Abstracts of the 41st Annual Meeting of the Society of Neuropediatrics

Abbasi, A.

Identification of Novel MCPH Genes: A Study of Consanguineous Families of Pakistani Descent

Abela, L.

A Novel Plasma Biomarker for Snyder Robinson Syndrome (X-Linked Spermine Synthase Deficiency)

Abicht, A.

Infantile Manifestation of a Mitochondriopathy due to a Homozygous Mutation in DARS2 Gene

Adler, C.

Hemispheric Dissociation between Ipsilateral Motor and Contralateral Somatosensory Representation of the Paretic Hand: Deterioration of Hand Function after Hemispherotomy in a Case of Hemispheric Polymicrogyria

Ahting, U.

Case Report: Patient with POLG Mutation with the Clinical Picture of a Myocerebrohepatopathy Syndrome

Aktas-Koptagel, M.

Spinal Hemorrhage: An Interdisciplinary Emergency

Albers, L.

Health-Related Quality of Life of Children with Vertigo: Retrospective Study at the German Center for Vertigo and Balance Disorders

Albrecht, U.

Headache and Focal Status Epilepticus as Initial Symptom of POLG Mutation

Althaus, J.

Predictive Value of Cerebrospinal Fluid Flow Cytometry in Pediatric Multiple Sclerosis

Ketogenic Diet in Childhood Pharmacoresistant Epilepsy

Alves-Pinto, A.

Cerebral Blood Circulation in Premature Infants by Means of Mathematical Modeling

André, M.

Acute Hemiparesis Revealing Neuroborreliosis in a 3-Year-Old Boy

Arroyo, M. Riaño

Muscle Contractures in Children with Spastic Cerebral Palsy

Assmann, B.

Diagnostic Pitfalls in Tuberculous Meningitis

Aznar Lain, G.

Neurogenic Thoracic Outlet Syndrome: A Rare Differential Diagnosis of upper Extremity Paresthesia in a Pediatric Patient

Bach, C.

German Version and Standardization of the Bayley Scales of Infant and Toddler Development, 3rd Edition: First Results on Clinical Validity and Criteria Validity of the Cognitive Scale and Language Scale

Bachmann, M.

Headache and Focal Status Epilepticus as Initial Symptom of POLG Mutation

Bachmann-Holzinger, I.

Feasibility and Usefulness of Rapid 2 Channel EEG Monitoring for Acute CNS Disorders in the Pediatric Emergency Ward

Baethmann, M.

Heterozygous Mutation in the KCNMA1 Gene with “Loss of Function” Phenotype in a Patient with Generalized Epilepsy

Bajer-Kornek, B.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Bak-Göcke, U.

Opsoclonus Myoclonus Syndrome: A Case Report

Ballabio, A.

LYSOPLEX: An Efficient Toolkit to Detect Sequence Variations in Genes Involved in the Lysosomal-Autophagic Pathway and Neurodegenerative Diseases

Bast, T.

Quinidine: A Targeted Drug Treatment for Patients with the Syndrome of Malignant Migrating Partial Seizures in Infancy and KCNT1 Mutation

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Modified Atkins Diet, an Alternative Treatment of Glucose Transporter Type 1 Deficiency Syndrome

Battke, F.

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy

Diagnostic Panels: A Powerful Tool to Identify the Underlying Genetic Cause in Neuromuscular Diseases

Baumann, M.

Headache and Focal Status Epilepticus as Initial Symptom of POLG Mutation

Baumgartner Sigl, S.

Headache and Focal Status Epilepticus as Initial Symptom of POLG Mutation

Beaud, N.

Unraveling the Genotype-Specific Response to Antiepileptic Medication in LIS1 Associated Classic Lissencephaly

Bechtel, N.

Attention Problems in Children with Epilepsy. How is the Long-Term Outcome?

ADEM-Like Presentation as the Main Manifestation of X-Linked Lymphoproliferative Disease in a 4-Year-Old Male Patient

Beck-Wödl, S.

GM2-Activator Deficiency Mimics Tay–Sachs Disease

Beer, S.

Inclusion and Augmentative and Alternative Communication as Most Important Participation Issue

AAC as an Approach toward Language Development

Behre, S.

Neurological Multicenter Clinical Research in Vulnerable Populations: Variability in Institutional Review Boards' Responses

Bendszus, M.

Neurological Multicenter Clinical Research in Vulnerable Populations: Variability in Institutional Review Boards' Responses

Bengesser, K.

Diagnostic Panels: A Powerful Tool to Identify the Underlying Genetic Cause in Neuromuscular Diseases

Berger, T.

ADEM-Like Presentation as the Main Manifestation of X-Linked Lymphoproliferative Disease in a 4-Year-Old Male Patient

Bergmann, C.

Ciliopathies with Hepatic Involvement the Broad Phenotypical Spectrum of TMEM67 Mutations

Berner, R.

Novel Mutation in the DCK1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome as a Rare Differential Diagnosis in Primary Microcephaly, Cerebellar Hypoplasia, and Severe Developmental Delay with Progressive Bone Marrow Failure

Berweck, S.

Retrospective Analysis of Tetrahydrocannabinol Based on 31 Neurologically Critically Ill Children

Hemispheric Dissociation between Ipsilateral Motor and Contralateral Somatosensory Representation of the Paretic Hand: Deterioration of Hand Function after Hemispherotomy in a Case of Hemispheric Polymicrogyria

Betzler, C.

Retrospective Analysis of Tetrahydrocannabinol Based on 31 Neurologically Critically Ill Children

Focal Cortical Dysplasia in a Family with KCNQ3 Mutation

Bieri, O.

Improved Muscle Function in Duchenne Muscular Dystrophy using a Combination of L-Arginine and Metformin

Bischof, C.

The Abusive Head Trauma: Case Report and Neurological Follow-Up

Biskup, S.

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy

Somatic PIK3CA Mosaic as a Cause of Hemimegalencephaly and Congenital Infiltrating Lipomatosis of the Face

Diagnostic Panels: A Powerful Tool to Identify the Underlying Genetic Cause in Neuromuscular Diseases

Heterozygous Mutation in the KCNMA1 Gene with “Loss of Function” Phenotype in a Patient with Generalized Epilepsy

Focal Cortical Dysplasia in a Family with KCNQ3 Mutation

Blankenburg, M.

MERS: Mild Encephalopathy/Encephalitis with Reversible Lesions in the Splenium Another Three Cases

Manganese Storage Disease as a Rare Cause of Dystonia with Bilateral Changes in Basal Ganglia and Polycythemia

Longitudinally Extensive Transverse Myelitis in Four Children

Blaschek, A.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Blassnig-Ezeh, A.

Spinal Cord Monitoring in Patients with SMA Type III: A Case Report

Bley, A.

Optic Atrophy in an Iron Storage Disorder Reducing Tissue Iron Load in a Child with MPAN Disease

Hypomyelination without Hypogonadotropic Hypogonadism and Hypodontia as a Variant of 4H Syndrome

Hematopoietic Stem Cell Transplantation for Late-Onset Krabbe Disease

Blumberg, J.

Fast fMRI Sequence Allows for Analysis of BOLD Responses to Single Interictal Epileptic Spikes

Blumenstein, T.

Cerebral Blood Circulation in Premature Infants by Means of Mathematical Modeling

Boelen, M.

A Comparison of Language Lateralization as Assessed using Functional MRI using Scanner-Generated versus Externally Calculated Statistical Parameter Maps

Böhm, R.

Stress And The Cortisol Diurnal Profile — Is Only “High” Critical?

Böhringer, J.

Intrafamilial Variability of Natural Disease Course in Metachromatic Leukodystrophy

GM2-Activator Deficiency Mimics Tay–Sachs Disease

Boltshauser, E.

Quality of Life 5 Years after Neonatal Arterial Ischemic Stroke: Is there an Association with Hand Motor Performance?

Corpus Callosum Anomalies in Joubert Syndrome: Low Prevalence and Weak Phenotype–Genotype Correlation

Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1

Oral-Facial-Digital Syndrome Type VI: is C5orf42 Really the Major Gene?

Cerebellar Cysts in Children: A Pattern-Recognition Approach

Brain Stem Disconnection: Two Additional Patients and Expansion of the Phenotype

Pontine Tegmental Cap Dysplasia in an Extremely Low Birth Weight Preterm Infant

Video-Documented Long-Term Follow-Up of a 10 Years' Old Girl with Severe Dyskinesia and Paroxysmal Choreoathetosis: A Variant Ataxia-Telangiectasia (A-T)

Bonati, U.

Improved Muscle Function in Duchenne Muscular Dystrophy using a Combination of L-Arginine and Metformin

Borck, G.

Pontocerebellar Hypoplasia Type 9: A New Subtype

Borell, S.

Immunomodulatory Treatment of a Patient with Cross-Reactive Immunologic Material Negative Infantile Pompe Disease and Hypertrophic Cardiomyopathy

Severe Neonatal Apnea Episodes Associated with a Nondystrophic Congenital Myotonia Caused by a Mutation in the Gene SCN4A

Borggräfe, I.

Unraveling the Genotype-Specific Response to Antiepileptic Medication in LIS1 Associated Classic Lissencephaly

Borusiak, P.

Never Trust a Normal MRI

EBV Encephalitis in Acute Infectious Mononucleosis

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Botkin, N.

Cerebral Blood Circulation in Premature Infants by Means of Mathematical Modeling

Bouikidis, A.

Growth and Endocrinological Evaluation in Autosomal Recessive Proximal Spinal Muscular Atrophies Type I–III

X-Linked Myotubular Myopathy Clinical Improvement by Use of Pyridostigmine in an Infant

Brackmann, F.

Leigh-Like Course of Progressive Encephalopathy Associated with ECHS1-Mutation— A Case Report

Rare Variant of GM2 Gangliosidosis due to Activator Protein Deficiency: A Case Report

Braulke, T.

LYSOPLEX: An Efficient Toolkit to Detect Sequence Variations in Genes Involved in the Lysosomal-Autophagic Pathway and Neurodegenerative Diseases

Brecht, I.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Brenner, S.

Novel Mutation in the DCK1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome as a Rare Differential Diagnosis in Primary Microcephaly, Cerebellar Hypoplasia, and Severe Developmental Delay with Progressive Bone Marrow Failure

Brockmann, K.

