Abstracts of the 36th Annual Meeting of the Society of Neuropediatrics

Abdul-Khaliq, H

The role of EEG in monitoring cerebral dysfunction before and after cardiac surgery in children congenital heart disease

Abels, C

Globoid cell leukodystrophy (Morbus Krabbe) – Case report with characteristic clinical and imaging features

Narcolepsy in early childhood – a case study with video

First experiences with Lacosamid for treatment of therapy-resistant epilepsy in early childhood

Acquaviva, C

Neonatal hypotonia with burst suppression pattern reveals non ketotic hyperglycinemia associated with P-protein deficiency

Ae Lee-Kirsch, M

Lupus erythematosus and Aicardi-Goutières Syndrome: a continuum of immune mediated diseases

Aksu, F

The use of Quantitative sensory testing for sensible diabetic neuropathy in children and adults

Quantitative Sensory Testing in children and adolescents with cerebral palsy

Developmental and sex differences of somatosensory perception

Alber, M

Intensive immunmodulatory therapy in a 3 year old child with anti-NMDA-receptor encephalitis

Althaus, J

Calpainopathy as differential diagnosis of idiopathic hyperCKemia

Autosomal dominant CMT-Type IB (Charcot-Marie-Tooth Neuropathy) as a differential diagnosis of clinically diagnosed autosomal recessive demyelinating CMT-Type 4E

Dysembryoplastic neuroepithelial tumor (DNET) in a patient with Noonan syndrome

Hypothalamic and pituitary affection after traumatic brain injury in childhood

DWI and Proton weighted MRI seems to be a highly sensitive marker of pathological activity in pediatric multiple sclerosis

Arnold, M

Differences in risk-factors, aetiology and outcome between children and young adults with acute ischaemic stroke

Assmann, B

„Fixed dystonia“ syndrome after peripheral trauma in two adolescent girls

Dopamine transporter defect: Infantile parkinsonism-dystonia with elevated dopamine metabolites in cerebrospinal fluid is genetically resolved

Use of guidelines improves the neurological outcome in glutaric aciduria type I

Auber, B

FMR2 gene deletion as a cause of non-specific mental retardation and autistic behavior in two brothers

Axer, S

MRI abnormalities associated with Vigabatrin treatment – a longitudinal case study and an atypical case

Baethmann, M

Intracranial hypertension in a boy with infantile hypophosphatasia requiring shunt installation

Baldeweg, T

Microstructural alterations of motor pathways in adolescents born preterm

Baric, I

Towards the genetic defect in MEGDEL syndrome: Four novel patients

Bast, T

Lupus erythematosus and Aicardi-Goutières Syndrome: a continuum of immune mediated diseases

Functional hemispherotomy for refractory epilepsy in pediatric patients: the right person at the right time

Bauer, MF

Novel Missence Mutation in the BCS1L Gene as a Cause of mitochondrial encephalopathy with Fanconi Syndrome

Bauer, O

European paediatric patients with neuromyelitis optica: a good prognosis for most and seronegative to NMO-IgG

Bäumer, T

Impaired long term potentiation (LTP)-like plasticity in patients with high functiong autism and Asperger syndrome (HFA/AS)

Baz Bartels, M

Calpainopathy as differential diagnosis of idiopathic hyperCKemia

Autosomal dominant CMT-Type IB (Charcot-Marie-Tooth Neuropathy) as a differential diagnosis of clinically diagnosed autosomal recessive demyelinating CMT-Type 4E

Dysembryoplastic neuroepithelial tumor (DNET) in a patient with Noonan syndrome

DWI and Proton weighted MRI seems to be a highly sensitive marker of pathological activity in pediatric multiple sclerosis

Bentele, KHP

Blindness due to unrecognized bilateral optic nerve sheath meningioma in a 14-year-old girl (case report)

Berger, C

Constraint-induced movement therapy (CIMT) for hemiparetic children in comparison to bimanual treatment – what is (more) effective?

Bergmann, K

Patient safety on a paediatric neurology ward – prevention of drug administration errors by cooperation with clinical pharmacists

Bertsche, A

Patient safety on a paediatric neurology ward – prevention of drug administration errors by cooperation with clinical pharmacists

Bertsche, T

Patient safety on a paediatric neurology ward – prevention of drug administration errors by cooperation with clinical pharmacists

Bevot, A

Lupus erythematosus and Aicardi-Goutières Syndrome: a continuum of immune mediated diseases

Bien, CG

Diffusion tensor imaging demonstrates effectiveness of immunotherapy for Rasmussen's encephalitis

Intensive immunmodulatory therapy in a 3 year old child with anti-NMDA-receptor encephalitis

Bigi, S

Differences in risk-factors, aetiology and outcome between children and young adults with acute ischaemic stroke

Biscaldi-Schäfer, M

Impaired long term potentiation (LTP)-like plasticity in patients with high functiong autism and Asperger syndrome (HFA/AS)

Blankenburg, M

The use of Quantitative sensory testing for sensible diabetic neuropathy in children and adults

Quantitative Sensory Testing in children and adolescents with cerebral palsy

Developmental and sex differences of somatosensory perception

Blüthner, M

European paediatric patients with neuromyelitis optica: a good prognosis for most and seronegative to NMO-IgG

Böckelman, S

Temporary neonatal respiratory disorder – Early-onset-variation of Ondine's curse

Bockius, D

Proposal on an evaluation form for the standardized indication of physiotherapy and occupational therapy and scientific application in neonatology

Boltshauser, E

Differences in risk-factors, aetiology and outcome between children and young adults with acute ischaemic stroke

Bönnemann, CG

Phenotype and long-term follow-up of juvenile Selenoprotein N1-related myopathy (SEPN1-RM)

Boor, R

Clinical characterization of Dopa-responsive Dystonia in two brothers with homozygous GCH1 mutations and effects of pre-natal levodopa therapy

EEG-fMRI: Including sleep-induced potentials in the general linear model improves spatial accordance with epileptic focus

Borusiak, P

MRI in children with epilepsy and hydrocephalus – the clinical relevance of improved techniques

Long-term outcome of Alice-in-Wonderland-Syndrome: Results from a case series of 12 patients

Böss, A

Steadiness/stability of antiepileptic drugs in serum, plasma and whole-blood samples under various storage methods

Boy, SPN

Use of guidelines improves the neurological outcome in glutaric aciduria type I

Brandl, A

Correlations between early stress experiences and later behavior regulation in premature born toddlers with low and very low birth weight at the age of two years

Brandl, U

ADAMTS13 dysfunction and a novel frameshift mutation in the TREX1 gene in a patient with Aicardi-Goutières syndrome

Brandt, A

Impaired motor cortex plasticity in patients with Noonan syndrome

Brassel, F

The plexiform neurofibroma is an important differential diagnosis of congenital facial swelling

Braulke, T

High phenotype variability in CLN3 patients with identical genotype

Identification of potential biomarkers and modifiers of CLN3-disease progression

Breuer, K

Intracranial hypertension in a boy with infantile hypophosphatasia requiring shunt installation

Brocke, K

Case report of a 1-year old girl with β-ureidopropionase deficiency and development of cystic encephalomalacia

Brockmann, K

FMR2 gene deletion as a cause of non-specific mental retardation and autistic behavior in two brothers

Clinical neurophysiology for differentiation between Pelizaeus-Merzbacher Disease and Pelizaeus-Merzbacher-like Disease

Polymicrogyria in Fetal Alcohol Syndrome

Brüggemann, N

Clinical characterization of Dopa-responsive Dystonia in two brothers with homozygous GCH1 mutations and effects of pre-natal levodopa therapy

Brunner-Krainz, M

Infantile Alexander Disease mimicking multilocular astrocytoma

Presentation of 16 paediatric patients manifesting with stroke during 2006–2010

Büchel, A

Promising treatment in a boy with creatine transporter deficiency

Bültmann, E

L-2-hydroxyglutaric aciduria: Infantile versus adult late-onset manifestation

Burgard, P

Use of guidelines improves the neurological outcome in glutaric aciduria type I

Burger, W

From pediatric to adult-orientated care: the „Berliner Transitionsprogramm“

Bürki, S

Differences in risk-factors, aetiology and outcome between children and young adults with acute ischaemic stroke

Christen, HJ

Dopamine transporter defect: Infantile parkinsonism-dystonia with elevated dopamine metabolites in cerebrospinal fluid is genetically resolved

Clarke, NF

Autosomal dominant congenital myopathy with fibre type disproportion due to mutation in the α slow-tropomyosin gene

Classen, G

MRI abnormalities associated with Vigabatrin treatment – a longitudinal case study and an atypical case

Autosomal dominant nocturnal frontal lobe epilepsy in mother and daughter treated with an unusual combination of anticonvulsants

Ketogenic diet in children with difficult to treat epilepsies – 6 years of clinical experience

Coker, M

Towards the genetic defect in MEGDEL syndrome: Four novel patients

Connelly, A

Microstructural alterations of motor pathways in adolescents born preterm

Coropceanu, D

EEG-fMRI: Including sleep-induced potentials in the general linear model improves spatial accordance with epileptic focus

Danz, B

Current practice in the management of newborns with spina bifida in Germany

Das, A

L-2-hydroxyglutaric aciduria: Infantile versus adult late-onset manifestation

Das, AM

Neurological complications following renal transplantation in infants and children: A retrospective single centre study

de Brouwer, APM

Towards the genetic defect in MEGDEL syndrome: Four novel patients

Deiters, L

Neurodevelopmental long-term outcome in VLBW preterm infants born in 2000–2004

Preterm and small-for-gestational age: no risk for an adverse cognitive development?

