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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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LGMD2I elicits a specific skeletal muscle immune response

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

2016

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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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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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Neugeborenenscreening auf spinale Muskelatrophie: Was muss der Pädiater wissen?

Monatsschrift Kinderheilkunde, 2024-07, Vol.172 (7), p.595-600

2024

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P294 A comprehensive study of the inflammatory signature in sarcoglycanopathies

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S117-S117

2023

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P428 Biochemical changes in chorionic villi of LAMA2-patients resemble muscle relevant disease processes

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S159-S159

2023

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P405 First clinical and myopathological description of a congenital myopathy based on a homozygous variant in TNNI2

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S125-S125

2023

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P206 Impaired neurodevelopment in children with 5q-SMA - 2 years after newborn screening

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S86-S86

2023

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Spinale Muskelatrophie: Zeit für das Neugeborenenscreening?

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

2017

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SMA CLINICAL DATA: EP.250 Description of cardiac involvement in 5q SMA pediatric patients

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S125-S125

2021

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SMA CLINICAL DATA

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S125

2021

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Inflammation-induced fibrosis in skeletal muscle of female carriers of Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2019-07, Vol.29 (7), p.487-496

2019

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Kleinkind mit sich früh entwickelnder Neuropathie, Klumpfüßen und im Verlauf zunehmender Schwäche der Atemmuskulatur

Monatsschrift Kinderheilkunde, 2016-02, Vol.164 (2), p.86-88

2016

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VP.20 Cathepsin D as biomarker in CSF of nusinersen-treated patients with spinal muscular atrophy

Neuromuscular disorders : NMD, 2022-10, Vol.32, p.S64

2022

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P.275Determination of protein markers in skeletal muscle of SMA type 3 patients

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S147-S147

2019

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HEREDITARY NEUROPATHIES & ALS

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S79

2020

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HEREDITARY NEUROPATHIES & ALS: P.112 Description of muscular involvement in a NEFL-caused neurological disease

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S79-S79

2020

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O09 Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S130-S130

2023

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METABOLIC MYOPATHIES II

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S137

2018

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METABOLIC MYOPATHIES II: P.355Glycogen storage disease type IV: a wide clinical range of neuromuscular phenotypes

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S137-S137

2018

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NEW GENES AND DISEASES: EP.305 Homozygous WASHC4 variant in two sisters causes a syndromic phenotype with skeletal muscle involvement

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S143-S143

2021

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NEW GENES AND DISEASES

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S143

2021

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P.494 - A rare cause of congenital ptosis with external ophthalmoplegia: case report and differential diagnosis

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S243-S243

2017

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

LGMD2I elicits a specific skeletal muscle immune response

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

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

Neugeborenenscreening auf spinale Muskelatrophie: Was muss der Pädiater wissen?

P294 A comprehensive study of the inflammatory signature in sarcoglycanopathies

P428 Biochemical changes in chorionic villi of LAMA2-patients resemble muscle relevant disease processes

P405 First clinical and myopathological description of a congenital myopathy based on a homozygous variant in TNNI2

P206 Impaired neurodevelopment in children with 5q-SMA - 2 years after newborn screening

Spinale Muskelatrophie: Zeit für das Neugeborenenscreening?

SMA CLINICAL DATA: EP.250 Description of cardiac involvement in 5q SMA pediatric patients

SMA CLINICAL DATA

Inflammation-induced fibrosis in skeletal muscle of female carriers of Duchenne muscular dystrophy

Kleinkind mit sich früh entwickelnder Neuropathie, Klumpfüßen und im Verlauf zunehmender Schwäche der Atemmuskulatur

VP.20 Cathepsin D as biomarker in CSF of nusinersen-treated patients with spinal muscular atrophy

P.275Determination of protein markers in skeletal muscle of SMA type 3 patients

HEREDITARY NEUROPATHIES & ALS

HEREDITARY NEUROPATHIES & ALS: P.112 Description of muscular involvement in a NEFL-caused neurological disease

O09 Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects

METABOLIC MYOPATHIES II

METABOLIC MYOPATHIES II: P.355Glycogen storage disease type IV: a wide clinical range of neuromuscular phenotypes

NEW GENES AND DISEASES: EP.305 Homozygous WASHC4 variant in two sisters causes a syndromic phenotype with skeletal muscle involvement

NEW GENES AND DISEASES

P.494 - A rare cause of congenital ptosis with external ophthalmoplegia: case report and differential diagnosis

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