Novel Mutation in the Inverted Formin 2 Gene in a Family with Hereditary Motor and Sensory Neuropathy, and Nephropathy

Bromberg, J.

Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1

Brunner-Krainz, M.

Neuralgic Amyotrophy: A Rare Disease in Adolescence

Bubl, B.

Impact of Advanced MRI Imaging in Acute Stroke-Like Episodes

Budde, J.

Unraveling the Genotype-Specific Response to Antiepileptic Medication in LIS1 Associated Classic Lissencephaly

Buhk, J.

Brain Stem Disconnection: Two Additional Patients and Expansion of the Phenotype

Bürger, F.

Neurological Multicenter Clinical Research in Vulnerable Populations: Variability in Institutional Review Boards' Responses

Buschmann, A.

German Version and Standardization of the Bayley Scales of Infant and Toddler Development, 3rd Edition: First Results on Clinical Validity and Criteria Validity of the Cognitive Scale and Language Scale

Bussmann, C.

Genetically Misdiagnosed Duchenne: Confirmation of a Becker Muscle Dystrophy with Proof of an In-Frame Mutation with Deletion of Three Additional Exons on mRNA Level Based on Experimental cDNA Analysis

Buttmann, M.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Buyse, G.

Idebenone Reduces Loss of Respiratory Function in Duchenne Muscular Dystrophy: Outcome of a Phase III Double Blind, Randomized, Placebo-Controlled Trial

Cagnoli, S.

Never Trust a Normal MRI

EBV Encephalitis in Acute Infectious Mononucleosis

Capone Mori, A.

Quality of Life 5 Years after Neonatal Arterial Ischemic Stroke: Is there an Association with Hand Motor Performance?

Chen, W.

Pontine Tegmental Cap Dysplasia in an Extremely Low Birth Weight Preterm Infant

Identification of Novel MCPH Genes: A Study of Consanguineous Families of Pakistani Descent

Classen, G.

Case Report of a Patient with partial Trisomy 13q21.1qter

Clusmann, H.

Spinal Hemorrhage: An Interdisciplinary Emergency

Company, M.

Explorative Saccade Training for Children with Homonymous Hemianopia: Case Report and Presentation of a Planned Study

Coppola, A.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Courage, C.

Video-Documented Long-Term Follow-Up of a 10 Years' Old Girl with Severe Dyskinesia and Paroxysmal Choreoathetosis: A Variant Ataxia-Telangiectasia (A-T)

Cremer, M.

Immediate Effects of Phototherapy on Sleep of Very Preterm Neonates: An Observational Study

Cross, H.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Crowther, L.

A Novel Plasma Biomarker for Snyder Robinson Syndrome (X-Linked Spermine Synthase Deficiency)

Damm, M.

MERS: Mild Encephalopathy/Encephalitis with Reversible Lesions in the Splenium Another Three Cases

Daseking, M.

Cognitive Development in Children with Rolandic Epilepsy: Results of a Current PubMed Search

Datta, A.

Quality of Life 5 Years after Neonatal Arterial Ischemic Stroke: Is there an Association with Hand Motor Performance?

The Impact of Infectious Diseases on Sleeping Behavior in Preterm Infants

Impact of Advanced MRI Imaging in Acute Stroke-Like Episodes

Internetwork Connectivity Alterations in Children with Benign Epilepsy with Centrotemporal Spikes

Immediate Effects of Phototherapy on Sleep of Very Preterm Neonates: An Observational Study

Debus, O.

Unraveling the Genotype-Specific Response to Antiepileptic Medication in LIS1 Associated Classic Lissencephaly

Dehmel, M.

Novel Mutation in the DCK1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome as a Rare Differential Diagnosis in Primary Microcephaly, Cerebellar Hypoplasia, and Severe Developmental Delay with Progressive Bone Marrow Failure

Deißler, A.

Health-Related Quality of Life of Children with Vertigo: Retrospective Study at the German Center for Vertigo and Balance Disorders

Dekomien, G.

Rare Variant of GM2 Gangliosidosis due to Activator Protein Deficiency: A Case Report

Delgado, J.

Longitudinal Functional Reorganization after Pediatric Stroke: A Descriptive Case Study

Delgado, J. Rodríguez

Muscle Contractures in Children with Spastic Cerebral Palsy

Della Marina, A.

Growth and Endocrinological Evaluation in Autosomal Recessive Proximal Spinal Muscular Atrophies Type I–III

X-Linked Myotubular Myopathy Clinical Improvement by Use of Pyridostigmine in an Infant

Denecke, J.

ASAH1 Mutation in a Boy with Non-5q SMA and Progressive Myoclonic Epilepsy

Brain Stem Disconnection: Two Additional Patients and Expansion of the Phenotype

Hematopoietic Stem Cell Transplantation for Late-Onset Krabbe Disease

Deuster, S.

Improved Muscle Function in Duchenne Muscular Dystrophy using a Combination of L-Arginine and Metformin

Deutz, U.

Spinal Hemorrhage: An Interdisciplinary Emergency

DiDonato, N.

Novel Mutation in the DCK1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome as a Rare Differential Diagnosis in Primary Microcephaly, Cerebellar Hypoplasia, and Severe Developmental Delay with Progressive Bone Marrow Failure

Diessel, J.

Sulcal Artery Syndrome in a 10-Year-Old Boy

Dietel, T.

Quinidine: A Targeted Drug Treatment for Patients with the Syndrome of Malignant Migrating Partial Seizures in Infancy and KCNT1 Mutation

Di Fruscio, G.

LYSOPLEX: An Efficient Toolkit to Detect Sequence Variations in Genes Involved in the Lysosomal-Autophagic Pathway and Neurodegenerative Diseases

Dikow, N.

Postnatal Microcephaly, Dyskinesia, and Agenesis of the Corpus Callosum as Indication of FOXG1-Related Disorders: A Case Report

Dimova, P.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Dittrich, S.

Connatal Nutritional Deficiency of Vitamin B12 in a Newborn with Early Neurologic Symptoms

Döcker, M.

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy

Doherty, D.

Brain Stem Disconnection: Two Additional Patients and Expansion of the Phenotype

Döring, C.

Manganese Storage Disease as a Rare Cause of Dystonia with Bilateral Changes in Basal Ganglia and Polycythemia

Dotzler, E.

Retrospective Analysis of Tetrahydrocannabinol Based on 31 Neurologically Critically Ill Children

Dougherty, G.

Subcellular Analysis of the Motor Protein Apparatus in Ependymal Cilia

Dreher, T.

The Objective Measurement of Diadochokinesis in Children with Bilateral Spastic Cerebral Palsy

Dutzmann, C.

Sulcal Artery Syndrome in a 10-Year-Old Boy

Eckenweiler, M.

Severe Neonatal Apnea Episodes Associated with a Nondystrophic Congenital Myotonia Caused by a Mutation in the Gene SCN4A

Ehl, S.

Immunomodulatory Treatment of a Patient with Cross-Reactive Immunologic Material Negative Infantile Pompe Disease and Hypertrophic Cardiomyopathy

Eitel, H.

Focal Cortical Dysplasia in a Family with KCNQ3 Mutation

Elfring, G.

Design of a Confirmatory Phase 3, Multicenter, Randomized, Double Blind, Placebo-Controlled Study (ACT DMD) of Ataluren in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

Elpers, C.

Predictive Value of Cerebrospinal Fluid Flow Cytometry in Pediatric Multiple Sclerosis

Ketogenic Diet in Childhood Pharmacoresistant Epilepsy

Erlewein, R.

Offering Interdisciplinary Evaluation and Crisis Intervention in View of Neuropediatric, Psychiatric, and Special Needs Aspects for Mentally Disabled Children showing Behavioral Problems as their Cardinal Symptom

Erne, B.

Improved Muscle Function in Duchenne Muscular Dystrophy using a Combination of L-Arginine and Metformin

Everts, R.

Longitudinal Functional Reorganization after Pediatric Stroke: A Descriptive Case Study

Fehr, S.

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy

Fellinger, J.

The Developmental Coordination Disorder Questionnaire—German Version—in a Pediatric Outpatient Clinic for Communication Disorders

Ferrarini, A.

High Prevalence of Pathologic Copy Number Variations Detected by Array Comparative Genomic Hybridization in Children with Autism Spectrum Disorders: The Experience of Southern Switzerland

Fiedler, B.

Predictive Value of Cerebrospinal Fluid Flow Cytometry in Pediatric Multiple Sclerosis

Ketogenic Diet in Childhood Pharmacoresistant Epilepsy

Fischalek, A.

ADEM-Like Presentation as the Main Manifestation of X-Linked Lymphoproliferative Disease in a 4-Year-Old Male Patient

Fischer, D.

Improved Muscle Function in Duchenne Muscular Dystrophy using a Combination of L-Arginine and Metformin

Fischmann, A.

Improved Muscle Function in Duchenne Muscular Dystrophy using a Combination of L-Arginine and Metformin

Fleck, T.

Immunomodulatory Treatment of a Patient with Cross-Reactive Immunologic Material Negative Infantile Pompe Disease and Hypertrophic Cardiomyopathy

Flümann, S.

Life-Threatening Complication of Spastic Cerebral Palsy: Atlantoaxial Instability

Fluss, J.

Quality of Life 5 Years after Neonatal Arterial Ischemic Stroke: Is there an Association with Hand Motor Performance?

Corpus Callosum Anomalies in Joubert Syndrome: Low Prevalence and Weak Phenotype–Genotype Correlation

Fogarasi, A.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Förster, K.

Association between Analgosedation of Premature Infants Using Fentanyl with Neurodevelopmental Outcome at the Corrected Age of 24 Months

Franck, P.

Immunomodulatory Treatment of a Patient with Cross-Reactive Immunologic Material Negative Infantile Pompe Disease and Hypertrophic Cardiomyopathy

Frank, S.

Improved Muscle Function in Duchenne Muscular Dystrophy using a Combination of L-Arginine and Metformin

Freisinger, P.

Case Report: Patient with POLG Mutation with the Clinical Picture of a Myocerebrohepatopathy Syndrome

Freudenberg, L.