Dekomien, G

Psychiatric symptoms and CK-Elevation as initial manifestations of late-onset Tay-Sachs disease

Muscular hypotonia, joint contractures and elevated creatin kinase level as main symptoms for Congenital muscular dystrophy 1A (MDC 1A/congenital muscular dystrophy with laminin α 2 (merosin) deficiency)

Della Marina, A

ARX-mutation – phenotype and clinical course in two brothers with West Syndrome and developmental delay

Delvendahl, I

Low-Frequency rTMS selectively modulates inhibitory intracortical networks

Impaired motor cortex plasticity in patients with Noonan syndrome

Influence of current direction in transcranial magnetic stimulation (TMS) on MEP amplitude and latency – opportunity of I wave specific evaluation and stimulation

Demir, Z

Temporary neonatal respiratory disorder – Early-onset-variation of Ondine's curse

Denecke, J

Pontine tegmental cap dysplasia: case report of a „new“ disorder with associated cortical malformation

Deppe, M

Diffusion tensor imaging demonstrates effectiveness of immunotherapy for Rasmussen's encephalitis

Deppe, W

Constraint-induced movement therapy (CIMT) for hemiparetic children in comparison to bimanual treatment – what is (more) effective?

Dercks, M

Specific motion patterns of the sagittal, frontal and transversal plane in children with bilateral spastic cerebral palsy: Preliminary results of a cross-sectional study

Robotic-assisted gait training improves gait parameters and functional mobility in patients wit cerebral palsy – preliminary results of a longitudinal study

der Hagen, M von

Case report of a 1-year old girl with β-ureidopropionase deficiency and development of cystic encephalomalacia

Phenotype and long-term follow-up of juvenile Selenoprotein N1-related myopathy (SEPN1-RM)

De Sonneville, L

Impairment of executive functions in pediatric posterior fossa tumor survivors

Dickhaus, H

Evaluation of general movements in infants with an electromagnetic tracking system – first steps towards the discrimination of variability of spontaneous movements

Diekmann, S

RNASET2-deficient cystic leukoencephalopathy: a new lysosomal disorder

Ding, XQ

L-2-hydroxyglutaric aciduria: Infantile versus adult late-onset manifestation

Dinomais, M

Somatosensory system in congenital hemiparesis: clinical assessment and resting state functional connectivity MRI analysis

Dittrich, S

Calpainopathy as differential diagnosis of idiopathic hyperCKemia

Autosomal dominant CMT-Type IB (Charcot-Marie-Tooth Neuropathy) as a differential diagnosis of clinically diagnosed autosomal recessive demyelinating CMT-Type 4E

Dysembryoplastic neuroepithelial tumor (DNET) in a patient with Noonan syndrome

DWI and Proton weighted MRI seems to be a highly sensitive marker of pathological activity in pediatric multiple sclerosis

Döbler-Neumann, M

Eyelid myoclonia with absences (Jeavons syndrome): An unrecognized generalized epileptic syndrome?

Dossal, S

Long-term follow up of preterms below 33 weeks of gestation at school age

Drabsch, C

From pediatric to adult-orientated care: the „Berliner Transitionsprogramm“

Dreha-Kulaczewski, S

Clinical signs and treatment of cerebral folate transport deficiency, a novel inherited disorder of folate metabolism

Dresel, R

Dysembryoplastic neuroepithelial tumor (DNET) in a patient with Noonan syndrome

Driess, J

Laboratory diagnostics of Canavan Disease using EBV-transformed lymphocytes

Dubeau, F

Dynamic analysis of absence seizures in humans: all the same but all different

Dümpelmann, M

HFOs (80–450Hz) recorded with standard intracranial electrodes reflect epileptogenicity in children with focal cortical dysplasia

Ebinger, F

Novel Missence Mutation in the BCS1L Gene as a Cause of mitochondrial encephalopathy with Fanconi Syndrome

Patient safety on a paediatric neurology ward – prevention of drug administration errors by cooperation with clinical pharmacists

Dronabinol for the treatment of unspecific pain, restlessness and spasticity in neuropaediatrics

Prevalence of headache in preschool children

Ehrich, JHH

Neurological complications following renal transplantation in infants and children: A retrospective single centre study

Eitel, H

Feasibility of functional MRI in children and adolescents with neurological disorders – the Vogtareuth experience

El-Koussy, M

Differences in risk-factors, aetiology and outcome between children and young adults with acute ischaemic stroke

Engelke, UFH

Towards the genetic defect in MEGDEL syndrome: Four novel patients

Ensenauer, R

Use of guidelines improves the neurological outcome in glutaric aciduria type I

Enzinger, C

First manifestation and clinical course of eleven paediatric patients with Multiple Sclerosis assigned to the University Hospital of Children and Adolescents of the Medical University Graz from 2001 to 2009

Ernst, JP

Steadiness/stability of antiepileptic drugs in serum, plasma and whole-blood samples under various storage methods

Feldkamp, A

The plexiform neurofibroma is an important differential diagnosis of congenital facial swelling

Ferreiro, A

Phenotype and long-term follow-up of juvenile Selenoprotein N1-related myopathy (SEPN1-RM)

Fiedler, B

Globoid cell leukodystrophy (Morbus Krabbe) – Case report with characteristic clinical and imaging features

Diffusion tensor imaging demonstrates effectiveness of immunotherapy for Rasmussen's encephalitis

CK elevation and progressive toe walking in a 14-year old girl

Narcolepsy in early childhood – a case study with video

First experiences with Lacosamid for treatment of therapy-resistant epilepsy in early childhood

Finetti, C

Neurofibromatosis type 1 and Arnold-Chiari-malformation. An unknown association?

The plexiform neurofibroma is an important differential diagnosis of congenital facial swelling

Fischer, U

Differences in risk-factors, aetiology and outcome between children and young adults with acute ischaemic stroke

Fleischer, J

Constraint-induced movement therapy (CIMT) for hemiparetic children in comparison to bimanual treatment – what is (more) effective?

Fluss, J

Differences in risk-factors, aetiology and outcome between children and young adults with acute ischaemic stroke

Freudenberg, L

Impaired motor cortex plasticity in patients with Noonan syndrome

Furtwängler, R

Neonatal hypotonia with burst suppression pattern reveals non ketotic hyperglycinemia associated with P-protein deficiency

Gad, D

Ketogenic diet in children with difficult to treat epilepsies – 6 years of clinical experience

Gaertner, H

Prevalence of headache in preschool children

Gärtner, J

Autosomal dominant congenital myopathy with fibre type disproportion due to mutation in the α slow-tropomyosin gene

Clinical neurophysiology for differentiation between Pelizaeus-Merzbacher Disease and Pelizaeus-Merzbacher-like Disease

European paediatric patients with neuromyelitis optica: a good prognosis for most and seronegative to NMO-IgG

RNASET2-deficient cystic leukoencephalopathy: a new lysosomal disorder

Clinical signs and treatment of cerebral folate transport deficiency, a novel inherited disorder of folate metabolism

Developmental retardation due to dietary vitamin B12 deficiency during infancy

Polymicrogyria in Fetal Alcohol Syndrome

Gburek-Augustat, J

Eyelid myoclonia with absences (Jeavons syndrome): An unrecognized generalized epileptic syndrome?

Geb, S

Calpainopathy as differential diagnosis of idiopathic hyperCKemia

Autosomal dominant CMT-Type IB (Charcot-Marie-Tooth Neuropathy) as a differential diagnosis of clinically diagnosed autosomal recessive demyelinating CMT-Type 4E

De novo deletion 17p13.1 and duplication 17p11.2 in a seven months-old male infant with the clinical features of Potocki-Lupski syndrome

Dysembryoplastic neuroepithelial tumor (DNET) in a patient with Noonan syndrome

DWI and Proton weighted MRI seems to be a highly sensitive marker of pathological activity in pediatric multiple sclerosis

Gebhardt, B

Promising treatment in a boy with creatine transporter deficiency

Gebhardt, U

Experiences with Laparoscopic Adjustable Gastric banding (LAGB) and Sleeve Gastrectomy (SG) in the treatment of patients with childhood craniopharyngioma and morbid obesity

Impaired satiety regulation in obese patients with craniopharyngioma

Gegner, S

Clinical neurophysiology for differentiation between Pelizaeus-Merzbacher Disease and Pelizaeus-Merzbacher-like Disease

Gerstner, T

Novel Missence Mutation in the BCS1L Gene as a Cause of mitochondrial encephalopathy with Fanconi Syndrome

Functional hemispherotomy for refractory epilepsy in pediatric patients: the right person at the right time

Ghiath Shamdeen, M

Neonatal hypotonia with burst suppression pattern reveals non ketotic hyperglycinemia associated with P-protein deficiency

Gissen, P

Dopamine transporter defect: Infantile parkinsonism-dystonia with elevated dopamine metabolites in cerebrospinal fluid is genetically resolved

