Abstracts (HTML) List of Authors

Magg, J.

“Porphyria Plus”: Siblings with Homozygous Variegate Porphyria, a Complex Developmental Disorder and Hypomyelination

Mahler, E.

The Potential of Whole-Exome Sequencing (WES) in Neuropediatric Patients: Single-Center Experience at the University Hospital Hamburg Eppendorf

Maldaun, M.

Expert Opinion on the Management of Intracerebroventricular (ICV) Drug Delivery

Malzahn, D.

FOXG1 Syndrome: Genotype–Phenotype Association in 84 Patients with FOXG1 Variants

Marina, Della A.

A Rare Cause of Congenital Ptosis with External Ophthalmoplegia: Case Report and Differential Diagnosis

Marquardt, G.

What Is the Right Pressure of Shunt Valves in Newborns?

Marquardt, T.

Niemann-Pick Type C Disease: A Challenge in Diagnostics, Therapy, and Care for Affected Families
Globotriaosylsphingosine (Lyso-GB3 bzw. Lyso-GL3), an Excellent Biomarker for Children with Fabry Disease

Matschke, J.

A Novel Nonsense Mutation in TRIP4 Gene Causes Severe Muscular Weakness with Respiratory Failure and Cardiomyopathy but without Skin, Joint, and/or Bone Abnormalities

Mautner, V.-F.

ADHD Is a Risk Factor for Cognitive Development in NF1

May, T.

Evaluation of the Effects of Anticonvulsive Therapy in Children with Symptomatic Epilepsy by a State Space Modeling Approach

Mayatepek, E.

Congenital Myasthenic Syndrome Caused by Isolated PREPL Deficiency
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Mayer, V.

Titinopathies in Human Genetics Diagnostics
CNV Detection from Targeted Next-Generation Panel Sequencing Data Increases the Diagnostic Yield in Patients with Neuromuscular Diseases

Mayr, J.

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Mayr, Johannes A.

Reversible Epileptic Encephalopathy upon Uridine Treatment in Patients with CAD Mutations

Mazzone, Elena S.

Efficacy and safety of nusinersen in children with later-onset spinal muscular atrophy (SMA): results of the phase 3 CHERISH study

McIntosh, J.

Lung Function in Ataluren-Treated, Nonambulatory Patients with Nonsense Mutation Duchenne Muscular Dystrophy from a Long-Term Extension Trial

Meitinger, T.

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Mercuri, E.

Interim Efficacy and Safety Results from the Phase 3 ENDEAR Study of Nusinersen in Infants Diagnosed with Spinal Muscular Atrophy (SMA)

Mercuri, Eugenio

Efficacy and safety of nusinersen in children with later-onset spinal muscular atrophy (SMA): results of the phase 3 CHERISH study

Methling, B.

CAPOS-Syndrome: A Rare Differential Diagnosis to Friedreich’s Ataxia

Meyer-Heim, A.

New Technologies in Pediatric Rehabilitation

Michel, J.

GOAL: Gait Outcome Assessment List

Mitter, D.

FOXG1 Syndrome: Genotype–Phenotype Association in 84 Patients with FOXG1 Variants

Moawia, A.

Mutations in KIF14, Encoding Kinesin-Like Protein KIF14, Cause Primary and Syndromic Microcephaly

Mohr, N.

Radiological Changes in Patients with Spina Bifida

Molle, Krause Z.

GAD65-Positive Limbic Encephalitis and Large Temporal Arachnoid Cyst: A Diagnostic Conundrum

Montes, J.

Interim Efficacy and Safety Results from the Phase 3 ENDEAR Study of Nusinersen in Infants Diagnosed with Spinal Muscular Atrophy (SMA)

Montes, Jacqueline

Efficacy and safety of nusinersen in children with later-onset spinal muscular atrophy (SMA): results of the phase 3 CHERISH study

Moontaha, S.

Evaluation of the Effects of Anticonvulsive Therapy in Children with Symptomatic Epilepsy by a State Space Modeling Approach

Mörsdorf, L.

Difficulties in the Acquisition of Literacy in Children with Rolandic Epilepsy or Rolandic EEG Pattern

Mrasek, K.

Unbalanced Translocation Affecting the Long Arms of Chromosome 10 and 22 Causes Complex Syndromes with Very Severe Neurodevelopmental Delay, Speech Impairment, Autistic Behavior, and Epilepsy

Mueller-Stoever, S.

A Novel Nonsense Mutation in TRIP4 Gene Causes Severe Muscular Weakness with Respiratory Failure and Cardiomyopathy but without Skin, Joint, and/or Bone Abnormalities

Müller, K.

GAD65-Positive Limbic Encephalitis and Large Temporal Arachnoid Cyst: A Diagnostic Conundrum
Acute Flaccid Myelitis (AFM) Associated with Enterovirus: A Distinct Clinical Entity?

Müller-Felber, W.

Progressive Radial Motor Neuropathy Due to a Perineurioma in an Adolescent Girl: Case Report
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood
Improving the Quality of Care in the Specialization: The Benefits of “Hands-on” Courses for Learning Neuromuscular Ultrasound

Muntoni, F.

Interim Efficacy and Safety Results from the Phase 3 ENDEAR Study of Nusinersen in Infants Diagnosed with Spinal Muscular Atrophy (SMA)