Concepts of Pediatric Palliative Care in Medical Complex Children with Neurodegenerative Disease: Concurrent Care is an Option

Fritsch, J.

Transcranial Biphasic Quadro-Pulse Stimulation with One but not Two Full-Sine Cycles Induces Long-Term Depression-Like Changes in Corticomotor Excitability

Fröhler, S.

Pontine Tegmental Cap Dysplasia in an Extremely Low Birth Weight Preterm Infant

Identification of Novel MCPH Genes: A Study of Consanguineous Families of Pakistani Descent

Fuchs, H.

Immunomodulatory Treatment of a Patient with Cross-Reactive Immunologic Material Negative Infantile Pompe Disease and Hypertrophic Cardiomyopathy

Gärtner, J.

Bone Marrow Transplantation in a Mouse Model for Rett Syndrome

Gattinger, N.

Transcranial Biphasic Quadro-Pulse Stimulation with One but not Two Full-Sine Cycles Induces Long-Term Depression-Like Changes in Corticomotor Excitability

Gburek-Augustat, J.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Geis, T.

Genotype and Phenotype in 34 Families with Genetically Confirmed Walker-Warburg Syndrome or Muscle Eye Brain Disease

Unraveling the Genotype-Specific Response to Antiepileptic Medication in LIS1 Associated Classic Lissencephaly

Gleich, B.

Transcranial Biphasic Quadro-Pulse Stimulation with One but not Two Full-Sine Cycles Induces Long-Term Depression-Like Changes in Corticomotor Excitability

Gleixner, E.

Diagnostic Panels: A Powerful Tool to Identify the Underlying Genetic Cause in Neuromuscular Diseases

Glöckle, N.

Diagnostic Panels: A Powerful Tool to Identify the Underlying Genetic Cause in Neuromuscular Diseases

Gloor, M.

Improved Muscle Function in Duchenne Muscular Dystrophy using a Combination of L-Arginine and Metformin

Göpel, W.

Very Low Birth Weight Infants in Germany: How many Therapies Do They Get until Preschool Age?

Graness, I.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Grange, D.

Brain Stem Disconnection: Two Additional Patients and Expansion of the Phenotype

Granström, S.

Executive Dysfunction in Neurofibromatosis Type 1: Comparison to Idiopathic ADHD

Grau, T.

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy

Diagnostic Panels: A Powerful Tool to Identify the Underlying Genetic Cause in Neuromuscular Diseases

Greulich, N.

Becker Muscular Dystrophy in a 2-Year-Old Boy caused by a Novel Missense Mutation p.Arg145Pro in the Dystrophin Gene

Gröschel, S.

Intrafamilial Variability of Natural Disease Course in Metachromatic Leukodystrophy

Groß, C.

Predictive Value of Cerebrospinal Fluid Flow Cytometry in Pediatric Multiple Sclerosis

Groß, M.

Cerebral Palsy and Breathing: More than Prophylaxis of Pneumonia

Grosse, R.

Optic Atrophy in an Iron Storage Disorder Reducing Tissue Iron Load in a Child with MPAN Disease

Große-Opphoff, J.

Never Trust a Normal MRI

Grosser, K.

Olfactory Function in Head Trauma Patients a Link to Frontal Brain Damage?

Gruber-Sedlmayr, U.

Neuralgic Amyotrophy: A Rare Disease in Adolescence

Grunt, S.

Pontocerebellar Hypoplasia Type 9: A New Subtype

Quality of Life 5 Years after Neonatal Arterial Ischemic Stroke: Is there an Association with Hand Motor Performance?

Longitudinal Functional Reorganization after Pediatric Stroke: A Descriptive Case Study

Muscle Contractures in Children with Spastic Cerebral Palsy

LPIN1 Mutations are an Important Cause of Rhabdomyolysis

Guerrini, R.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Gusek-Schneider, G.

Rare Variant of GM2 Gangliosidosis due to Activator Protein Deficiency: A Case Report

Guzman, R.

Arrested Hydrocephalus in Children: Report of Five Consecutive Cases and Comprehensive Review of the Literature

Haak, T.

Leigh-Like Course of Progressive Encephalopathy Associated with ECHS1-Mutation— A Case Report

Haas-Lude, K.

Clinical and Imaging Findings and Postoperative Esthetic Results in Patients with Single or Bilateral Coronal Synostosis

Haberlandt, E.

Headache and Focal Status Epilepticus as Initial Symptom of POLG Mutation

Hachmann, W.

Life-Threatening Complication of Spastic Cerebral Palsy: Atlantoaxial Instability

Hafner, P.

Improved Muscle Function in Duchenne Muscular Dystrophy using a Combination of L-Arginine and Metformin

Hahn, A.

Somatic PIK3CA Mosaic as a Cause of Hemimegalencephaly and Congenital Infiltrating Lipomatosis of the Face

Unraveling the Genotype-Specific Response to Antiepileptic Medication in LIS1 Associated Classic Lissencephaly

Sulcal Artery Syndrome in a 10-Year-Old Boy

Hahn, G.

Novel Mutation in the DCK1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome as a Rare Differential Diagnosis in Primary Microcephaly, Cerebellar Hypoplasia, and Severe Developmental Delay with Progressive Bone Marrow Failure

Hamelmann, E.

Case Report of a Patient with partial Trisomy 13q21.1qter

Hartenstein, S.

Pontine Tegmental Cap Dysplasia in an Extremely Low Birth Weight Preterm Infant

Hartig, M.

Optic Atrophy in an Iron Storage Disorder Reducing Tissue Iron Load in a Child with MPAN Disease

Hasselmann, O.

Crosstalk between Doctors, Ethicists, and Economist for the Good of Neuropediatrics

Hauffa, B.

Growth and Endocrinological Evaluation in Autosomal Recessive Proximal Spinal Muscular Atrophies Type I–III

Haug, V.

Connatal Nutritional Deficiency of Vitamin B12 in a Newborn with Early Neurologic Symptoms

Häusler, M.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Spinal Hemorrhage: An Interdisciplinary Emergency

Häußler, M.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Unraveling the Genotype-Specific Response to Antiepileptic Medication in LIS1 Associated Classic Lissencephaly

Hehr, U.

Mutation Spectrum and Infantile Manifestation in Hereditary Spastic Paraplegia

Genotype and Phenotype in 34 Families with Genetically Confirmed Walker-Warburg Syndrome or Muscle Eye Brain Disease

Unraveling the Genotype-Specific Response to Antiepileptic Medication in LIS1 Associated Classic Lissencephaly

Heimgärtner, M.

Executive Dysfunction in Neurofibromatosis Type 1: Comparison to Idiopathic ADHD

Heinemeyer, J.

ASAH1 Mutation in a Boy with Non-5q SMA and Progressive Myoclonic Epilepsy

Heinen, F.

Clinical Neurophysiology in Dizzy Children: Which Tests do I Need?

Health-Related Quality of Life of Children with Vertigo: Retrospective Study at the German Center for Vertigo and Balance Disorders

Heininger, U.

Acute Hemiparesis Revealing Neuroborreliosis in a 3-Year-Old Boy

Hellenbroich, Y.

Case Report: Patient with POLG Mutation with the Clinical Picture of a Myocerebrohepatopathy Syndrome

Heller, C.

Diagnostic Panels: A Powerful Tool to Identify the Underlying Genetic Cause in Neuromuscular Diseases

Helmke, F.

Rolandic Epilepsy: Retrospective Analysis of Neuropsychological and Clinical Data

Cognitive Development in Children with Rolandic Epilepsy: Results of a Current PubMed Search

Hennig, J.

Fast fMRI Sequence Allows for Analysis of BOLD Responses to Single Interictal Epileptic Spikes

Herberhold, T.

Retrospective Analysis of Tetrahydrocannabinol Based on 31 Neurologically Critically Ill Children

Focal Cortical Dysplasia in a Family with KCNQ3 Mutation

Herbst, S.

Unraveling the Genotype-Specific Response to Antiepileptic Medication in LIS1 Associated Classic Lissencephaly

Herkenrath, P.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Hernandez Castellano, M.

Neurogenic Thoracic Outlet Syndrome: A Rare Differential Diagnosis of upper Extremity Paresthesia in a Pediatric Patient

Herting, E.

Very Low Birth Weight Infants in Germany: How many Therapies Do They Get until Preschool Age?

Heußinger, N.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Becker Muscular Dystrophy in a 2-Year-Old Boy caused by a Novel Missense Mutation p.Arg145Pro in the Dystrophin Gene

Heyer, C.

Infantile Manifestation of a Mitochondriopathy due to a Homozygous Mutation in DARS2 Gene

Hilgendorff, A.

Association between Analgosedation of Premature Infants Using Fentanyl with Neurodevelopmental Outcome at the Corrected Age of 24 Months

Hilker, C.

Improved Muscle Function in Duchenne Muscular Dystrophy using a Combination of L-Arginine and Metformin

Hinderhofer, K.

Neurological Multicenter Clinical Research in Vulnerable Populations: Variability in Institutional Review Boards' Responses

Genetically Misdiagnosed Duchenne: Confirmation of a Becker Muscle Dystrophy with Proof of an In-Frame Mutation with Deletion of Three Additional Exons on mRNA Level Based on Experimental cDNA Analysis

Hjalgrim, H.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Hoffjan, S.

Infantile Manifestation of a Mitochondriopathy due to a Homozygous Mutation in DARS2 Gene

Hoffmann, G.

Diagnostic Pitfalls in Tuberculous Meningitis

Juvenile Scleroderma with Isolated CNS Manifestations: Difficulties in Diagnosis and Possible Treatment Plans

Neurological Multicenter Clinical Research in Vulnerable Populations: Variability in Institutional Review Boards' Responses

Bohring-Opitz Syndrome: Mutation in the ASXL1 Gene as a Rare Cause of Mental Retardation with Failure to Thrive and Characteristic Phenotype

Genetically Misdiagnosed Duchenne: Confirmation of a Becker Muscle Dystrophy with Proof of an In-Frame Mutation with Deletion of Three Additional Exons on mRNA Level Based on Experimental cDNA Analysis

Hoffmann, J.

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy

Somatic PIK3CA Mosaic as a Cause of Hemimegalencephaly and Congenital Infiltrating Lipomatosis of the Face

Hofmann, R.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Hofstetter, P.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Hörtnagel, K.