Goebel, HH

Autosomal dominant congenital myopathy with fibre type disproportion due to mutation in the α slow-tropomyosin gene

Gortner, L

Neonatal hypotonia with burst suppression pattern reveals non ketotic hyperglycinemia associated with P-protein deficiency

Gotman, J

Dynamic analysis of absence seizures in humans: all the same but all different

Gottschalk, A

Current practice in the management of newborns with spina bifida in Germany

Grapp, M

Clinical signs and treatment of cerebral folate transport deficiency, a novel inherited disorder of folate metabolism

Grieben, U

Phenotype and long-term follow-up of juvenile Selenoprotein N1-related myopathy (SEPN1-RM)

Grimm, T

CK elevation and progressive toe walking in a 14-year old girl

Grodd, W

Metachromatic Leukodystrophy: spatial and temporal pattern of MRI changes and their association with motor deterioration

Gröschel, S

Microstructural alterations of motor pathways in adolescents born preterm

Somatosensory system in congenital hemiparesis: clinical assessment and resting state functional connectivity MRI analysis

Metachromatic Leukodystrophy: spatial and temporal pattern of MRI changes and their association with motor deterioration

Gruber-Sedlmayr, U

First manifestation and clinical course of eleven paediatric patients with Multiple Sclerosis assigned to the University Hospital of Children and Adolescents of the Medical University Graz from 2001 to 2009

Presentation of 16 paediatric patients manifesting with stroke during 2006–2010

Grünert, S

Laboratory diagnostics of Canavan Disease using EBV-transformed lymphocytes

Haas, D

Neonatal hypotonia with burst suppression pattern reveals non ketotic hyperglycinemia associated with P-protein deficiency

Haas-Lude, K

Growth hormone treatment of patients with neurofibromatosis type 1

Hadders-Algra, M

Evaluation of general movements in infants with an electromagnetic tracking system – first steps towards the discrimination of variability of spontaneous movements

Haefeli, WE

Patient safety on a paediatric neurology ward – prevention of drug administration errors by cooperation with clinical pharmacists

Haege, G

Use of guidelines improves the neurological outcome in glutaric aciduria type I

Haffner, D

Pontine tegmental cap dysplasia: case report of a „new“ disorder with associated cortical malformation

Hahn, A

Clinical neurophysiology for differentiation between Pelizaeus-Merzbacher Disease and Pelizaeus-Merzbacher-like Disease

Singultus as main seizure type in a patient with primary generalized epilepsy

Hahn, G

Case report of a 1-year old girl with β-ureidopropionase deficiency and development of cystic encephalomalacia

Hanisch, E

Experiences with Laparoscopic Adjustable Gastric banding (LAGB) and Sleeve Gastrectomy (SG) in the treatment of patients with childhood craniopharyngioma and morbid obesity

Hanke, G

Patient safety on a paediatric neurology ward – prevention of drug administration errors by cooperation with clinical pharmacists

Hannak, D

Steadiness/stability of antiepileptic drugs in serum, plasma and whole-blood samples under various storage methods

Harting, I

Use of guidelines improves the neurological outcome in glutaric aciduria type I

Hartmann, H

L-2-hydroxyglutaric aciduria: Infantile versus adult late-onset manifestation

Neurological complications following renal transplantation in infants and children: A retrospective single centre study

Hartmann, K

Dronabinol for the treatment of unspecific pain, restlessness and spasticity in neuropaediatrics

Haschemi, M

The concept of modular motor therapy in paediatric neurology

Hasselmann, O

Leigh Syndrome: typical phenotype but atypical mitochondrial mutation – a case report

Haud, N

RNASET2-deficient cystic leukoencephalopathy: a new lysosomal disorder

Häusler, M

Lupus erythematosus and Aicardi-Goutières Syndrome: a continuum of immune mediated diseases

Heales, S

Dopamine transporter defect: Infantile parkinsonism-dystonia with elevated dopamine metabolites in cerebrospinal fluid is genetically resolved

Hechler, T

Quantitative Sensory Testing in children and adolescents with cerebral palsy

Developmental and sex differences of somatosensory perception

Heinen, F

Impaired motor cortex plasticity in patients with Noonan syndrome

Henneke, M

Clinical neurophysiology for differentiation between Pelizaeus-Merzbacher Disease and Pelizaeus-Merzbacher-like Disease

RNASET2-deficient cystic leukoencephalopathy: a new lysosomal disorder

Henschen, M

Is the assessment of general movements helpful for the prediction of the neurodevelopmental outcome in a child with symptomatic congenital CMV infection?

Hentschel, R

Long-term follow up of preterms below 33 weeks of gestation at school age

Henze, G

Impairment of executive functions in pediatric posterior fossa tumor survivors

Heringer, J

Use of guidelines improves the neurological outcome in glutaric aciduria type I

Hermann, E

Neurodevelopmental long-term outcome in VLBW preterm infants born in 2000–2004

Hernáiz Driever, P

Impairment of executive functions in pediatric posterior fossa tumor survivors

Hertzberg, C

Lupus erythematosus and Aicardi-Goutières Syndrome: a continuum of immune mediated diseases

Hessenauer, M

Remi-Pro: a standardized method to document the course of remission and finding of therapeutic goals in children and adolescents after severe acquired brain-lesions

Heyer, C

Muscular hypotonia, joint contractures and elevated creatin kinase level as main symptoms for Congenital muscular dystrophy 1A (MDC 1A/congenital muscular dystrophy with laminin α 2 (merosin) deficiency)

Hiener, U

Intracranial hypertension in a boy with infantile hypophosphatasia requiring shunt installation

Hilbig, K

Ketogenic diet in children with difficult to treat epilepsies – 6 years of clinical experience

Hoche, F

Calpainopathy as differential diagnosis of idiopathic hyperCKemia

Autosomal dominant CMT-Type IB (Charcot-Marie-Tooth Neuropathy) as a differential diagnosis of clinically diagnosed autosomal recessive demyelinating CMT-Type 4E

Dysembryoplastic neuroepithelial tumor (DNET) in a patient with Noonan syndrome

DWI and Proton weighted MRI seems to be a highly sensitive marker of pathological activity in pediatric multiple sclerosis

Hoffmann, GF

Dopamine transporter defect: Infantile parkinsonism-dystonia with elevated dopamine metabolites in cerebrospinal fluid is genetically resolved

Use of guidelines improves the neurological outcome in glutaric aciduria type I

Hofmann-Peters, A

MRI abnormalities associated with Vigabatrin treatment – a longitudinal case study and an atypical case

Autosomal dominant nocturnal frontal lobe epilepsy in mother and daughter treated with an unusual combination of anticonvulsants

Ketogenic diet in children with difficult to treat epilepsies – 6 years of clinical experience

Höger, C

FMR2 gene deletion as a cause of non-specific mental retardation and autistic behavior in two brothers

Holinski-Feder, E

6q13–6q14.1 deletion syndrome characterized by congenital myopathy, mental retardation and minor dysmorphisms – a case report

ARX-mutation – phenotype and clinical course in two brothers with West Syndrome and developmental delay

Holthausen, H

Asymmetrical localisation of the motor cortex after perinatally acquired intracerebral hemorrhage: Volume shift versus neuroplasticity

Hoppe-Tichy, T

Patient safety on a paediatric neurology ward – prevention of drug administration errors by cooperation with clinical pharmacists

Horber, V

Eyelid myoclonia with absences (Jeavons syndrome): An unrecognized generalized epileptic syndrome?

Horváth, R

BARTH SYNDROME with a new mutation without cardial involvement

Leigh Syndrome: typical phenotype but atypical mitochondrial mutation – a case report

Hoy, L

Neurological complications following renal transplantation in infants and children: A retrospective single centre study

Huber-Zeyringer, A

Urodynamic findings by routine preoperative assessment in 46 scoliotic patients

Hübner, A

Case report of a 1-year old girl with β-ureidopropionase deficiency and development of cystic encephalomalacia

Huppke, B

European paediatric patients with neuromyelitis optica: a good prognosis for most and seronegative to NMO-IgG

Huppke, P

European paediatric patients with neuromyelitis optica: a good prognosis for most and seronegative to NMO-IgG

Developmental retardation due to dietary vitamin B12 deficiency during infancy

Hurlstone, A

RNASET2-deficient cystic leukoencephalopathy: a new lysosomal disorder

Husain, R

ADAMTS13 dysfunction and a novel frameshift mutation in the TREX1 gene in a patient with Aicardi-Goutières syndrome

i Dali, C

Metachromatic Leukodystrophy: spatial and temporal pattern of MRI changes and their association with motor deterioration

Illsinger, S

L-2-hydroxyglutaric aciduria: Infantile versus adult late-onset manifestation

Neurological complications following renal transplantation in infants and children: A retrospective single centre study

Innes, M

Lupus erythematosus and Aicardi-Goutières Syndrome: a continuum of immune mediated diseases

Jacobs, J

HFOs (80–450Hz) recorded with standard intracranial electrodes reflect epileptogenicity in children with focal cortical dysplasia

Jakobs, C

L-2-hydroxyglutaric aciduria: Infantile versus adult late-onset manifestation

Jansen, O

EEG-fMRI: Including sleep-induced potentials in the general linear model improves spatial accordance with epileptic focus

Jardine, P

Dopamine transporter defect: Infantile parkinsonism-dystonia with elevated dopamine metabolites in cerebrospinal fluid is genetically resolved

Jeannet, PY

Differences in risk-factors, aetiology and outcome between children and young adults with acute ischaemic stroke

Jenke, ACW

Long-term outcome of Alice-in-Wonderland-Syndrome: Results from a case series of 12 patients

Jung, N

Low-Frequency rTMS selectively modulates inhibitory intracortical networks

Impaired long term potentiation (LTP)-like plasticity in patients with high functiong autism and Asperger syndrome (HFA/AS)

Impaired motor cortex plasticity in patients with Noonan syndrome

Influence of current direction in transcranial magnetic stimulation (TMS) on MEP amplitude and latency – opportunity of I wave specific evaluation and stimulation

Jung, T

Proposal on an evaluation form for the standardized indication of physiotherapy and occupational therapy and scientific application in neonatology

Junker, J

Quantitative Sensory Testing in children and adolescents with cerebral palsy

Kalkan Ucar, S

Towards the genetic defect in MEGDEL syndrome: Four novel patients

Kalmus, U

Globoid cell leukodystrophy (Morbus Krabbe) – Case report with characteristic clinical and imaging features

Kämmerer, F

Neurofibromatosis type 1 and Arnold-Chiari-malformation. An unknown association?

