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SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome

Brain (London, England : 1878), 2013-12, Vol.136 (Pt 12), p.3634-3644

2013

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246th ENMC International Workshop: Protein aggregate myopathies 24–26 May 2019, Hoofddorp, The Netherlands

Neuromuscular disorders : NMD, 2021-02, Vol.31 (2), p.158-166

2021

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GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

Neuromuscular disorders : NMD, 2015-09, Vol.25 (9), p.713-718

2015

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Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons

Neurology, 2014-03, Vol.82 (10), p.873-878

2014

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Apoptosis-related Proteins in Skeletal Muscle Fibers of Spinal Muscular Atrophy

Journal of neuropathology and experimental neurology, 1997-02, Vol.56 (2), p.150-156

1997

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Autophagic vacuolar myopathy is a common feature of CLN3 disease

Annals of clinical and translational neurology, 2018-11, Vol.5 (11), p.1385-1393

2018

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Congenital myopathies at their molecular dawning

Muscle & nerve, 2003-05, Vol.27 (5), p.527-548

Goebel, Hans H.

2003

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De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion

Neuromuscular disorders : NMD, 2016-03, Vol.26 (3), p.236-239

2016

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Mutations in the β-tropomyosin ( TPM2) gene – a rare cause of nemaline myopathy

Neuromuscular disorders : NMD, 2002-02, Vol.12 (2), p.151-158

2002

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Actinopathies and Myosinopathies

Brain pathology (Zurich, Switzerland), 2009-07, Vol.19 (3), p.516-522

2009

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McLeod myopathy revisited: more neurogenic and less benign

Brain (London, England : 1878), 2007-12, Vol.130 (12), p.3285-3296

2007

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Cap disease uncapped

Neuromuscular disorders : NMD, 2007-06, Vol.17 (6), p.429-432

Goebel, Hans H

2007

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Genotype–phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin

Neuromuscular disorders : NMD, 2004-09, Vol.14 (8), p.461-470

2004

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Extracerebral biopsies in neurodegenerative diseases of childhood

Brain & development (Tokyo. 1979), 1999-10, Vol.21 (7), p.435-443

Goebel, Hans H

1999

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Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression

Muscle & nerve, 2014-01, Vol.49 (1), p.144-145

2014

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Novel slow-skeletal myosin ( MYH7) mutation in the original myosin storage myopathy kindred

Neuromuscular disorders : NMD, 2006-06, Vol.16 (6), p.357-360

2006

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Frontotemporal dementia: the post-tau era

Neurology, 2006-08, Vol.67 (4), p.560-561

2006

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Immune-mediated rippling muscle disease with myasthenia gravis: A report of seven patients with long-term follow-up in two

Neuromuscular disorders : NMD, 2009-03, Vol.19 (3), p.223-228

2009

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Desmin-related neuromuscular disorders

Muscle & nerve, 1995-11, Vol.18 (11), p.1306-1320

Goebel, Hans H.

1995

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Congenital Myopathies in the New Millennium

Journal of child neurology, 2005-02, Vol.20 (2), p.94-101

Goebel, Hans H.

2005

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The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation

Acta neuropathologica, 2005-04, Vol.109 (4), p.411-417

2005

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Camptocormia associated with focal myositis in multiple-system atrophy

Movement disorders, 2006-03, Vol.21 (3), p.390-394

2006

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Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

Neuromuscular disorders : NMD, 2000-12, Vol.10 (8), p.553-559

2000

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Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene ( ACTA1 ) mutation

Neuromuscular disorders : NMD, 2010-08, Vol.20 (8), p.531-533

2010

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Delayed or late-onset type II glycogenosis with globular inclusions

Acta neuropathologica, 2005-08, Vol.110 (2), p.151-157

2005

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SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome

246th ENMC International Workshop: Protein aggregate myopathies 24–26 May 2019, Hoofddorp, The Netherlands

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons

Apoptosis-related Proteins in Skeletal Muscle Fibers of Spinal Muscular Atrophy

Autophagic vacuolar myopathy is a common feature of CLN3 disease

Congenital myopathies at their molecular dawning

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion

Mutations in the β-tropomyosin ( TPM2) gene – a rare cause of nemaline myopathy

Actinopathies and Myosinopathies

McLeod myopathy revisited: more neurogenic and less benign

Cap disease uncapped

Genotype–phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin

Extracerebral biopsies in neurodegenerative diseases of childhood

Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression

Novel slow-skeletal myosin ( MYH7) mutation in the original myosin storage myopathy kindred

Frontotemporal dementia: the post-tau era

Immune-mediated rippling muscle disease with myasthenia gravis: A report of seven patients with long-term follow-up in two

Desmin-related neuromuscular disorders

Congenital Myopathies in the New Millennium

The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation

Camptocormia associated with focal myositis in multiple-system atrophy

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene ( ACTA1 ) mutation

Delayed or late-onset type II glycogenosis with globular inclusions

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