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Newborn infant screening for spinal muscular atrophy: Chances and challenges

Developmental medicine and child neurology, 2022-05, Vol.64 (5), p.535-535

Mueller‐Felber, Wolfgang

2022

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Molecular therapies in childhood neuromuscular disorders-definite hope versus unknown pitfalls

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2020-07, Vol.63 (7), p.891-897

2020

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Diagnostic approach to the congenital muscular dystrophies

Neuromuscular disorders : NMD, 2014-04, Vol.24 (4), p.289-311

2014

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A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy

Neurology, 2017-10, Vol.89 (17), p.1811-1820

2017

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Myositis: from diagnosis to treatment

Nervenarzt, 2023-06, Vol.94 (6), p.510-518

2023

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Re: "Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy" by Wilson and Flotte

Human gene therapy, 2020-08, Vol.31 (15-16), p.787-787

2020

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Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

American journal of human genetics, 2011-10, Vol.89 (4), p.543-550

2011

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Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness

Neurology, 2016-07, Vol.87 (3), p.295-298

2016

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Neuromuscular conditions and the impact of cystine‐depleting therapy in infantile nephropathic cystinosis: A cross‐sectional analysis of 55 patients

Journal of inherited metabolic disease, 2022-03, Vol.45 (2), p.183-191

2022

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Unilateral Tongue Fasciculation Associated with Genetic Paraganglioma Syndrome

Neuropediatrics, 2018-02, Vol.49 (1), p.78-79

2018

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Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

Nature communications, 2019-10, Vol.10 (1), p.4790-13, Article 4790

2019

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

American journal of human genetics, 2016-10, Vol.99 (4), p.894-902

2016

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Pompe disease: Design, methodology, and early findings from the Pompe Registry

Molecular genetics and metabolism, 2011-05, Vol.103 (1), p.1-11

2011

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Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Lancet neurology, 2024-04, Vol.23 (4), p.393-403

2024

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Jumping Mechanography is a Suitable Complementary Method to Assess Motor Function in Ambulatory Boys with Duchenne Muscular Dystrophy

Neuropediatrics, 2021-12, Vol.52 (6), p.455-461

2021

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Clinical Neurophysiology in Neuromuscular Disorders: Old Fashioned or Still Relevant?

Neuropediatrics, 2017-08, Vol.48 (4), p.221-225

2017

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Learning an Infant Body Model from RGB-D Data for Accurate Full Body Motion Analysis

Medical Image Computing and Computer Assisted Intervention – MICCAI 2018, p.792-800

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36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy

Journal of inherited metabolic disease, 2012-09, Vol.35 (5), p.837-845

2012

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SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy

Human genetics, 2018-12, Vol.137 (11-12), p.911-919

2018

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A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation

Movement disorders, 2017-05, Vol.32 (5), p.797-799

2017

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Neuromuskuläre Erkrankungen bei Kindern und Jugendlichen: Leitfaden für die klinische Praxis

1st ed., 2015

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Is Exercise-Induced Fatigue a Problem in Children with Duchenne Muscular Dystrophy?

Neuropediatrics, 2020-10, Vol.51 (5), p.342-348

2020

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Pattern of myogenesis and vascular repair in early and advanced lesions of juvenile dermatomyositis

Neuromuscular disorders : NMD, 2018-12, Vol.28 (12), p.973-985

2018

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Newborn screening program for spinal muscular atrophy

Nervenarzt, 2022-02, Vol.93 (2), p.135-141

2022

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Newborn infant screening for spinal muscular atrophy: Chances and challenges

Molecular therapies in childhood neuromuscular disorders-definite hope versus unknown pitfalls

Diagnostic approach to the congenital muscular dystrophies

A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy

Myositis: from diagnosis to treatment

Re: "Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy" by Wilson and Flotte

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness

Neuromuscular conditions and the impact of cystine‐depleting therapy in infantile nephropathic cystinosis: A cross‐sectional analysis of 55 patients

Unilateral Tongue Fasciculation Associated with Genetic Paraganglioma Syndrome

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

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

Pompe disease: Design, methodology, and early findings from the Pompe Registry

Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Jumping Mechanography is a Suitable Complementary Method to Assess Motor Function in Ambulatory Boys with Duchenne Muscular Dystrophy

Clinical Neurophysiology in Neuromuscular Disorders: Old Fashioned or Still Relevant?

Learning an Infant Body Model from RGB-D Data for Accurate Full Body Motion Analysis

36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy

A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation

Neuromuskuläre Erkrankungen bei Kindern und Jugendlichen: Leitfaden für die klinische Praxis

Is Exercise-Induced Fatigue a Problem in Children with Duchenne Muscular Dystrophy?

Pattern of myogenesis and vascular repair in early and advanced lesions of juvenile dermatomyositis

Newborn screening program for spinal muscular atrophy

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