Kammler, G

Blindness due to unrecognized bilateral optic nerve sheath meningioma in a 14-year-old girl (case report)

Kamrath, C

Hypothalamic and pituitary affection after traumatic brain injury in childhood

Karch, D

Evaluation of general movements in infants with an electromagnetic tracking system – first steps towards the discrimination of variability of spontaneous movements

Karlmeier, A

Feasibility of functional MRI in children and adolescents with neurological disorders – the Vogtareuth experience

Kehrer, C

Metachromatic Leukodystrophy: spatial and temporal pattern of MRI changes and their association with motor deterioration

Keimer, R

Helmets or physiotherapy? Natural history and treatment options for non-synostotic skull deformity in children – results of a literature search

Neurofibromatosis type 1 (Recklinghausen's Disease). Who was Friedrich Daniel von Recklinghausen?

Kentouche, K

ADAMTS13 dysfunction and a novel frameshift mutation in the TREX1 gene in a patient with Aicardi-Goutières syndrome

Kerber, K

HFOs (80–450Hz) recorded with standard intracranial electrodes reflect epileptogenicity in children with focal cortical dysplasia

Kessler, S

Feasibility of functional MRI in children and adolescents with neurological disorders – the Vogtareuth experience

Kieslich, M

Calpainopathy as differential diagnosis of idiopathic hyperCKemia

Autosomal dominant CMT-Type IB (Charcot-Marie-Tooth Neuropathy) as a differential diagnosis of clinically diagnosed autosomal recessive demyelinating CMT-Type 4E

De novo deletion 17p13.1 and duplication 17p11.2 in a seven months-old male infant with the clinical features of Potocki-Lupski syndrome

Dysembryoplastic neuroepithelial tumor (DNET) in a patient with Noonan syndrome

Hypothalamic and pituitary affection after traumatic brain injury in childhood

DWI and Proton weighted MRI seems to be a highly sensitive marker of pathological activity in pediatric multiple sclerosis

Kilian, D

High phenotype variability in CLN3 patients with identical genotype

Kim, KS

Evaluation of general movements in infants with an electromagnetic tracking system – first steps towards the discrimination of variability of spontaneous movements

Kirschner, J

Psychiatric symptoms and CK-Elevation as initial manifestations of late-onset Tay-Sachs disease

6q13–6q14.1 deletion syndrome characterized by congenital myopathy, mental retardation and minor dysmorphisms – a case report

Klein, C

Clinical characterization of Dopa-responsive Dystonia in two brothers with homozygous GCH1 mutations and effects of pre-natal levodopa therapy

Klinge, L

Autosomal dominant congenital myopathy with fibre type disproportion due to mutation in the α slow-tropomyosin gene

Kluger, G

Remi-Pro: a standardized method to document the course of remission and finding of therapeutic goals in children and adolescents after severe acquired brain-lesions

Therapy-refractory symptomatic focal epilepsy with methylmalonic aciduria: Case report on positive effect of rufinamide

Kluijtmans, LAJ

Towards the genetic defect in MEGDEL syndrome: Four novel patients

Knöppler, K

From pediatric to adult-orientated care: the „Berliner Transitionsprogramm“

Knuf, M

Postoperative outcome of children with neural tube defects and craniocervical decompression surgery: risk factors with regard to complications and length of hospitalisation

Koch, KA

Neuropathia vestibularis: a differential diagnosis of vertigo

Köhler, B

Neurofibromatosis type 1 (Recklinghausen's Disease). Who was Friedrich Daniel von Recklinghausen?

Köhler, C

BARTH SYNDROME with a new mutation without cardial involvement

Muscular hypotonia, joint contractures and elevated creatin kinase level as main symptoms for Congenital muscular dystrophy 1A (MDC 1A/congenital muscular dystrophy with laminin α 2 (merosin) deficiency)

Köhler, U

Application of Array-based Comparative Genome Hybridization in patients with mental retardation

Kohlhase, J

Lupus erythematosus and Aicardi-Goutières Syndrome: a continuum of immune mediated diseases

Kohlschütter, A

High phenotype variability in CLN3 patients with identical genotype

Identification of potential biomarkers and modifiers of CLN3-disease progression

Blindness due to unrecognized bilateral optic nerve sheath meningioma in a 14-year-old girl (case report)

Kolb, R

Experiences with Laparoscopic Adjustable Gastric banding (LAGB) and Sleeve Gastrectomy (SG) in the treatment of patients with childhood craniopharyngioma and morbid obesity

Kölker, S

Use of guidelines improves the neurological outcome in glutaric aciduria type I

Komini, E

Is the assessment of general movements helpful for the prediction of the neurodevelopmental outcome in a child with symptomatic congenital CMV infection?

Konietzko, A

Language abilities after early left-hemispheric lesions – neural and cognitive compensation

Language abilities after early left-hemispheric lesions – Production and comprehension of complex linguistic structures

König, R

De novo deletion 17p13.1 and duplication 17p11.2 in a seven months-old male infant with the clinical features of Potocki-Lupski syndrome

König, S

Steadiness/stability of antiepileptic drugs in serum, plasma and whole-blood samples under various storage methods

Korenke, CG

Phenotype and long-term follow-up of juvenile Selenoprotein N1-related myopathy (SEPN1-RM)

Korinthenberg, R

Application of Array-based Comparative Genome Hybridization in patients with mental retardation

Psychiatric symptoms and CK-Elevation as initial manifestations of late-onset Tay-Sachs disease

HFOs (80–450Hz) recorded with standard intracranial electrodes reflect epileptogenicity in children with focal cortical dysplasia

Long-term follow up of preterms below 33 weeks of gestation at school age

Korn-Merker, E

Autosomal dominant nocturnal frontal lobe epilepsy in mother and daughter treated with an unusual combination of anticonvulsants

Ketogenic diet in children with difficult to treat epilepsies – 6 years of clinical experience

Köstenberger, M

Presentation of 16 paediatric patients manifesting with stroke during 2006–2010

Kotzaeridou, U

Novel Missence Mutation in the BCS1L Gene as a Cause of mitochondrial encephalopathy with Fanconi Syndrome

Macrocephaly with dilated Virchow-Robin spaces: a new clinical entity?

Koustenis, E

Impairment of executive functions in pediatric posterior fossa tumor survivors

Kraemer, N

The use of Quantitative sensory testing for sensible diabetic neuropathy in children and adults

Quantitative Sensory Testing in children and adolescents with cerebral palsy

Developmental and sex differences of somatosensory perception

Krägeloh-Mann, I

Evaluation of myotonia and therapeutic implications: about a child with myotonia congenita (Becker disease)

Eyelid myoclonia with absences (Jeavons syndrome): An unrecognized generalized epileptic syndrome?