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy

Diagnostic Panels: A Powerful Tool to Identify the Underlying Genetic Cause in Neuromuscular Diseases

Focal Cortical Dysplasia in a Family with KCNQ3 Mutation

Video-Documented Long-Term Follow-Up of a 10 Years' Old Girl with Severe Dyskinesia and Paroxysmal Choreoathetosis: A Variant Ataxia-Telangiectasia (A-T)

Hubacher, M.

Internetwork Connectivity Alterations in Children with Benign Epilepsy with Centrotemporal Spikes

Huisman, T.

Corpus Callosum Anomalies in Joubert Syndrome: Low Prevalence and Weak Phenotype–Genotype Correlation

Cerebellar Cysts in Children: A Pattern-Recognition Approach

Hummel, T.

The Depth of the Olfactory Sulcus in Normosmic Children and Adolescents

Olfactory Function in Head Trauma Patients a Link to Frontal Brain Damage?

Huppke, P.

Bone Marrow Transplantation in a Mouse Model for Rett Syndrome

Hurni, Y.

Arrested Hydrocephalus in Children: Report of Five Consecutive Cases and Comprehensive Review of the Literature

Husain, M.

Design of a Confirmatory Phase 3, Multicenter, Randomized, Double Blind, Placebo-Controlled Study (ACT DMD) of Ataluren in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

Idris, N.

Never Trust a Normal MRI

EBV Encephalitis in Acute Infectious Mononucleosis

Illing, G.

Modified Atkins Diet, an Alternative Treatment of Glucose Transporter Type 1 Deficiency Syndrome

Imahorn, P.

Feasibility and Usefulness of Rapid 2 Channel EEG Monitoring for Acute CNS Disorders in the Pediatric Emergency Ward

Ivanov, I.

Explorative Saccade Training for Children with Homonymous Hemianopia: Case Report and Presentation of a Planned Study

Jacobs, J.

Fast fMRI Sequence Allows for Analysis of BOLD Responses to Single Interictal Epileptic Spikes

Jahn, K.

Clinical Neurophysiology in Dizzy Children: Which Tests do I Need?

Health-Related Quality of Life of Children with Vertigo: Retrospective Study at the German Center for Vertigo and Balance Disorders

Jelesch, E.

Focal Cortical Dysplasia in a Family with KCNQ3 Mutation

Jenke, A.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

EBV Encephalitis in Acute Infectious Mononucleosis

Johannsen, J.

ASAH1 Mutation in a Boy with Non-5q SMA and Progressive Myoclonic Epilepsy

Jost, K.

The Impact of Infectious Diseases on Sleeping Behavior in Preterm Infants

Immediate Effects of Phototherapy on Sleep of Very Preterm Neonates: An Observational Study

Jünemann, S.

Old Drug, New Mutation in Neonatal Epileptic Encephalopathies

Jung, N.

Transcranial Biphasic Quadro-Pulse Stimulation with One but not Two Full-Sine Cycles Induces Long-Term Depression-Like Changes in Corticomotor Excitability

Junghanss, T.

Diagnostic Pitfalls in Tuberculous Meningitis

Jüngling, J.

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy

Kaindl, A.

Pontine Tegmental Cap Dysplasia in an Extremely Low Birth Weight Preterm Infant

Identification of Novel MCPH Genes: A Study of Consanguineous Families of Pakistani Descent

Kaiser, O.

X-Linked Myotubular Myopathy Clinical Improvement by Use of Pyridostigmine in an Infant

Kalache, K.

Pontine Tegmental Cap Dysplasia in an Extremely Low Birth Weight Preterm Infant

Kalb, A.

Transcranial Biphasic Quadro-Pulse Stimulation with One but not Two Full-Sine Cycles Induces Long-Term Depression-Like Changes in Corticomotor Excitability

Karall, D.

Headache and Focal Status Epilepticus as Initial Symptom of POLG Mutation

Karch, S.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Postnatal Microcephaly, Dyskinesia, and Agenesis of the Corpus Callosum as Indication of FOXG1-Related Disorders: A Case Report

Kästner, B.

Neurological Multicenter Clinical Research in Vulnerable Populations: Variability in Institutional Review Boards' Responses

Kehrer, C.

Intrafamilial Variability of Natural Disease Course in Metachromatic Leukodystrophy

GM2-Activator Deficiency Mimics Tay–Sachs Disease

Keimer, R.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Keller, E.

Quality of Life 5 Years after Neonatal Arterial Ischemic Stroke: Is there an Association with Hand Motor Performance?

Kiefer, C.

Longitudinal Functional Reorganization after Pediatric Stroke: A Descriptive Case Study

Kilian, D.

The DEM-CHILD Neuronal Ceroid Lipofuscinoses Patient Database: A Tool for the Evaluation of Therapies in Neuronal Ceroid Lipofuscinoses

Kirschner, J.

Immunomodulatory Treatment of a Patient with Cross-Reactive Immunologic Material Negative Infantile Pompe Disease and Hypertrophic Cardiomyopathy

Severe Neonatal Apnea Episodes Associated with a Nondystrophic Congenital Myotonia Caused by a Mutation in the Gene SCN4A

Klein, A.

Cerebellar Cysts in Children: A Pattern-Recognition Approach

Klein, C.

Manganese Storage Disease as a Rare Cause of Dystonia with Bilateral Changes in Basal Ganglia and Polycythemia

Klepper, J.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Becker Muscular Dystrophy in a 2-Year-Old Boy caused by a Novel Missense Mutation p.Arg145Pro in the Dystrophin Gene

Klotz, M.

The Objective Measurement of Diadochokinesis in Children with Bilateral Spastic Cerebral Palsy

Kluger, G.

Retrospective Analysis of Tetrahydrocannabinol Based on 31 Neurologically Critically Ill Children

Quinidine: A Targeted Drug Treatment for Patients with the Syndrome of Malignant Migrating Partial Seizures in Infancy and KCNT1 Mutation

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Focal Cortical Dysplasia in a Family with KCNQ3 Mutation

Koch, J.

Corpus Callosum Anomalies in Joubert Syndrome: Low Prevalence and Weak Phenotype–Genotype Correlation

Koch, K.

Zoster Neuropathy: Rare Diagnosis in Atypical Facial Pain not Responding to Treatment

Koch, M.

ADEM-Like Presentation as the Main Manifestation of X-Linked Lymphoproliferative Disease in a 4-Year-Old Male Patient

Koehler, K.

Case Report of a Patient with partial Trisomy 13q21.1qter

Kohl, Z.

Mutation Spectrum and Infantile Manifestation in Hereditary Spastic Paraplegia

Köhler, C.

Infantile Manifestation of a Mitochondriopathy due to a Homozygous Mutation in DARS2 Gene

Rolandic Epilepsy: Retrospective Analysis of Neuropsychological and Clinical Data

Therapeutic Options in Treatment of Juvenile Huntington Disease: Difference to Adult Patients

Kohlschütter, A.

The DEM-CHILD Neuronal Ceroid Lipofuscinoses Patient Database: A Tool for the Evaluation of Therapies in Neuronal Ceroid Lipofuscinoses

Optic Atrophy in an Iron Storage Disorder Reducing Tissue Iron Load in a Child with MPAN Disease

Infantile Manifestation of a Mitochondriopathy due to a Homozygous Mutation in DARS2 Gene

Hypomyelination without Hypogonadotropic Hypogonadism and Hypodontia as a Variant of 4H Syndrome

Hematopoietic Stem Cell Transplantation for Late-Onset Krabbe Disease

Late Talkers in Late Infantile CLN2 Disease: Red Flag for an Early Diagnosis

Kölfen, W.

Life-Threatening Complication of Spastic Cerebral Palsy: Atlantoaxial Instability

König, J.

Nephronophthisis Registry

Ciliopathies with Hepatic Involvement the Broad Phenotypical Spectrum of TMEM67 Mutations

Kontopantelis, E.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Konzett, K.

Spinal Cord Monitoring in Patients with SMA Type III: A Case Report

Körbl, K.

Fast fMRI Sequence Allows for Analysis of BOLD Responses to Single Interictal Epileptic Spikes

Korinthenberg, R.

Immunomodulatory Treatment of a Patient with Cross-Reactive Immunologic Material Negative Infantile Pompe Disease and Hypertrophic Cardiomyopathy

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Severe Neonatal Apnea Episodes Associated with a Nondystrophic Congenital Myotonia Caused by a Mutation in the Gene SCN4A

Becker Muscular Dystrophy in a 2-Year-Old Boy caused by a Novel Missense Mutation p.Arg145Pro in the Dystrophin Gene

Kornfeld, S.

Longitudinal Functional Reorganization after Pediatric Stroke: A Descriptive Case Study

Krägeloh-Mann, I.

Intrafamilial Variability of Natural Disease Course in Metachromatic Leukodystrophy

Clinical and Imaging Findings and Postoperative Esthetic Results in Patients with Single or Bilateral Coronal Synostosis

GM2-Activator Deficiency Mimics Tay–Sachs Disease

Rare Variant of GM2 Gangliosidosis due to Activator Protein Deficiency: A Case Report

Krämer, N.

Pontine Tegmental Cap Dysplasia in an Extremely Low Birth Weight Preterm Infant

Identification of Novel MCPH Genes: A Study of Consanguineous Families of Pakistani Descent

Krautwurst, B.

The Objective Measurement of Diadochokinesis in Children with Bilateral Spastic Cerebral Palsy

Krimmel, M.

Clinical and Imaging Findings and Postoperative Esthetic Results in Patients with Single or Bilateral Coronal Synostosis

Krumm, A.

Explorative Saccade Training for Children with Homonymous Hemianopia: Case Report and Presentation of a Planned Study

Kubicki, R.

Severe Neonatal Apnea Episodes Associated with a Nondystrophic Congenital Myotonia Caused by a Mutation in the Gene SCN4A

Kudernatsch, M.

Hemispheric Dissociation between Ipsilateral Motor and Contralateral Somatosensory Representation of the Paretic Hand: Deterioration of Hand Function after Hemispherotomy in a Case of Hemispheric Polymicrogyria

Künzle, C.

