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Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial

The Lancet (British edition), 2015-05, Vol.385 (9979), p.1748-1757

2015

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Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

Clinical genetics, 2016-01, Vol.89 (1), p.34-43

2016

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Transition from neuropediatrics to neurology in neuromuscular diseases

Nervenarzt, 2018-10, Vol.89 (10), p.1123-1130

2018

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The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity

Autophagy, 2018-01, Vol.14 (1), p.22-37

2018

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Impaired secretion of platelet granules in patients with Duchenne muscular dystrophy – results of a prospective diagnostic study

Neuromuscular disorders : NMD, 2021-01, Vol.31 (1), p.35-43

2021

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Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

Brain (London, England : 1878), 2007-06, Vol.130 (6), p.1497-1506

2007

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Nesprinopathies: A wide clinical range of phenotypes and characteristic ultrastructural findings

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S139-S139

2016

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LGMD2I elicits a specific skeletal muscle immune response

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S92-S92

2016

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Clinical Spectrum in Juvenile Dermatomyositis

Neuropediatrics, 2017, Vol.48 (S 01), p.S1-S45

Schara, U.

2017

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Spinal muscular atrophy : Time for newborn screening?

Nervenarzt, 2017-12, Vol.88 (12), p.1358-1366

2017

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P30 Does a physiological COX isoform switch contribute to the clinical presentation of infantile reversible cytochrome c oxidase deficiency?

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S14-S15

2014

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G.P.180

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.859-860

2014

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Benign epilepsy with centrotemporal spikes: Correlating spike frequency and neuropsychology

Acta neurologica Scandinavica, 2018-12, Vol.138 (6), p.475-481

2018

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G.P.235

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.887-887

2014

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Gene-based treatment in spinal muscular atrophy

Nervenarzt, 2022-06, Vol.93 (6), p.549-556

2022

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Low ovarian reserve in girls with autosomal-recessive proximal spinal muscular atrophies type I–III

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S196-S196

2015

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Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients

Molecular therapy. Methods & clinical development, 2020-06, Vol.17, p.1178-1189

2020

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Somatropin treatment of spinal muscular atrophy: A placebo-controlled, double-blind crossover pilot study

Neuromuscular disorders : NMD, 2014-02, Vol.24 (2), p.134-142

2014

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DYT16 mimics metabolic disease with fever associated beginning of dystonia and MRI abnormalities

European journal of paediatric neurology, 2017-06, Vol.21, p.e177-e177

2017

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Unspecific white matter hyperintensity in T2-weighted imaging and dystonia as the first manifestations of ataxia telangiectasia

European journal of paediatric neurology, 2017-06, Vol.21, p.e214-e214

2017

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Recessively-acting choline transporter mutations associated with severe congenital myasthenia disrupt transporter surface trafficking in vitro and in vivo

NEUROMUSCULAR DISORDERS, 2017, Vol.27, p.S220-S221

2017

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Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S156-S156

2016

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Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S156-S157

2016

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Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations

Neuromuscular disorders : NMD, 2009-12, Vol.19 (12), p.828-832

2009

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Baseline data from a European prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy – NatHis-SMA

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S103-S103

2016

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Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

Transition from neuropediatrics to neurology in neuromuscular diseases

The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity

Impaired secretion of platelet granules in patients with Duchenne muscular dystrophy – results of a prospective diagnostic study

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

Nesprinopathies: A wide clinical range of phenotypes and characteristic ultrastructural findings

LGMD2I elicits a specific skeletal muscle immune response

Clinical Spectrum in Juvenile Dermatomyositis

Spinal muscular atrophy : Time for newborn screening?

P30 Does a physiological COX isoform switch contribute to the clinical presentation of infantile reversible cytochrome c oxidase deficiency?

G.P.180

Benign epilepsy with centrotemporal spikes: Correlating spike frequency and neuropsychology

G.P.235

Gene-based treatment in spinal muscular atrophy

Low ovarian reserve in girls with autosomal-recessive proximal spinal muscular atrophies type I–III

Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients

Somatropin treatment of spinal muscular atrophy: A placebo-controlled, double-blind crossover pilot study

DYT16 mimics metabolic disease with fever associated beginning of dystonia and MRI abnormalities

Unspecific white matter hyperintensity in T2-weighted imaging and dystonia as the first manifestations of ataxia telangiectasia

Recessively-acting choline transporter mutations associated with severe congenital myasthenia disrupt transporter surface trafficking in vitro and in vivo

Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy

Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations

Baseline data from a European prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy – NatHis-SMA

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