Editorial

Somatosensory system in congenital hemiparesis: clinical assessment and resting state functional connectivity MRI analysis

Metachromatic Leukodystrophy: spatial and temporal pattern of MRI changes and their association with motor deterioration

Language abilities after early left-hemispheric lesions – neural and cognitive compensation

Language abilities after early left-hemispheric lesions – Production and comprehension of complex linguistic structures

Intensive immunmodulatory therapy in a 3 year old child with anti-NMDA-receptor encephalitis

Kranendijk, M

L-2-hydroxyglutaric aciduria: Infantile versus adult late-onset manifestation

Kress, W

Phenotype and long-term follow-up of juvenile Selenoprotein N1-related myopathy (SEPN1-RM)

Krieg, EM

Patient safety on a paediatric neurology ward – prevention of drug administration errors by cooperation with clinical pharmacists

Kruse, B

Blindness due to unrecognized bilateral optic nerve sheath meningioma in a 14-year-old girl (case report)

Kuhlmann, T

CK elevation and progressive toe walking in a 14-year old girl

Kun, N

Patient safety on a paediatric neurology ward – prevention of drug administration errors by cooperation with clinical pharmacists

Kunz, U

Current practice in the management of newborns with spina bifida in Germany

Kurian, MA

Dopamine transporter defect: Infantile parkinsonism-dystonia with elevated dopamine metabolites in cerebrospinal fluid is genetically resolved

Kurlemann, G

Globoid cell leukodystrophy (Morbus Krabbe) – Case report with characteristic clinical and imaging features

Diffusion tensor imaging demonstrates effectiveness of immunotherapy for Rasmussen's encephalitis

CK elevation and progressive toe walking in a 14-year old girl

Narcolepsy in early childhood – a case study with video

First experiences with Lacosamid for treatment of therapy-resistant epilepsy in early childhood

Kutschke, G

Temporary neonatal respiratory disorder – Early-onset-variation of Ondine's curse

Kwiecien, R

Postoperative outcome of children with neural tube defects and craniocervical decompression surgery: risk factors with regard to complications and length of hospitalisation

Lackner, H

Infantile Alexander Disease mimicking multilocular astrocytoma

Latal, B

Cerebral MRI findings in adolescents with congenital heart disease

Laufs, M

Calpainopathy as differential diagnosis of idiopathic hyperCKemia

Autosomal dominant CMT-Type IB (Charcot-Marie-Tooth Neuropathy) as a differential diagnosis of clinically diagnosed autosomal recessive demyelinating CMT-Type 4E

De novo deletion 17p13.1 and duplication 17p11.2 in a seven months-old male infant with the clinical features of Potocki-Lupski syndrome

DWI and Proton weighted MRI seems to be a highly sensitive marker of pathological activity in pediatric multiple sclerosis

Lebrun, AH

Identification of potential biomarkers and modifiers of CLN3-disease progression

Lee-Kirsch, AE

ADAMTS13 dysfunction and a novel frameshift mutation in the TREX1 gene in a patient with Aicardi-Goutières syndrome

Leis, T

Preterm and small-for-gestational age: no risk for an adverse cognitive development?

Leiz, S

Intracranial hypertension in a boy with infantile hypophosphatasia requiring shunt installation

Lengnick, K

Leigh Syndrome: typical phenotype but atypical mitochondrial mutation – a case report

Letzgus, A

Psychiatric symptoms and CK-Elevation as initial manifestations of late-onset Tay-Sachs disease

LeVan, P

HFOs (80–450Hz) recorded with standard intracranial electrodes reflect epileptogenicity in children with focal cortical dysplasia

Dynamic analysis of absence seizures in humans: all the same but all different

Lewis, T

Dopamine transporter defect: Infantile parkinsonism-dystonia with elevated dopamine metabolites in cerebrospinal fluid is genetically resolved

Lidzba, K

Language abilities after early left-hemispheric lesions – neural and cognitive compensation

Language abilities after early left-hemispheric lesions – Production and comprehension of complex linguistic structures

Lindbichler, F

Presentation of 16 paediatric patients manifesting with stroke during 2006–2010

Linder-Lucht, M

Application of Array-based Comparative Genome Hybridization in patients with mental retardation

Lorenz, I

Reflex epilepsy in demyelinating encephalopathy – a case report

Lücke, T

L-2-hydroxyglutaric aciduria: Infantile versus adult late-onset manifestation

BARTH SYNDROME with a new mutation without cardial involvement

Muscular hypotonia, joint contractures and elevated creatin kinase level as main symptoms for Congenital muscular dystrophy 1A (MDC 1A/congenital muscular dystrophy with laminin α 2 (merosin) deficiency)

MRI abnormalities associated with Vigabatrin treatment – a longitudinal case study and an atypical case

Use of guidelines improves the neurological outcome in glutaric aciduria type I

Neurological complications following renal transplantation in infants and children: A retrospective single centre study

Lütjen, S

Remi-Pro: a standardized method to document the course of remission and finding of therapeutic goals in children and adolescents after severe acquired brain-lesions

Lütschg, J

Phenotype and long-term follow-up of juvenile Selenoprotein N1-related myopathy (SEPN1-RM)

Mader, S

Acute blindness – a case report of Neuromyelitis Optica (Devic Syndrome) in adolescence

Maher, E

Dopamine transporter defect: Infantile parkinsonism-dystonia with elevated dopamine metabolites in cerebrospinal fluid is genetically resolved

Maier, EM

Use of guidelines improves the neurological outcome in glutaric aciduria type I

Mainberger, F

Low-Frequency rTMS selectively modulates inhibitory intracortical networks

Impaired long term potentiation (LTP)-like plasticity in patients with high functiong autism and Asperger syndrome (HFA/AS)

Impaired motor cortex plasticity in patients with Noonan syndrome

Mall, V

Psychiatric symptoms and CK-Elevation as initial manifestations of late-onset Tay-Sachs disease

Low-Frequency rTMS selectively modulates inhibitory intracortical networks

Impaired long term potentiation (LTP)-like plasticity in patients with high functiong autism and Asperger syndrome (HFA/AS)

Impaired motor cortex plasticity in patients with Noonan syndrome

Influence of current direction in transcranial magnetic stimulation (TMS) on MEP amplitude and latency – opportunity of I wave specific evaluation and stimulation

Maroske, J

Experiences with Laparoscopic Adjustable Gastric banding (LAGB) and Sleeve Gastrectomy (SG) in the treatment of patients with childhood craniopharyngioma and morbid obesity

Marquard, K

Helmets or physiotherapy? Natural history and treatment options for non-synostotic skull deformity in children – results of a literature search

Mattes, D

Acute blindness – a case report of Neuromyelitis Optica (Devic Syndrome) in adolescence

Mattle, HP

Differences in risk-factors, aetiology and outcome between children and young adults with acute ischaemic stroke

Mauer, UM

Current practice in the management of newborns with spina bifida in Germany

Mautner, VF

Growth hormone treatment of patients with neurofibromatosis type 1

Mayatepek, E

Dopamine transporter defect: Infantile parkinsonism-dystonia with elevated dopamine metabolites in cerebrospinal fluid is genetically resolved

Optic pathway gliomas in children with neurofibromatosis type 1: a long term study in 38 patients

Mayr, J

Leigh Syndrome: typical phenotype but atypical mitochondrial mutation – a case report

Merkel, HJ

Steadiness/stability of antiepileptic drugs in serum, plasma and whole-blood samples under various storage methods

Meyer, D

Developmental and sex differences of somatosensory perception

Meyer, S

Neonatal hypotonia with burst suppression pattern reveals non ketotic hyperglycinemia associated with P-protein deficiency

The role of EEG in monitoring cerebral dysfunction before and after cardiac surgery in children congenital heart disease

Mildenberger, E

Temporary neonatal respiratory disorder – Early-onset-variation of Ondine's curse

Proposal on an evaluation form for the standardized indication of physiotherapy and occupational therapy and scientific application in neonatology

Moeller, F

Dynamic analysis of absence seizures in humans: all the same but all different

Moers, A von

From pediatric to adult-orientated care: the „Berliner Transitionsprogramm“

Dopamine transporter defect: Infantile parkinsonism-dystonia with elevated dopamine metabolites in cerebrospinal fluid is genetically resolved

Mohr, A

Polymicrogyria in Fetal Alcohol Syndrome

Möhring, J

EEG-fMRI: Including sleep-induced potentials in the general linear model improves spatial accordance with epileptic focus

Mole, SE

Identification of potential biomarkers and modifiers of CLN3-disease progression

Möller, F

EEG-fMRI: Including sleep-induced potentials in the general linear model improves spatial accordance with epileptic focus

Möller-Hartmann, C

ARX-mutation – phenotype and clinical course in two brothers with West Syndrome and developmental delay

Moll-Khosrawi, P

High phenotype variability in CLN3 patients with identical genotype

Morava, E

Towards the genetic defect in MEGDEL syndrome: Four novel patients

Mordekar, S

Dopamine transporter defect: Infantile parkinsonism-dystonia with elevated dopamine metabolites in cerebrospinal fluid is genetically resolved

Muhle, H

Dynamic analysis of absence seizures in humans: all the same but all different

Mühlhausen, C

Use of guidelines improves the neurological outcome in glutaric aciduria type I

Müller, B

From pediatric to adult-orientated care: the „Berliner Transitionsprogramm“

Müller, HL

Experiences with Laparoscopic Adjustable Gastric banding (LAGB) and Sleeve Gastrectomy (SG) in the treatment of patients with childhood craniopharyngioma and morbid obesity

Impaired satiety regulation in obese patients with craniopharyngioma

Müller, K

Diffusion tensor imaging demonstrates effectiveness of immunotherapy for Rasmussen's encephalitis

„Fixed dystonia“ syndrome after peripheral trauma in two adolescent girls

The concept of modular motor therapy in paediatric neurology

Müller-Schlüter, K

From pediatric to adult-orientated care: the „Berliner Transitionsprogramm“

Müller-Wielsch, K

Developmental retardation due to dietary vitamin B12 deficiency during infancy

Münchau, A

Impaired long term potentiation (LTP)-like plasticity in patients with high functiong autism and Asperger syndrome (HFA/AS)

Munteanu, M

ARX-mutation – phenotype and clinical course in two brothers with West Syndrome and developmental delay

Mürle, B

Macrocephaly with dilated Virchow-Robin spaces: a new clinical entity?