Developmental Profile of 3-Year-Old Girl with Atypical Rett Syndrome with Detection of a Currently Unpublished Mutation in the MECP2 Gen

Video-Documented Long-Term Follow-Up of a 10 Years' Old Girl with Severe Dyskinesia and Paroxysmal Choreoathetosis: A Variant Ataxia-Telangiectasia (A-T)

Küpper, H.

Hemispheric Dissociation between Ipsilateral Motor and Contralateral Somatosensory Representation of the Paretic Hand: Deterioration of Hand Function after Hemispherotomy in a Case of Hemispheric Polymicrogyria

Kurlemann, G.

Ciliopathies with Hepatic Involvement the Broad Phenotypical Spectrum of TMEM67 Mutations

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Predictive Value of Cerebrospinal Fluid Flow Cytometry in Pediatric Multiple Sclerosis

Unraveling the Genotype-Specific Response to Antiepileptic Medication in LIS1 Associated Classic Lissencephaly

Küster, A.

Explorative Saccade Training for Children with Homonymous Hemianopia: Case Report and Presentation of a Planned Study

Kustermann, W.

Rare Variant of GM2 Gangliosidosis due to Activator Protein Deficiency: A Case Report

Laine, M.

The DEM-CHILD Neuronal Ceroid Lipofuscinoses Patient Database: A Tool for the Evaluation of Therapies in Neuronal Ceroid Lipofuscinoses

Lampe, R.

Cerebral Blood Circulation in Premature Infants by Means of Mathematical Modeling

Lang-Dullenkopf, A.

Developmental Profile of 3-Year-Old Girl with Atypical Rett Syndrome with Detection of a Currently Unpublished Mutation in the MECP2 Gen

Langhagen, T.

Clinical Neurophysiology in Dizzy Children: Which Tests do I Need?

Health-Related Quality of Life of Children with Vertigo: Retrospective Study at the German Center for Vertigo and Balance Disorders

Lassay, L.

Spinal Hemorrhage: An Interdisciplinary Emergency

Lava, S.

High Prevalence of Pathologic Copy Number Variations Detected by Array Comparative Genomic Hybridization in Children with Autism Spectrum Disorders: The Experience of Southern Switzerland

Ledergerber, K.

The Impact of Infectious Diseases on Sleeping Behavior in Preterm Infants

Leis, T.

Rare Variant of GM2 Gangliosidosis due to Activator Protein Deficiency: A Case Report

Leitz, S.

Quinidine: A Targeted Drug Treatment for Patients with the Syndrome of Malignant Migrating Partial Seizures in Infancy and KCNT1 Mutation

Leiz, S.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Heterozygous Mutation in the KCNMA1 Gene with “Loss of Function” Phenotype in a Patient with Generalized Epilepsy

Lemberg, K.

ADEM-Like Presentation as the Main Manifestation of X-Linked Lymphoproliferative Disease in a 4-Year-Old Male Patient

Lemke, J.

Pontocerebellar Hypoplasia Type 9: A New Subtype

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy

Video-Documented Long-Term Follow-Up of a 10 Years' Old Girl with Severe Dyskinesia and Paroxysmal Choreoathetosis: A Variant Ataxia-Telangiectasia (A-T)

Lerche, H.

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy

LeVan, P.

Fast fMRI Sequence Allows for Analysis of BOLD Responses to Single Interictal Epileptic Spikes

Lidzba, K.

Executive Dysfunction in Neurofibromatosis Type 1: Comparison to Idiopathic ADHD

A Comparison of Language Lateralization as Assessed using Functional MRI using Scanner-Generated versus Externally Calculated Statistical Parameter Maps

Limburg, K.

Transcranial Biphasic Quadro-Pulse Stimulation with One but not Two Full-Sine Cycles Induces Long-Term Depression-Like Changes in Corticomotor Excitability

Linder-Lucht, M.

Neurogenic Thoracic Outlet Syndrome: A Rare Differential Diagnosis of upper Extremity Paresthesia in a Pediatric Patient

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Löbel, U.

Optic Atrophy in an Iron Storage Disorder Reducing Tissue Iron Load in a Child with MPAN Disease

Hypomyelination without Hypogonadotropic Hypogonadism and Hypodontia as a Variant of 4H Syndrome

Hematopoietic Stem Cell Transplantation for Late-Onset Krabbe Disease

Loddenkemper, T.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Loges, N.

Subcellular Analysis of the Motor Protein Apparatus in Ependymal Cilia

Lotte, J.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Lücke, T.

Infantile Manifestation of a Mitochondriopathy due to a Homozygous Mutation in DARS2 Gene

Rolandic Epilepsy: Retrospective Analysis of Neuropsychological and Clinical Data

Cognitive Development in Children with Rolandic Epilepsy: Results of a Current PubMed Search

Therapeutic Options in Treatment of Juvenile Huntington Disease: Difference to Adult Patients

Luntz, S.

Neurological Multicenter Clinical Research in Vulnerable Populations: Variability in Institutional Review Boards' Responses

Lustenberger, A.

Pontocerebellar Hypoplasia Type 9: A New Subtype

Lütschg, J.

Spinal Cord Monitoring in Patients with SMA Type III: A Case Report

Lutz, N.

Neurological Multicenter Clinical Research in Vulnerable Populations: Variability in Institutional Review Boards' Responses

Lutz, S.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Growth and Endocrinological Evaluation in Autosomal Recessive Proximal Spinal Muscular Atrophies Type I–III

X-Linked Myotubular Myopathy Clinical Improvement by Use of Pyridostigmine in an Infant

Mackenroth, L.

Novel Mutation in the DCK1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome as a Rare Differential Diagnosis in Primary Microcephaly, Cerebellar Hypoplasia, and Severe Developmental Delay with Progressive Bone Marrow Failure

Maier, M.

The Objective Measurement of Diadochokinesis in Children with Bilateral Spastic Cerebral Palsy

Maier, O.

Developmental Profile of 3-Year-Old Girl with Atypical Rett Syndrome with Detection of a Currently Unpublished Mutation in the MECP2 Gen

Quality of Life 5 Years after Neonatal Arterial Ischemic Stroke: Is there an Association with Hand Motor Performance?

Video-Documented Long-Term Follow-Up of a 10 Years' Old Girl with Severe Dyskinesia and Paroxysmal Choreoathetosis: A Variant Ataxia-Telangiectasia (A-T)

Makowski, C.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Mall, V.

Transcranial Biphasic Quadro-Pulse Stimulation with One but not Two Full-Sine Cycles Induces Long-Term Depression-Like Changes in Corticomotor Excitability

Mancini, F.

Corpus Callosum Anomalies in Joubert Syndrome: Low Prevalence and Weak Phenotype–Genotype Correlation

Oral-Facial-Digital Syndrome Type VI: is C5orf42 Really the Major Gene?

Marquard, K.

Manganese Storage Disease as a Rare Cause of Dystonia with Bilateral Changes in Basal Ganglia and Polycythemia

Longitudinally Extensive Transverse Myelitis in Four Children

Marsch, B.

ADEM-Like Presentation as the Main Manifestation of X-Linked Lymphoproliferative Disease in a 4-Year-Old Male Patient

Matheisl, D.

Connatal Nutritional Deficiency of Vitamin B12 in a Newborn with Early Neurologic Symptoms

Mattner, S.

The Objective Measurement of Diadochokinesis in Children with Bilateral Spastic Cerebral Palsy

Mautner, V.

Executive Dysfunction in Neurofibromatosis Type 1: Comparison to Idiopathic ADHD

Mayer, K.

Somatic PIK3CA Mosaic as a Cause of Hemimegalencephaly and Congenital Infiltrating Lipomatosis of the Face

Mechtl, R.

Inclusion and Augmentative and Alternative Communication as Most Important Participation Issue

Meier, S.

Feasibility and Usefulness of Rapid 2 Channel EEG Monitoring for Acute CNS Disorders in the Pediatric Emergency Ward

Meier, T.

Idebenone Reduces Loss of Respiratory Function in Duchenne Muscular Dystrophy: Outcome of a Phase III Double Blind, Randomized, Placebo-Controlled Trial

Meisner, T.

Opsoclonus Myoclonus Syndrome: A Case Report

Mercati, D.

Quality of Life 5 Years after Neonatal Arterial Ischemic Stroke: Is there an Association with Hand Motor Performance?

Merkenschlager, A.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Merschhemke, P.

Stress And The Cortisol Diurnal Profile — Is Only “High” Critical?

Meuth, S.

Predictive Value of Cerebrospinal Fluid Flow Cytometry in Pediatric Multiple Sclerosis

Meyer, S.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Micalizzi, A.

Corpus Callosum Anomalies in Joubert Syndrome: Low Prevalence and Weak Phenotype–Genotype Correlation

Oral-Facial-Digital Syndrome Type VI: is C5orf42 Really the Major Gene?

Miccinilli, E.

Oral-Facial-Digital Syndrome Type VI: is C5orf42 Really the Major Gene?

Michl, E.

Inclusion and Augmentative and Alternative Communication as Most Important Participation Issue

Miller, D.

Brain Stem Disconnection: Two Additional Patients and Expansion of the Phenotype

Mohr, J.

Diagnostic Panels: A Powerful Tool to Identify the Underlying Genetic Cause in Neuromuscular Diseases

Morris-Rosendahl, D.

Pontine Tegmental Cap Dysplasia in an Extremely Low Birth Weight Preterm Infant

Muchart Lopez, J.

Neurogenic Thoracic Outlet Syndrome: A Rare Differential Diagnosis of upper Extremity Paresthesia in a Pediatric Patient

Mühe, C.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Mull, M.

Spinal Hemorrhage: An Interdisciplinary Emergency

Müller, A.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Müller, C.

Becker Muscular Dystrophy in a 2-Year-Old Boy caused by a Novel Missense Mutation p.Arg145Pro in the Dystrophin Gene

Münter, S.

Case Report of a Patient with partial Trisomy 13q21.1qter

Mur Sierra, A.

Neurogenic Thoracic Outlet Syndrome: A Rare Differential Diagnosis of upper Extremity Paresthesia in a Pediatric Patient

Nägele, T.

Clinical and Imaging Findings and Postoperative Esthetic Results in Patients with Single or Bilateral Coronal Synostosis

Neubauer, B.

