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Parenting stress in families of children with disabilities: Impact of type of disability and assessment of attending paediatricians

Child : care, health & development, 2024-01, Vol.50 (1), p.e13193-n/a

2024

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Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients

Movement disorders, 2023-06, Vol.38 (6), p.1109-1112

2023

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The constitutional gain‐of‐function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome

Clinical genetics, 2023-02, Vol.103 (2), p.226-230

2023

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Hemiplegic Migraine in Glut1 Deficiency Syndrome and Paroxysmal Dyskinesia at Ketogenic Diet Induction: Case Report and Literature Review

Movement disorders clinical practice (Hoboken, N.J.), 2020-11, Vol.7 (8), p.965-970

2020

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De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

European journal of human genetics : EJHG, 2018-06, Vol.26 (11), p.1623-1634

2018

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Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis

Frontiers in genetics, 2023-12, Vol.14, p.1297754

2023

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Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Orphanet journal of rare diseases, 2013-03, Vol.8 (1), p.41-41

2013

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Still an Unsolved Question: The Place of Cranial Magnetic Resonance Imaging in Acute Acquired Concomitant Esotropia

Children (Basel), 2024-05, Vol.11 (5), p.519

2024

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Focal Seizures and Posterior Reversible Encephalopathy Syndrome as Presenting Signs of IgA Vasculitis/Henoch-Schoenlein Purpura—An Educative Case and Systematic Review of the Literature

Frontiers in neurology, 2021-11, Vol.12, p.759386

2021

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The Impact of Demographic Characteristics on Parenting Stress among Parents of Children with Disabilities: A Cross-Sectional Study

Children (Basel), 2024-02, Vol.11 (2), p.239

2024

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Cerebrospinal Fluid Protein Concentrations in Hydrocephalus

Children (Basel), 2023-03, Vol.10 (4), p.644

2023

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Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

Neurology, 2014-11, Vol.83 (21), p.1898-1905

2014

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Akute neurologische Notfälle im Kindesalter

Notfallmedizin up2date, 2020-12, Vol.15 (4), p.421-437

2020

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Ungewöhnliche Lokalisation eines Borrelien-Lymphozytoms

Klinische Monatsblätter für Augenheilkunde, 2021-12

2021

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Epilepsien im Säuglingsalter: Eine Übersicht über Ursachen, Differenzialdiagnosen und Diagnostik

Kinder- und Jugendmedizin, 2021-06, Vol.21 (3), p.193-199

2021

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The “Ivy-Sign” in Moyamoya Disease—From MRI Pattern to Diagnosis

Neuropediatrics, 2020-08, Vol.51 (4), p.241-244

2020

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Fokale Krampfanfälle und Posteriores Reversibles Enzephalopathie-Syndrom (PRES) als Erstmanifestation einer IgA-Vaskulitis

Arthritis + Rheuma, 2022-09, Vol.42 (4), p.258-266

2022

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Case Report: Deficiency of Adenosine Deaminase 2 (DADA2) as a Cause of Brainstem Stroke in a 3-Year-Old Girl and the Importance of Early Fast-Track Genetic Diagnostics to Influence Therapy

Neuropediatrics, 2022-12, Vol.53 (6), p.432-435

2022

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GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy

American journal of human genetics, 2022-10, Vol.109 (10), p.1885-1893

2022

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Unusual mechanical failures of intrathecal baclofen pump systems: symptoms, signs, and trouble shooting

Child's nervous system, 2021-08, Vol.37 (8), p.2597-2604

2021

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Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C

Neuropediatrics, 2020-02, Vol.51 (1), p.37-44

2020

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Parenting stress in families of children with disabilities: Impact of type of disability and assessment of attending paediatricians

Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients

The constitutional gain‐of‐function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome

Hemiplegic Migraine in Glut1 Deficiency Syndrome and Paroxysmal Dyskinesia at Ketogenic Diet Induction: Case Report and Literature Review

Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients

Oligoclonal bands predict multiple sclerosis in children with optic neuritis

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

Still an Unsolved Question: The Place of Cranial Magnetic Resonance Imaging in Acute Acquired Concomitant Esotropia

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias

Focal Seizures and Posterior Reversible Encephalopathy Syndrome as Presenting Signs of IgA Vasculitis/Henoch-Schoenlein Purpura—An Educative Case and Systematic Review of the Literature

The Impact of Demographic Characteristics on Parenting Stress among Parents of Children with Disabilities: A Cross-Sectional Study

Cerebrospinal Fluid Protein Concentrations in Hydrocephalus

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

Akute neurologische Notfälle im Kindesalter

Ungewöhnliche Lokalisation eines Borrelien-Lymphozytoms

Epilepsien im Säuglingsalter: Eine Übersicht über Ursachen, Differenzialdiagnosen und Diagnostik

The “Ivy-Sign” in Moyamoya Disease—From MRI Pattern to Diagnosis

Fokale Krampfanfälle und Posteriores Reversibles Enzephalopathie-Syndrom (PRES) als Erstmanifestation einer IgA-Vaskulitis

Case Report: Deficiency of Adenosine Deaminase 2 (DADA2) as a Cause of Brainstem Stroke in a 3-Year-Old Girl and the Importance of Early Fast-Track Genetic Diagnostics to Influence Therapy

GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy

Unusual mechanical failures of intrathecal baclofen pump systems: symptoms, signs, and trouble shooting

Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C

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