Müther, S

From pediatric to adult-orientated care: the „Berliner Transitionsprogramm“

Muyimbwa, J

Neurological complications following renal transplantation in infants and children: A retrospective single centre study

Nagel, A

Specific motion patterns of the sagittal, frontal and transversal plane in children with bilateral spastic cerebral palsy: Preliminary results of a cross-sectional study

Robotic-assisted gait training improves gait parameters and functional mobility in patients wit cerebral palsy – preliminary results of a longitudinal study

Nagel, C

Growth hormone treatment of patients with neurofibromatosis type 1

Nedeltchev, K

Differences in risk-factors, aetiology and outcome between children and young adults with acute ischaemic stroke

Neubauer, BA

Singultus as main seizure type in a patient with primary generalized epilepsy

Neuhausen, P

Proposal on an evaluation form for the standardized indication of physiotherapy and occupational therapy and scientific application in neonatology

Niemann, F

Lupus erythematosus and Aicardi-Goutières Syndrome: a continuum of immune mediated diseases

Niggemann, P

Lupus erythematosus and Aicardi-Goutières Syndrome: a continuum of immune mediated diseases

Nögel, SC

Neurodevelopmental long-term outcome in VLBW preterm infants born in 2000–2004

Preterm and small-for-gestational age: no risk for an adverse cognitive development?

Noll, D

L-2-hydroxyglutaric aciduria: Infantile versus adult late-onset manifestation

Nolting, HD

From pediatric to adult-orientated care: the „Berliner Transitionsprogramm“

Northam, G

Microstructural alterations of motor pathways in adolescents born preterm

Omran, H

Application of Array-based Comparative Genome Hybridization in patients with mental retardation

Ortfeld, S

Intravenous Lacosamid in refractory convulsive status epilepticus

Ottensmeier, H

A new concept for the neuropsychological testing in very and extreme prematures at the age of more than 5 years

Pape, L

Neurological complications following renal transplantation in infants and children: A retrospective single centre study

Pauen, S

Visual attention performance in term born and preterm infants with different perinatal risk

Pechmann, A

Impaired motor cortex plasticity in patients with Noonan syndrome

Influence of current direction in transcranial magnetic stimulation (TMS) on MEP amplitude and latency – opportunity of I wave specific evaluation and stimulation

Pelz, S

Constraint-induced movement therapy (CIMT) for hemiparetic children in comparison to bimanual treatment – what is (more) effective?

Penzien, J

Improvement of SSPE after carbamazepine: natural course or therapeutic effect?

Peraud, A

Intracranial hypertension in a boy with infantile hypophosphatasia requiring shunt installation

Pfurtscheller, K

Presentation of 16 paediatric patients manifesting with stroke during 2006–2010

Philippi, H

Evaluation of general movements in infants with an electromagnetic tracking system – first steps towards the discrimination of variability of spontaneous movements

Pietz, J

Validation of a parent questionnaire on cognitive development in preterm born infants at the (corrected) age of two years

Correlations between early stress experiences and later behavior regulation in premature born toddlers with low and very low birth weight at the age of two years

Visual attention performance in term born and preterm infants with different perinatal risk

Evaluation of general movements in infants with an electromagnetic tracking system – first steps towards the discrimination of variability of spontaneous movements

Macrocephaly with dilated Virchow-Robin spaces: a new clinical entity?

Pilhatsch, A

Infantile Alexander Disease mimicking multilocular astrocytoma

Piroth, W

MRI in children with epilepsy and hydrocephalus – the clinical relevance of improved techniques

Pittner, M

Blindness due to unrecognized bilateral optic nerve sheath meningioma in a 14-year-old girl (case report)

Plecko, B

Acute blindness – a case report of Neuromyelitis Optica (Devic Syndrome) in adolescence

First manifestation and clinical course of eleven paediatric patients with Multiple Sclerosis assigned to the University Hospital of Children and Adolescents of the Medical University Graz from 2001 to 2009

Infantile Alexander Disease mimicking multilocular astrocytoma

Presentation of 16 paediatric patients manifesting with stroke during 2006–2010

Plecko-Startinig, B

Clinical neurophysiology for differentiation between Pelizaeus-Merzbacher Disease and Pelizaeus-Merzbacher-like Disease

Plümpe, N

Neurofibromatosis type 1 and Arnold-Chiari-malformation. An unknown association?

Pohl, S

Identification of potential biomarkers and modifiers of CLN3-disease progression

Polster, T

MRI abnormalities associated with Vigabatrin treatment – a longitudinal case study and an atypical case

Porto, L

Promising treatment in a boy with creatine transporter deficiency

Hypothalamic and pituitary affection after traumatic brain injury in childhood

DWI and Proton weighted MRI seems to be a highly sensitive marker of pathological activity in pediatric multiple sclerosis

Pykal, U

Proposal on an evaluation form for the standardized indication of physiotherapy and occupational therapy and scientific application in neonatology

Qirshi, M

Autosomal dominant CMT-Type IB (Charcot-Marie-Tooth Neuropathy) as a differential diagnosis of clinically diagnosed autosomal recessive demyelinating CMT-Type 4E

Dysembryoplastic neuroepithelial tumor (DNET) in a patient with Noonan syndrome

DWI and Proton weighted MRI seems to be a highly sensitive marker of pathological activity in pediatric multiple sclerosis

Bimanual mirror movements in a patient with Kallmann Syndrome

Radkow, T

Reflex epilepsy in demyelinating encephalopathy – a case report

Ramantani, G

Lupus erythematosus and Aicardi-Goutières Syndrome: a continuum of immune mediated diseases

ADAMTS13 dysfunction and a novel frameshift mutation in the TREX1 gene in a patient with Aicardi-Goutières syndrome

Functional hemispherotomy for refractory epilepsy in pediatric patients: the right person at the right time

Rapp, EM

Is the assessment of general movements helpful for the prediction of the neurodevelopmental outcome in a child with symptomatic congenital CMV infection?

Rauh, R

Impaired long term potentiation (LTP)-like plasticity in patients with high functiong autism and Asperger syndrome (HFA/AS)

Reihle, C

Helmets or physiotherapy? Natural history and treatment options for non-synostotic skull deformity in children – results of a literature search

Reindl, M

Acute blindness – a case report of Neuromyelitis Optica (Devic Syndrome) in adolescence

Reinhardt, K

European paediatric patients with neuromyelitis optica: a good prognosis for most and seronegative to NMO-IgG

Polymicrogyria in Fetal Alcohol Syndrome

Reitter, B

Proposal on an evaluation form for the standardized indication of physiotherapy and occupational therapy and scientific application in neonatology

Reitter, M

Proposal on an evaluation form for the standardized indication of physiotherapy and occupational therapy and scientific application in neonatology

Reulecke, B

Pontine tegmental cap dysplasia: case report of a „new“ disorder with associated cortical malformation

Reuner, G

Validation of a parent questionnaire on cognitive development in preterm born infants at the (corrected) age of two years

Correlations between early stress experiences and later behavior regulation in premature born toddlers with low and very low birth weight at the age of two years

Visual attention performance in term born and preterm infants with different perinatal risk

Reuner, U

Phenotype and long-term follow-up of juvenile Selenoprotein N1-related myopathy (SEPN1-RM)

Reutlinger, C

Intravenous Lacosamid in refractory convulsive status epilepticus

Rhein, M von

Proposal on an evaluation form for the standardized indication of physiotherapy and occupational therapy and scientific application in neonatology

Postoperative outcome of children with neural tube defects and craniocervical decompression surgery: risk factors with regard to complications and length of hospitalisation

Cerebral MRI findings in adolescents with congenital heart disease

Richard, P

Phenotype and long-term follow-up of juvenile Selenoprotein N1-related myopathy (SEPN1-RM)

Rodenburg, RJT

Towards the genetic defect in MEGDEL syndrome: Four novel patients

Rödl, S

Presentation of 16 paediatric patients manifesting with stroke during 2006–2010

Roland-Schäfer, D

Evaluation of myotonia and therapeutic implications: about a child with myotonia congenita (Becker disease)

Romein, E

Remi-Pro: a standardized method to document the course of remission and finding of therapeutic goals in children and adolescents after severe acquired brain-lesions

Rosenbaum, T

Do hormonal therapies stimulate neurofibroma growth?

Neurofibromatosis type 1 and Arnold-Chiari-malformation. An unknown association?

The plexiform neurofibroma is an important differential diagnosis of congenital facial swelling

Optic pathway gliomas in children with neurofibromatosis type 1: a long term study in 38 patients

Roth, C

Impaired satiety regulation in obese patients with craniopharyngioma

Rueckriegel, SM

Impairment of executive functions in pediatric posterior fossa tumor survivors

Ruf, S

Eyelid myoclonia with absences (Jeavons syndrome): An unrecognized generalized epileptic syndrome?