Somatic PIK3CA Mosaic as a Cause of Hemimegalencephaly and Congenital Infiltrating Lipomatosis of the Face

Sulcal Artery Syndrome in a 10-Year-Old Boy

Neumann, H.

Rolandic Epilepsy: Retrospective Analysis of Neuropsychological and Clinical Data

Cognitive Development in Children with Rolandic Epilepsy: Results of a Current PubMed Search

Nickel, M.

The DEM-CHILD Neuronal Ceroid Lipofuscinoses Patient Database: A Tool for the Evaluation of Therapies in Neuronal Ceroid Lipofuscinoses

Optic Atrophy in an Iron Storage Disorder Reducing Tissue Iron Load in a Child with MPAN Disease

Hypomyelination without Hypogonadotropic Hypogonadism and Hypodontia as a Variant of 4H Syndrome

Hematopoietic Stem Cell Transplantation for Late-Onset Krabbe Disease

Late Talkers in Late Infantile CLN2 Disease: Red Flag for an Early Diagnosis

Nicolai, J.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Niedermaier, S.

Association between Analgosedation of Premature Infants Using Fentanyl with Neurodevelopmental Outcome at the Corrected Age of 24 Months

Nigro, V.

LYSOPLEX: An Efficient Toolkit to Detect Sequence Variations in Genes Involved in the Lysosomal-Autophagic Pathway and Neurodegenerative Diseases

Niklasch, M.

The Objective Measurement of Diadochokinesis in Children with Bilateral Spastic Cerebral Palsy

Nolte-Buchholtz, S.

Concepts of Pediatric Palliative Care in Medical Complex Children with Neurodegenerative Disease: Concurrent Care is an Option

Noßwitz, U.

ADEM-Like Presentation as the Main Manifestation of X-Linked Lymphoproliferative Disease in a 4-Year-Old Male Patient

Och, U.

Ketogenic Diet in Childhood Pharmacoresistant Epilepsy

Ohlenbusch, A.

Hematopoietic Stem Cell Transplantation for Late-Onset Krabbe Disease

Olbrich, H.

Subcellular Analysis of the Motor Protein Apparatus in Ependymal Cilia

Omran, H.

Subcellular Analysis of the Motor Protein Apparatus in Ependymal Cilia

Nephronophthisis Registry

Ciliopathies with Hepatic Involvement the Broad Phenotypical Spectrum of TMEM67 Mutations

Ketogenic Diet in Childhood Pharmacoresistant Epilepsy

Ong, T.

Design of a Confirmatory Phase 3, Multicenter, Randomized, Double Blind, Placebo-Controlled Study (ACT DMD) of Ataluren in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

Oser, N.

Internetwork Connectivity Alterations in Children with Benign Epilepsy with Centrotemporal Spikes

Papuc, M.

A Novel Plasma Biomarker for Snyder Robinson Syndrome (X-Linked Spermine Synthase Deficiency)

Pascal, J.

A Novel Plasma Biomarker for Snyder Robinson Syndrome (X-Linked Spermine Synthase Deficiency)

Pascher, B.

Hemispheric Dissociation between Ipsilateral Motor and Contralateral Somatosensory Representation of the Paretic Hand: Deterioration of Hand Function after Hemispherotomy in a Case of Hemispheric Polymicrogyria

Paulussen, M.

ADEM-Like Presentation as the Main Manifestation of X-Linked Lymphoproliferative Disease in a 4-Year-Old Male Patient

Pellacani, S.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Pellanda, G.

High Prevalence of Pathologic Copy Number Variations Detected by Array Comparative Genomic Hybridization in Children with Autism Spectrum Disorders: The Experience of Southern Switzerland

Peltz, S.

Design of a Confirmatory Phase 3, Multicenter, Randomized, Double Blind, Placebo-Controlled Study (ACT DMD) of Ataluren in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

Pennekamp, P.

Subcellular Analysis of the Motor Protein Apparatus in Ependymal Cilia

Penner, I.

Internetwork Connectivity Alterations in Children with Benign Epilepsy with Centrotemporal Spikes

Perret-Hoigné, E.

LPIN1 Mutations are an Important Cause of Rhabdomyolysis

Petermann, F.

Cognitive Development in Children with Rolandic Epilepsy: Results of a Current PubMed Search

Philip, S.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Phillipi, H.

Unraveling the Genotype-Specific Response to Antiepileptic Medication in LIS1 Associated Classic Lissencephaly

Picker-Minh, S.

Pontine Tegmental Cap Dysplasia in an Extremely Low Birth Weight Preterm Infant

Identification of Novel MCPH Genes: A Study of Consanguineous Families of Pakistani Descent

Pieper, T.

Hemispheric Dissociation between Ipsilateral Motor and Contralateral Somatosensory Representation of the Paretic Hand: Deterioration of Hand Function after Hemispherotomy in a Case of Hemispheric Polymicrogyria

Focal Cortical Dysplasia in a Family with KCNQ3 Mutation

Piepkorn, M.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Pietz, J.

Postnatal Microcephaly, Dyskinesia, and Agenesis of the Corpus Callosum as Indication of FOXG1-Related Disorders: A Case Report

German Version and Standardization of the Bayley Scales of Infant and Toddler Development, 3rd Edition: First Results on Clinical Validity and Criteria Validity of the Cognitive Scale and Language Scale

Piroth, W.

Never Trust a Normal MRI

Plecko, B.

A Novel Plasma Biomarker for Snyder Robinson Syndrome (X-Linked Spermine Synthase Deficiency)

Poloni, C.

Quality of Life 5 Years after Neonatal Arterial Ischemic Stroke: Is there an Association with Hand Motor Performance?

Poretti, A.

Corpus Callosum Anomalies in Joubert Syndrome: Low Prevalence and Weak Phenotype–Genotype Correlation

Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1

Oral-Facial-Digital Syndrome Type VI: is C5orf42 Really the Major Gene?

Cerebellar Cysts in Children: A Pattern-Recognition Approach

Cerebellar Cysts in Children: A Pattern-Recognition Approach

Brain Stem Disconnection: Two Additional Patients and Expansion of the Phenotype

Brain Stem Disconnection: Two Additional Patients and Expansion of the Phenotype

Poschmann, S.

Heterozygous Mutation in the KCNMA1 Gene with “Loss of Function” Phenotype in a Patient with Generalized Epilepsy

Prehl, I.

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy

Pringsheim, M.

Retrospective Analysis of Tetrahydrocannabinol Based on 31 Neurologically Critically Ill Children

Focal Cortical Dysplasia in a Family with KCNQ3 Mutation

Prokisch, H.

Leigh-Like Course of Progressive Encephalopathy Associated with ECHS1-Mutation— A Case Report

Proquitté, H.

Pontine Tegmental Cap Dysplasia in an Extremely Low Birth Weight Preterm Infant

Puk, O.

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy

Pulido, R. Poma

Muscle Contractures in Children with Spastic Cerebral Palsy

Quasthoff, S.

Neuralgic Amyotrophy: A Rare Disease in Adolescence

Raile, V.

Pontine Tegmental Cap Dysplasia in an Extremely Low Birth Weight Preterm Infant

Ramelli, G.

High Prevalence of Pathologic Copy Number Variations Detected by Array Comparative Genomic Hybridization in Children with Autism Spectrum Disorders: The Experience of Southern Switzerland

Quality of Life 5 Years after Neonatal Arterial Ischemic Stroke: Is there an Association with Hand Motor Performance?

Arrested Hydrocephalus in Children: Report of Five Consecutive Cases and Comprehensive Review of the Literature

Rating, D.

Quinidine: A Targeted Drug Treatment for Patients with the Syndrome of Malignant Migrating Partial Seizures in Infancy and KCNT1 Mutation

Rauch, A.

A Novel Plasma Biomarker for Snyder Robinson Syndrome (X-Linked Spermine Synthase Deficiency)

Rautenstrauss, B.

Novel Mutation in the Inverted Formin 2 Gene in a Family with Hereditary Motor and Sensory Neuropathy, and Nephropathy

Reha, A.

Design of a Confirmatory Phase 3, Multicenter, Randomized, Double Blind, Placebo-Controlled Study (ACT DMD) of Ataluren in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

Rehm, D.

Acute Hemiparesis Revealing Neuroborreliosis in a 3-Year-Old Boy

Reich, B.

Somatic PIK3CA Mosaic as a Cause of Hemimegalencephaly and Congenital Infiltrating Lipomatosis of the Face

Reichardt, H.

Bone Marrow Transplantation in a Mouse Model for Rett Syndrome

Reichardt, S.

Bone Marrow Transplantation in a Mouse Model for Rett Syndrome

Reicherter, K.

Developmental Profile of 3-Year-Old Girl with Atypical Rett Syndrome with Detection of a Currently Unpublished Mutation in the MECP2 Gen

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy

Reihle, C.

MERS: Mild Encephalopathy/Encephalitis with Reversible Lesions in the Splenium Another Three Cases

Manganese Storage Disease as a Rare Cause of Dystonia with Bilateral Changes in Basal Ganglia and Polycythemia

Longitudinally Extensive Transverse Myelitis in Four Children

Rettig, O.

The Objective Measurement of Diadochokinesis in Children with Bilateral Spastic Cerebral Palsy

Reuner, G.

Juvenile Scleroderma with Isolated CNS Manifestations: Difficulties in Diagnosis and Possible Treatment Plans

German Version and Standardization of the Bayley Scales of Infant and Toddler Development, 3rd Edition: First Results on Clinical Validity and Criteria Validity of the Cognitive Scale and Language Scale

Reutlinger, C.

Cerebral Palsy and Breathing: More than Prophylaxis of Pneumonia

Opsoclonus Myoclonus Syndrome: A Case Report

Ries, M.

Neurological Multicenter Clinical Research in Vulnerable Populations: Variability in Institutional Review Boards' Responses

Riesch, E.

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy

Rieß, A.

Genotype and Phenotype in 34 Families with Genetically Confirmed Walker-Warburg Syndrome or Muscle Eye Brain Disease

Rödl, T.

Genotype and Phenotype in 34 Families with Genetically Confirmed Walker-Warburg Syndrome or Muscle Eye Brain Disease

Rolfs, A.

Manganese Storage Disease as a Rare Cause of Dystonia with Bilateral Changes in Basal Ganglia and Polycythemia

Romani, M.