Salomons, G

L-2-hydroxyglutaric aciduria: Infantile versus adult late-onset manifestation

Infantile Alexander Disease mimicking multilocular astrocytoma

Sanchez-Albisua, I

Evaluation of myotonia and therapeutic implications: about a child with myotonia congenita (Becker disease)

Sanger, T

Dopamine transporter defect: Infantile parkinsonism-dystonia with elevated dopamine metabolites in cerebrospinal fluid is genetically resolved

Saraph, V

Urodynamic findings by routine preoperative assessment in 46 scoliotic patients

Sass, JO

Laboratory diagnostics of Canavan Disease using EBV-transformed lymphocytes

Schallner, J

Case report of a 1-year old girl with β-ureidopropionase deficiency and development of cystic encephalomalacia

Schara, U

ARX-mutation – phenotype and clinical course in two brothers with West Syndrome and developmental delay

Phenotype and long-term follow-up of juvenile Selenoprotein N1-related myopathy (SEPN1-RM)

Towards the genetic defect in MEGDEL syndrome: Four novel patients

Scharbert, F

Steadiness/stability of antiepileptic drugs in serum, plasma and whole-blood samples under various storage methods

Scheer, I

Cerebral MRI findings in adolescents with congenital heart disease

Scheffner, T

Intensive immunmodulatory therapy in a 3 year old child with anti-NMDA-receptor encephalitis

Schimmel, M

Improvement of SSPE after carbamazepine: natural course or therapeutic effect?

Schlunz-Hendann, M

The plexiform neurofibroma is an important differential diagnosis of congenital facial swelling

Schmidt, J

Autosomal dominant congenital myopathy with fibre type disproportion due to mutation in the α slow-tropomyosin gene

Schneider, S

Clinical characterization of Dopa-responsive Dystonia in two brothers with homozygous GCH1 mutations and effects of pre-natal levodopa therapy

Schoser, B

Leigh Syndrome: typical phenotype but atypical mitochondrial mutation – a case report

Schrader, C

L-2-hydroxyglutaric aciduria: Infantile versus adult late-onset manifestation

Schreiber, G

Phenotype and long-term follow-up of juvenile Selenoprotein N1-related myopathy (SEPN1-RM)

Schröder, S

Experiences with Laparoscopic Adjustable Gastric banding (LAGB) and Sleeve Gastrectomy (SG) in the treatment of patients with childhood craniopharyngioma and morbid obesity

Impaired satiety regulation in obese patients with craniopharyngioma

Schubert, S

Functional hemispherotomy for refractory epilepsy in pediatric patients: the right person at the right time

Schulz, A

High phenotype variability in CLN3 patients with identical genotype

Identification of potential biomarkers and modifiers of CLN3-disease progression

Blindness due to unrecognized bilateral optic nerve sheath meningioma in a 14-year-old girl (case report)

Schulze-Bonhage, A

Functional hemispherotomy for refractory epilepsy in pediatric patients: the right person at the right time

HFOs (80–450Hz) recorded with standard intracranial electrodes reflect epileptogenicity in children with focal cortical dysplasia

Schwartz, O

Globoid cell leukodystrophy (Morbus Krabbe) – Case report with characteristic clinical and imaging features

CK elevation and progressive toe walking in a 14-year old girl

Narcolepsy in early childhood – a case study with video

First experiences with Lacosamid for treatment of therapy-resistant epilepsy in early childhood

Schwarz, M

Postoperative outcome of children with neural tube defects and craniocervical decompression surgery: risk factors with regard to complications and length of hospitalisation

Schwarze, CP

Growth hormone treatment of patients with neurofibromatosis type 1

Schwerin-Nagel, A

Acute blindness – a case report of Neuromyelitis Optica (Devic Syndrome) in adolescence

Schwilling, E

Language abilities after early left-hemispheric lesions – neural and cognitive compensation

Language abilities after early left-hemispheric lesions – Production and comprehension of complex linguistic structures

Schwindt, W

Globoid cell leukodystrophy (Morbus Krabbe) – Case report with characteristic clinical and imaging features

Diffusion tensor imaging demonstrates effectiveness of immunotherapy for Rasmussen's encephalitis

CK elevation and progressive toe walking in a 14-year old girl

Seitz, A

Macrocephaly with dilated Virchow-Robin spaces: a new clinical entity?

Selter, M

Autosomal dominant CMT-Type IB (Charcot-Marie-Tooth Neuropathy) as a differential diagnosis of clinically diagnosed autosomal recessive demyelinating CMT-Type 4E

Dysembryoplastic neuroepithelial tumor (DNET) in a patient with Noonan syndrome

Shamdeen, G

The role of EEG in monitoring cerebral dysfunction before and after cardiac surgery in children congenital heart disease

Shatat, M

The role of EEG in monitoring cerebral dysfunction before and after cardiac surgery in children congenital heart disease

Shazi, N

Steadiness/stability of antiepileptic drugs in serum, plasma and whole-blood samples under various storage methods

Shermin-Levine, S

Dopamine transporter defect: Infantile parkinsonism-dystonia with elevated dopamine metabolites in cerebrospinal fluid is genetically resolved

Shoukier, M

FMR2 gene deletion as a cause of non-specific mental retardation and autistic behavior in two brothers

Simbrunner, J

Infantile Alexander Disease mimicking multilocular astrocytoma

Siniatchkin, M

Dynamic analysis of absence seizures in humans: all the same but all different

EEG-fMRI: Including sleep-induced potentials in the general linear model improves spatial accordance with epileptic focus

Skrabl-Baumgartner, A

Acute blindness – a case report of Neuromyelitis Optica (Devic Syndrome) in adolescence

Smeitink, JAM

Towards the genetic defect in MEGDEL syndrome: Four novel patients

Smitka, M

Case report of a 1-year old girl with β-ureidopropionase deficiency and development of cystic encephalomalacia

Sommer, A

Laboratory diagnostics of Canavan Disease using EBV-transformed lymphocytes

Sorantin, E

First manifestation and clinical course of eleven paediatric patients with Multiple Sclerosis assigned to the University Hospital of Children and Adolescents of the Medical University Graz from 2001 to 2009

Presentation of 16 paediatric patients manifesting with stroke during 2006–2010

Sörensen, N

Experiences with Laparoscopic Adjustable Gastric banding (LAGB) and Sleeve Gastrectomy (SG) in the treatment of patients with childhood craniopharyngioma and morbid obesity

Sperner, J

Three Children with Alpers' syndrome 2007–2010

Clinical characterization of Dopa-responsive Dystonia in two brothers with homozygous GCH1 mutations and effects of pre-natal levodopa therapy

Spiegler, J

Three Children with Alpers' syndrome 2007–2010

Clinical characterization of Dopa-responsive Dystonia in two brothers with homozygous GCH1 mutations and effects of pre-natal levodopa therapy

Intravenous Lacosamid in refractory convulsive status epilepticus

Spohr, HL

Polymicrogyria in Fetal Alcohol Syndrome

Sprinz, A

Specific motion patterns of the sagittal, frontal and transversal plane in children with bilateral spastic cerebral palsy: Preliminary results of a cross-sectional study

Robotic-assisted gait training improves gait parameters and functional mobility in patients wit cerebral palsy – preliminary results of a longitudinal study

Stark, W

European paediatric patients with neuromyelitis optica: a good prognosis for most and seronegative to NMO-IgG

Staudt, M

Remi-Pro: a standardized method to document the course of remission and finding of therapeutic goals in children and adolescents after severe acquired brain-lesions

Somatosensory system in congenital hemiparesis: clinical assessment and resting state functional connectivity MRI analysis

Feasibility of functional MRI in children and adolescents with neurological disorders – the Vogtareuth experience

Asymmetrical localisation of the motor cortex after perinatally acquired intracerebral hemorrhage: Volume shift versus neuroplasticity

Steinfeld, R

Clinical signs and treatment of cerebral folate transport deficiency, a novel inherited disorder of folate metabolism

Steinlin, M

Differences in risk-factors, aetiology and outcome between children and young adults with acute ischaemic stroke

Stemmler, M

Neurodevelopmental long-term outcome in VLBW preterm infants born in 2000–2004

Stephani, U

Functional hemispherotomy for refractory epilepsy in pediatric patients: the right person at the right time

Dynamic analysis of absence seizures in humans: all the same but all different

EEG-fMRI: Including sleep-induced potentials in the general linear model improves spatial accordance with epileptic focus

Sterl, E

Urodynamic findings by routine preoperative assessment in 46 scoliotic patients

Stettner, GM

FMR2 gene deletion as a cause of non-specific mental retardation and autistic behavior in two brothers

Stoetter, M

Phenotype and long-term follow-up of juvenile Selenoprotein N1-related myopathy (SEPN1-RM)

Storch, S

Identification of potential biomarkers and modifiers of CLN3-disease progression

Storm van's Gravesande, K

Application of Array-based Comparative Genome Hybridization in patients with mental retardation

Stötter, M

Evaluation of myotonia and therapeutic implications: about a child with myotonia congenita (Becker disease)

Strassburg, HM

A new concept for the neuropsychological testing in very and extreme prematures at the age of more than 5 years

Streibert, PF

MRI in children with epilepsy and hydrocephalus – the clinical relevance of improved techniques

Streichert, T

Identification of potential biomarkers and modifiers of CLN3-disease progression

Ströbele, H

A new concept for the neuropsychological testing in very and extreme prematures at the age of more than 5 years

Strobl, K

Functional hemispherotomy for refractory epilepsy in pediatric patients: the right person at the right time

Strohbusch, M

Psychiatric symptoms and CK-Elevation as initial manifestations of late-onset Tay-Sachs disease

Stülpnagel, C von

Lupus erythematosus and Aicardi-Goutières Syndrome: a continuum of immune mediated diseases

Therapy-refractory symptomatic focal epilepsy with methylmalonic aciduria: Case report on positive effect of rufinamide

Tacke, U

Lupus erythematosus and Aicardi-Goutières Syndrome: a continuum of immune mediated diseases

Long-term follow up of preterms below 33 weeks of gestation at school age

Tamaru, A

Postoperative outcome of children with neural tube defects and craniocervical decompression surgery: risk factors with regard to complications and length of hospitalisation

Thiels, C

BARTH SYNDROME with a new mutation without cardial involvement

Muscular hypotonia, joint contractures and elevated creatin kinase level as main symptoms for Congenital muscular dystrophy 1A (MDC 1A/congenital muscular dystrophy with laminin α 2 (merosin) deficiency)

MRI abnormalities associated with Vigabatrin treatment – a longitudinal case study and an atypical case

Thimm, A

Optic pathway gliomas in children with neurofibromatosis type 1: a long term study in 38 patients

Thomas, K

Lupus erythematosus and Aicardi-Goutières Syndrome: a continuum of immune mediated diseases

Thümmler, K

Constraint-induced movement therapy (CIMT) for hemiparetic children in comparison to bimanual treatment – what is (more) effective?

Thyen, U

Intravenous Lacosamid in refractory convulsive status epilepticus

Tournier, JD

Microstructural alterations of motor pathways in adolescents born preterm

Trollmann, R

Reflex epilepsy in demyelinating encephalopathy – a case report

Neurodevelopmental long-term outcome in VLBW preterm infants born in 2000–2004

Preterm and small-for-gestational age: no risk for an adverse cognitive development?

Ullrich, K

Identification of potential biomarkers and modifiers of CLN3-disease progression

Ungerath, K

Lupus erythematosus and Aicardi-Goutières Syndrome: a continuum of immune mediated diseases

Urban, C

Infantile Alexander Disease mimicking multilocular astrocytoma

Valsangiacomo, E

Cerebral MRI findings in adolescents with congenital heart disease

van der Knaap, M

Infantile Alexander Disease mimicking multilocular astrocytoma

Vianey-Saban Saban, C

Neonatal hypotonia with burst suppression pattern reveals non ketotic hyperglycinemia associated with P-protein deficiency

Vlaho, S

Promising treatment in a boy with creatine transporter deficiency

Calpainopathy as differential diagnosis of idiopathic hyperCKemia

Autosomal dominant CMT-Type IB (Charcot-Marie-Tooth Neuropathy) as a differential diagnosis of clinically diagnosed autosomal recessive demyelinating CMT-Type 4E

De novo deletion 17p13.1 and duplication 17p11.2 in a seven months-old male infant with the clinical features of Potocki-Lupski syndrome

Dysembryoplastic neuroepithelial tumor (DNET) in a patient with Noonan syndrome

Hypothalamic and pituitary affection after traumatic brain injury in childhood

DWI and Proton weighted MRI seems to be a highly sensitive marker of pathological activity in pediatric multiple sclerosis

Voigt, B

Validation of a parent questionnaire on cognitive development in preterm born infants at the (corrected) age of two years

Correlations between early stress experiences and later behavior regulation in premature born toddlers with low and very low birth weight at the age of two years

Vollmer, B

Microstructural alterations of motor pathways in adolescents born preterm

Vorgerd, M

Muscular hypotonia, joint contractures and elevated creatin kinase level as main symptoms for Congenital muscular dystrophy 1A (MDC 1A/congenital muscular dystrophy with laminin α 2 (merosin) deficiency)

Vry, J

6q13–6q14.1 deletion syndrome characterized by congenital myopathy, mental retardation and minor dysmorphisms – a case report

Wagner, A

Long-term outcome of Alice-in-Wonderland-Syndrome: Results from a case series of 12 patients

Walkenhorst, H

Lupus erythematosus and Aicardi-Goutières Syndrome: a continuum of immune mediated diseases

Walsh, S

Pontine tegmental cap dysplasia: case report of a „new“ disorder with associated cortical malformation

Walter, M

Laboratory diagnostics of Canavan Disease using EBV-transformed lymphocytes

Weber, K

Asymmetrical localisation of the motor cortex after perinatally acquired intracerebral hemorrhage: Volume shift versus neuroplasticity

Wehrli, E

Differences in risk-factors, aetiology and outcome between children and young adults with acute ischaemic stroke

Weigt-Usinger, K

BARTH SYNDROME with a new mutation without cardial involvement

Muscular hypotonia, joint contractures and elevated creatin kinase level as main symptoms for Congenital muscular dystrophy 1A (MDC 1A/congenital muscular dystrophy with laminin α 2 (merosin) deficiency)

Weise, S

MRI abnormalities associated with Vigabatrin treatment – a longitudinal case study and an atypical case

Weiss, D

Pontine tegmental cap dysplasia: case report of a „new“ disorder with associated cortical malformation

Weissert, M

Leigh Syndrome: typical phenotype but atypical mitochondrial mutation – a case report

Weitkämper, A

BARTH SYNDROME with a new mutation without cardial involvement

Wenzel, D

Reflex epilepsy in demyelinating encephalopathy – a case report

Neurodevelopmental long-term outcome in VLBW preterm infants born in 2000–2004

Preterm and small-for-gestational age: no risk for an adverse cognitive development?

Weschke, B

Clinical neurophysiology for differentiation between Pelizaeus-Merzbacher Disease and Pelizaeus-Merzbacher-like Disease

Wessel, V

Experiences with Laparoscopic Adjustable Gastric banding (LAGB) and Sleeve Gastrectomy (SG) in the treatment of patients with childhood craniopharyngioma and morbid obesity

Westhoff, B

„Fixed dystonia“ syndrome after peripheral trauma in two adolescent girls

Wevers, RA

Towards the genetic defect in MEGDEL syndrome: Four novel patients

Wiegand, C

Experiences with Laparoscopic Adjustable Gastric banding (LAGB) and Sleeve Gastrectomy (SG) in the treatment of patients with childhood craniopharyngioma and morbid obesity

Wiegand, G

Functional hemispherotomy for refractory epilepsy in pediatric patients: the right person at the right time

Wiesel, T

The use of Quantitative sensory testing for sensible diabetic neuropathy in children and adults

Wilichowski, E

Autosomal dominant congenital myopathy with fibre type disproportion due to mutation in the α slow-tropomyosin gene

Wilke, M

Somatosensory system in congenital hemiparesis: clinical assessment and resting state functional connectivity MRI analysis

Metachromatic Leukodystrophy: spatial and temporal pattern of MRI changes and their association with motor deterioration

Feasibility of functional MRI in children and adolescents with neurological disorders – the Vogtareuth experience

Willichowski, E

Phenotype and long-term follow-up of juvenile Selenoprotein N1-related myopathy (SEPN1-RM)

Wimmer, K

Neurofibromatosis type 1 and Arnold-Chiari-malformation. An unknown association?

Winkler, S

Language abilities after early left-hemispheric lesions – neural and cognitive compensation

Language abilities after early left-hemispheric lesions – Production and comprehension of complex linguistic structures

Wittke, A

Visual attention performance in term born and preterm infants with different perinatal risk

Wochner, K

Evaluation of general movements in infants with an electromagnetic tracking system – first steps towards the discrimination of variability of spontaneous movements

Woermann, G

MRI abnormalities associated with Vigabatrin treatment – a longitudinal case study and an atypical case

Wolf, A

L-2-hydroxyglutaric aciduria: Infantile versus adult late-onset manifestation

Wolff, M

Eyelid myoclonia with absences (Jeavons syndrome): An unrecognized generalized epileptic syndrome?

Intensive immunmodulatory therapy in a 3 year old child with anti-NMDA-receptor encephalitis

Wolff, S

EEG-fMRI: Including sleep-induced potentials in the general linear model improves spatial accordance with epileptic focus

Wortmann, SB

Towards the genetic defect in MEGDEL syndrome: Four novel patients

Wraige, E

Dopamine transporter defect: Infantile parkinsonism-dystonia with elevated dopamine metabolites in cerebrospinal fluid is genetically resolved

Wyatt, J

Microstructural alterations of motor pathways in adolescents born preterm

Zenker, M

Impaired motor cortex plasticity in patients with Noonan syndrome

Zentner, J

Functional hemispherotomy for refractory epilepsy in pediatric patients: the right person at the right time

Zernikow, B

The use of Quantitative sensory testing for sensible diabetic neuropathy in children and adults

Quantitative Sensory Testing in children and adolescents with cerebral palsy

Developmental and sex differences of somatosensory perception

Zeumer, H

Blindness due to unrecognized bilateral optic nerve sheath meningioma in a 14-year-old girl (case report)

Zielen, S

Dysembryoplastic neuroepithelial tumor (DNET) in a patient with Noonan syndrome

Zobel, G

Presentation of 16 paediatric patients manifesting with stroke during 2006–2010

Zschocke, J

Use of guidelines improves the neurological outcome in glutaric aciduria type I

Zsoter, A

Feasibility of functional MRI in children and adolescents with neurological disorders – the Vogtareuth experience