Corpus Callosum Anomalies in Joubert Syndrome: Low Prevalence and Weak Phenotype–Genotype Correlation

Oral-Facial-Digital Syndrome Type VI: is C5orf42 Really the Major Gene?

Rosenbaum, T.

Nevus Anemicus as Indication of Neurofibromatosis Type 1 in Childhood

Rosenkranz, J.

German Version and Standardization of the Bayley Scales of Infant and Toddler Development, 3rd Edition: First Results on Clinical Validity and Criteria Validity of the Cognitive Scale and Language Scale

Ross, S.

Unraveling the Genotype-Specific Response to Antiepileptic Medication in LIS1 Associated Classic Lissencephaly

Rossegg, U.

Unraveling the Genotype-Specific Response to Antiepileptic Medication in LIS1 Associated Classic Lissencephaly

Rostasy, K.

ADEM-Like Presentation as the Main Manifestation of X-Linked Lymphoproliferative Disease in a 4-Year-Old Male Patient

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Headache and Focal Status Epilepticus as Initial Symptom of POLG Mutation

Röthlisberger, B.

Old Drug, New Mutation in Neonatal Epileptic Encephalopathies

Ruf, S.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Russ, A.

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy

Rutz, E.

Improved Muscle Function in Duchenne Muscular Dystrophy using a Combination of L-Arginine and Metformin

Saft, C.

Therapeutic Options in Treatment of Juvenile Huntington Disease: Difference to Adult Patients

Sánchez, I. Fernández

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Sauter, T.

Longitudinally Extensive Transverse Myelitis in Four Children

Schallner, J.

Concepts of Pediatric Palliative Care in Medical Complex Children with Neurodegenerative Disease: Concurrent Care is an Option

Schara, U.

Genotype and Phenotype in 34 Families with Genetically Confirmed Walker-Warburg Syndrome or Muscle Eye Brain Disease

Growth and Endocrinological Evaluation in Autosomal Recessive Proximal Spinal Muscular Atrophies Type I–III

X-Linked Myotubular Myopathy Clinical Improvement by Use of Pyridostigmine in an Infant

Scheer, I.

Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1

Somatic PIK3CA Mosaic as a Cause of Hemimegalencephaly and Congenital Infiltrating Lipomatosis of the Face

Cerebellar Cysts in Children: A Pattern-Recognition Approach

Schiffmann, H.

Brain Stem Disconnection: Two Additional Patients and Expansion of the Phenotype

Schimmel, M.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Schimpfößl, M.

Retrospective Analysis of Tetrahydrocannabinol Based on 31 Neurologically Critically Ill Children

Schirmer, S.

Mutation Spectrum and Infantile Manifestation in Hereditary Spastic Paraplegia

Schlachter, K.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Schmiedel, G.

Longitudinally Extensive Transverse Myelitis in Four Children

Schmitt, B.

A Novel Plasma Biomarker for Snyder Robinson Syndrome (X-Linked Spermine Synthase Deficiency)

Schmitt-Mechelke, T.

Quality of Life 5 Years after Neonatal Arterial Ischemic Stroke: Is there an Association with Hand Motor Performance?

Feasibility and Usefulness of Rapid 2 Channel EEG Monitoring for Acute CNS Disorders in the Pediatric Emergency Ward

Old Drug, New Mutation in Neonatal Epileptic Encephalopathies

Schneider, J.

Arrested Hydrocephalus in Children: Report of Five Consecutive Cases and Comprehensive Review of the Literature

Impact of Advanced MRI Imaging in Acute Stroke-Like Episodes

Internetwork Connectivity Alterations in Children with Benign Epilepsy with Centrotemporal Spikes

Acute Hemiparesis Revealing Neuroborreliosis in a 3-Year-Old Boy

Schober, H.

Spinal Cord Monitoring in Patients with SMA Type III: A Case Report

Scholl-Bürgi, S.

Headache and Focal Status Epilepticus as Initial Symptom of POLG Mutation

Schöls, L.

Intrafamilial Variability of Natural Disease Course in Metachromatic Leukodystrophy

Schriever, V.

Olfactory Function in Head Trauma Patients a Link to Frontal Brain Damage?

Schröder, S.

Cerebral Palsy and Breathing: More than Prophylaxis of Pneumonia

Health-Related Quality of Life of Children with Vertigo: Retrospective Study at the German Center for Vertigo and Balance Disorders

Schroth, M.

Manganese Storage Disease as a Rare Cause of Dystonia with Bilateral Changes in Basal Ganglia and Polycythemia

Schuhmann, M.

Clinical and Imaging Findings and Postoperative Esthetic Results in Patients with Single or Bilateral Coronal Synostosis

Schuler, E.

Juvenile Scleroderma with Isolated CNS Manifestations: Difficulties in Diagnosis and Possible Treatment Plans

Bohring-Opitz Syndrome: Mutation in the ASXL1 Gene as a Rare Cause of Mental Retardation with Failure to Thrive and Characteristic Phenotype

Schulte-Mattler, U.

Mutation Spectrum and Infantile Manifestation in Hereditary Spastic Paraplegia

Schulz, A.

The DEM-CHILD Neuronal Ceroid Lipofuscinoses Patient Database: A Tool for the Evaluation of Therapies in Neuronal Ceroid Lipofuscinoses

Optic Atrophy in an Iron Storage Disorder Reducing Tissue Iron Load in a Child with MPAN Disease

LYSOPLEX: An Efficient Toolkit to Detect Sequence Variations in Genes Involved in the Lysosomal-Autophagic Pathway and Neurodegenerative Diseases

Late Talkers in Late Infantile CLN2 Disease: Red Flag for an Early Diagnosis

Schulze, A.

Association between Analgosedation of Premature Infants Using Fentanyl with Neurodevelopmental Outcome at the Corrected Age of 24 Months

Schulze-Bonhage, A.

Fast fMRI Sequence Allows for Analysis of BOLD Responses to Single Interictal Epileptic Spikes

Schulzke, S.

The Impact of Infectious Diseases on Sleeping Behavior in Preterm Infants

Immediate Effects of Phototherapy on Sleep of Very Preterm Neonates: An Observational Study

Schützle, H.

Novel Mutation in the DCK1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome as a Rare Differential Diagnosis in Primary Microcephaly, Cerebellar Hypoplasia, and Severe Developmental Delay with Progressive Bone Marrow Failure

Schwartz, O.

Subcellular Analysis of the Motor Protein Apparatus in Ependymal Cilia

Schwerin-Nagel, A.

Neuralgic Amyotrophy: A Rare Disease in Adolescence

Seifert-Held, T.

Neuralgic Amyotrophy: A Rare Disease in Adolescence

Seitz, A.

Postnatal Microcephaly, Dyskinesia, and Agenesis of the Corpus Callosum as Indication of FOXG1-Related Disorders: A Case Report

Selzer, L.

Rolandic Epilepsy: Retrospective Analysis of Neuropsychological and Clinical Data

Cognitive Development in Children with Rolandic Epilepsy: Results of a Current PubMed Search

Seute, T.

Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1

Severin, C.

Longitudinally Extensive Transverse Myelitis in Four Children

Shamdeen, G.

Genotype and Phenotype in 34 Families with Genetically Confirmed Walker-Warburg Syndrome or Muscle Eye Brain Disease

Siebner, H.

Transcranial Biphasic Quadro-Pulse Stimulation with One but not Two Full-Sine Cycles Induces Long-Term Depression-Like Changes in Corticomotor Excitability

Siebold, D.

Baby-CIMT as Part of a Rehabprogram for Unilateral CP Especially for Very Young Infants

Simma, B.

Spinal Cord Monitoring in Patients with SMA Type III: A Case Report

Simmons, L.

A Novel Plasma Biomarker for Snyder Robinson Syndrome (X-Linked Spermine Synthase Deficiency)

Simonati, A.

The DEM-CHILD Neuronal Ceroid Lipofuscinoses Patient Database: A Tool for the Evaluation of Therapies in Neuronal Ceroid Lipofuscinoses

Singh, Y.

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy

Sinha, K.

Never Trust a Normal MRI

Sinnreich, M.

Improved Muscle Function in Duchenne Muscular Dystrophy using a Combination of L-Arginine and Metformin

Smitka, M.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

The Depth of the Olfactory Sulcus in Normosmic Children and Adolescents

Olfactory Function in Head Trauma Patients a Link to Frontal Brain Damage?

Sommerburg, O.

Diagnostic Pitfalls in Tuberculous Meningitis

Speckmann, C.

Immunomodulatory Treatment of a Patient with Cross-Reactive Immunologic Material Negative Infantile Pompe Disease and Hypertrophic Cardiomyopathy

Spiegel, R.

Design of a Confirmatory Phase 3, Multicenter, Randomized, Double Blind, Placebo-Controlled Study (ACT DMD) of Ataluren in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

Spiegler, J.

Very Low Birth Weight Infants in Germany: How many Therapies Do They Get until Preschool Age?

Case Report: Patient with POLG Mutation with the Clinical Picture of a Myocerebrohepatopathy Syndrome

Opsoclonus Myoclonus Syndrome: A Case Report

Stahl, A.

Therapeutic Options in Treatment of Juvenile Huntington Disease: Difference to Adult Patients

Staudt, M.

Explorative Saccade Training for Children with Homonymous Hemianopia: Case Report and Presentation of a Planned Study

Retrospective Analysis of Tetrahydrocannabinol Based on 31 Neurologically Critically Ill Children

A Comparison of Language Lateralization as Assessed using Functional MRI using Scanner-Generated versus Externally Calculated Statistical Parameter Maps

Hemispheric Dissociation between Ipsilateral Motor and Contralateral Somatosensory Representation of the Paretic Hand: Deterioration of Hand Function after Hemispherotomy in a Case of Hemispheric Polymicrogyria

Focal Cortical Dysplasia in a Family with KCNQ3 Mutation

Steindl, K.

A Novel Plasma Biomarker for Snyder Robinson Syndrome (X-Linked Spermine Synthase Deficiency)

Steiner, B.

Old Drug, New Mutation in Neonatal Epileptic Encephalopathies

Steinlin, M.

Pontocerebellar Hypoplasia Type 9: A New Subtype

Quality of Life 5 Years after Neonatal Arterial Ischemic Stroke: Is there an Association with Hand Motor Performance?

Longitudinal Functional Reorganization after Pediatric Stroke: A Descriptive Case Study

Oral-Facial-Digital Syndrome Type VI: is C5orf42 Really the Major Gene?

LPIN1 Mutations are an Important Cause of Rhabdomyolysis

Steinmetz, C.

Connatal Nutritional Deficiency of Vitamin B12 in a Newborn with Early Neurologic Symptoms

Stettner, G.

Novel Mutation in the Inverted Formin 2 Gene in a Family with Hereditary Motor and Sensory Neuropathy, and Nephropathy

Stöbe, P.

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy

Storch, K.

Acute Necrotizing Encephalopathy: Two Cases and the Detection of a New RANBP2 Mutation

Striano, P.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Stroedter, L.

Neuralgic Amyotrophy: A Rare Disease in Adolescence

Studer, M.

Quality of Life 5 Years after Neonatal Arterial Ischemic Stroke: Is there an Association with Hand Motor Performance?

Sukhudyan, B.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Suttorp, M.

Novel Mutation in the DCK1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome as a Rare Differential Diagnosis in Primary Microcephaly, Cerebellar Hypoplasia, and Severe Developmental Delay with Progressive Bone Marrow Failure

Tacke, U.

Impact of Advanced MRI Imaging in Acute Stroke-Like Episodes

Acute Hemiparesis Revealing Neuroborreliosis in a 3-Year-Old Boy

Teuscher, M.

Quality of Life 5 Years after Neonatal Arterial Ischemic Stroke: Is there an Association with Hand Motor Performance?

Thiede, A.

The Developmental Coordination Disorder Questionnaire—German Version—in a Pediatric Outpatient Clinic for Communication Disorders

Thiels, C.

Infantile Manifestation of a Mitochondriopathy due to a Homozygous Mutation in DARS2 Gene

Rolandic Epilepsy: Retrospective Analysis of Neuropsychological and Clinical Data

Cognitive Development in Children with Rolandic Epilepsy: Results of a Current PubMed Search

Therapeutic Options in Treatment of Juvenile Huntington Disease: Difference to Adult Patients

Thomas, E.

Improved Muscle Function in Duchenne Muscular Dystrophy using a Combination of L-Arginine and Metformin

Till, H.

Focal Cortical Dysplasia in a Family with KCNQ3 Mutation

Toelle, S.

Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1

Cerebellar Cysts in Children: A Pattern-Recognition Approach

Trauzettel-Klosinski, S.

Explorative Saccade Training for Children with Homonymous Hemianopia: Case Report and Presentation of a Planned Study

Trippe, H.

Genotype and Phenotype in 34 Families with Genetically Confirmed Walker-Warburg Syndrome or Muscle Eye Brain Disease

Growth and Endocrinological Evaluation in Autosomal Recessive Proximal Spinal Muscular Atrophies Type I–III

X-Linked Myotubular Myopathy Clinical Improvement by Use of Pyridostigmine in an Infant

Trollmann, R.

Leigh-Like Course of Progressive Encephalopathy Associated with ECHS1-Mutation— A Case Report

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Rare Variant of GM2 Gangliosidosis due to Activator Protein Deficiency: A Case Report

Turova, V.

Cerebral Blood Circulation in Premature Infants by Means of Mathematical Modeling

Vaassen, P.

Nevus Anemicus as Indication of Neurofibromatosis Type 1 in Childhood

Valente, E.

Corpus Callosum Anomalies in Joubert Syndrome: Low Prevalence and Weak Phenotype–Genotype Correlation

Oral-Facial-Digital Syndrome Type VI: is C5orf42 Really the Major Gene?

van Rappard, D.

Intrafamilial Variability of Natural Disease Course in Metachromatic Leukodystrophy

Vermeulen, J.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Viellieber, M.

Quinidine: A Targeted Drug Treatment for Patients with the Syndrome of Malignant Migrating Partial Seizures in Infancy and KCNT1 Mutation

Vollrath, G.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

von der Hagen, M.

Novel Mutation in the DCK1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome as a Rare Differential Diagnosis in Primary Microcephaly, Cerebellar Hypoplasia, and Severe Developmental Delay with Progressive Bone Marrow Failure

Concepts of Pediatric Palliative Care in Medical Complex Children with Neurodegenerative Disease: Concurrent Care is an Option

von Kalle, T.

MERS: Mild Encephalopathy/Encephalitis with Reversible Lesions in the Splenium Another Three Cases

Manganese Storage Disease as a Rare Cause of Dystonia with Bilateral Changes in Basal Ganglia and Polycythemia

Longitudinally Extensive Transverse Myelitis in Four Children

von Kries, R.

Health-Related Quality of Life of Children with Vertigo: Retrospective Study at the German Center for Vertigo and Balance Disorders

von Stülpnagel-Steinbeis, C.

Retrospective Analysis of Tetrahydrocannabinol Based on 31 Neurologically Critically Ill Children

Vosschulte, P.

Unraveling the Genotype-Specific Response to Antiepileptic Medication in LIS1 Associated Classic Lissencephaly

Waibel, J.

Intrafamilial Variability of Natural Disease Course in Metachromatic Leukodystrophy

Wallmeier, J.

Subcellular Analysis of the Motor Protein Apparatus in Ependymal Cilia

Weber, P.

Attention Problems in Children with Epilepsy. How is the Long-Term Outcome?

The Impact of Infectious Diseases on Sleeping Behavior in Preterm Infants

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1

Impact of Advanced MRI Imaging in Acute Stroke-Like Episodes

Internetwork Connectivity Alterations in Children with Benign Epilepsy with Centrotemporal Spikes

Immediate Effects of Phototherapy on Sleep of Very Preterm Neonates: An Observational Study

Wegener, J.

Bone Marrow Transplantation in a Mouse Model for Rett Syndrome

Weigt-Usinger, K.

Rolandic Epilepsy: Retrospective Analysis of Neuropsychological and Clinical Data

Cognitive Development in Children with Rolandic Epilepsy: Results of a Current PubMed Search

Weisbrod, T.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Weissert, R.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Weisstanner, C.

Longitudinal Functional Reorganization after Pediatric Stroke: A Descriptive Case Study

Wenner, K.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Wieczorek, D.

Genotype and Phenotype in 34 Families with Genetically Confirmed Walker-Warburg Syndrome or Muscle Eye Brain Disease

Wiemer-Kruel, A.

Modified Atkins Diet, an Alternative Treatment of Glucose Transporter Type 1 Deficiency Syndrome

Wiesel, T.

ADEM-Like Presentation as the Main Manifestation of X-Linked Lymphoproliferative Disease in a 4-Year-Old Male Patient

Wiesmann, C.

Design of a Confirmatory Phase 3, Multicenter, Randomized, Double Blind, Placebo-Controlled Study (ACT DMD) of Ataluren in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

Wiest, R.

Longitudinal Functional Reorganization after Pediatric Stroke: A Descriptive Case Study

Wilhelm, C.

Diagnostic Panels: A Powerful Tool to Identify the Underlying Genetic Cause in Neuromuscular Diseases

Wilichowski, E.

Novel Mutation in the Inverted Formin 2 Gene in a Family with Hereditary Motor and Sensory Neuropathy, and Nephropathy

Wilke, M.

A Comparison of Language Lateralization as Assessed using Functional MRI using Scanner-Generated versus Externally Calculated Statistical Parameter Maps

Wilken, B.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Wilkens, B.

Cerebral Palsy and Breathing: More than Prophylaxis of Pneumonia

Will, B.

Clinical and Imaging Findings and Postoperative Esthetic Results in Patients with Single or Bilateral Coronal Synostosis

William, R.

The DEM-CHILD Neuronal Ceroid Lipofuscinoses Patient Database: A Tool for the Evaluation of Therapies in Neuronal Ceroid Lipofuscinoses

Winkler, P.

Hemispheric Dissociation between Ipsilateral Motor and Contralateral Somatosensory Representation of the Paretic Hand: Deterioration of Hand Function after Hemispherotomy in a Case of Hemispheric Polymicrogyria

Focal Cortical Dysplasia in a Family with KCNQ3 Mutation

Wittmann, W.

Mutation Spectrum and Infantile Manifestation in Hereditary Spastic Paraplegia

Wolf, N.

Intrafamilial Variability of Natural Disease Course in Metachromatic Leukodystrophy

Oral-Facial-Digital Syndrome Type VI: is C5orf42 Really the Major Gene?

Hypomyelination without Hypogonadotropic Hypogonadism and Hypodontia as a Variant of 4H Syndrome

Wolf, P.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Wolf, S.

The Objective Measurement of Diadochokinesis in Children with Bilateral Spastic Cerebral Palsy

Wolff, M.

Quinidine: A Targeted Drug Treatment for Patients with the Syndrome of Malignant Migrating Partial Seizures in Infancy and KCNT1 Mutation

Wörle, H.

MERS: Mild Encephalopathy/Encephalitis with Reversible Lesions in the Splenium Another Three Cases

Manganese Storage Disease as a Rare Cause of Dystonia with Bilateral Changes in Basal Ganglia and Polycythemia

Ziegler, A.

Diagnostic Pitfalls in Tuberculous Meningitis

Juvenile Scleroderma with Isolated CNS Manifestations: Difficulties in Diagnosis and Possible Treatment Plans

Bohring-Opitz Syndrome: Mutation in the ASXL1 Gene as a Rare Cause of Mental Retardation with Failure to Thrive and Characteristic Phenotype

Genetically Misdiagnosed Duchenne: Confirmation of a Becker Muscle Dystrophy with Proof of an In-Frame Mutation with Deletion of Three Additional Exons on mRNA Level Based on Experimental cDNA Analysis

Zielonka, M.

Diagnostic Pitfalls in Tuberculous Meningitis

Zsoter, A.

A Comparison of Language Lateralization as Assessed using Functional MRI using Scanner-Generated versus Externally Calculated Statistical Parameter Maps

Hemispheric Dissociation between Ipsilateral Motor and Contralateral Somatosensory Representation of the Paretic Hand: Deterioration of Hand Function after Hemispherotomy in a Case of Hemispheric Polymicrogyria