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Th2-M2 immunity in lesions of muscular sarcoidosis and macrophagic myofasciitis

Neuropathology and applied neurobiology, 2015-12, Vol.41 (7), p.952-963

2015

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Current State of Clinical and Morphological Features in Human NCL

Brain pathology (Zurich, Switzerland), 2004-01, Vol.14 (1), p.61-69

2004

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Protein Aggregation in Congenital Myopathies

Seminars in pediatric neurology, 2011-12, Vol.18 (4), p.272-276

2011

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Congenital myopathy and epidermolysis bullosa due to PLEC variant

Neuromuscular disorders : NMD, 2021-11, Vol.31 (11), p.1212-1217

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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Desmin-related myopathy with mallory body-like inclusions is caused by mutations of the selenoprotein N gene

Annals of neurology, 2004-05, Vol.55 (5), p.676-686

2004

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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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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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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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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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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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Myopathy with hexagonally cross-linked crystalloid inclusions: Delineation of a clinico-pathological entity

Neuromuscular disorders : NMD, 2010-11, Vol.20 (11), p.701-708

2010

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A series of west European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin

Journal of neurology, 2004-02, Vol.251 (2), p.143-149

2004

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Polyneuropathy Due to Acute Arsenic Intoxication: Biopsy Studies

Journal of neuropathology and experimental neurology, 1990-03, Vol.49 (2), p.137-149

1990

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Focal myositis of the temporal muscle

Muscle & nerve, 1993-12, Vol.16 (12), p.1374-1376

1993

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Immunolocalization of tenascin-C in human type II fiber atrophy

Journal of molecular neuroscience, 1999-08, Vol.13 (1-2), p.167-176

1999

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Congenital Cytoplasmic Body Myopathy: Case Report

Journal of child neurology, 1997-02, Vol.12 (2), p.149-152

1997

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Desmin-related myopathies

Current opinion in neurology, 1997-10, Vol.10 (5), p.426-429

Goebel, H H

1997

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The Neuronal Ceroid-Lipofuscinoses. Recent Advances

Brain pathology (Zurich, Switzerland), 1998-01, Vol.8 (1), p.151-162

1998

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Alcohol-related acute axonal polyneuropathy: a differential diagnosis of Guillain-Barré syndrome

Archives of neurology (Chicago), 1998-10, Vol.55 (10), p.1329

1998

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Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin

Neuropediatrics, 2002-08, Vol.33 (4), p.199-202

2002

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Familial mixed congenital myopathy with rigid spine phenotype

Muscle & nerve, 1997-04, Vol.20 (4), p.411-417

1997

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Th2-M2 immunity in lesions of muscular sarcoidosis and macrophagic myofasciitis

Current State of Clinical and Morphological Features in Human NCL

Protein Aggregation in Congenital Myopathies

Congenital myopathy and epidermolysis bullosa due to PLEC variant

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

Desmin-related myopathy with mallory body-like inclusions is caused by mutations of the selenoprotein N gene

McLeod myopathy revisited: more neurogenic and less benign

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

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

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

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

Myopathy with hexagonally cross-linked crystalloid inclusions: Delineation of a clinico-pathological entity

A series of west European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin

Polyneuropathy Due to Acute Arsenic Intoxication: Biopsy Studies

Focal myositis of the temporal muscle

Immunolocalization of tenascin-C in human type II fiber atrophy

Congenital Cytoplasmic Body Myopathy: Case Report

Desmin-related myopathies

The Neuronal Ceroid-Lipofuscinoses. Recent Advances

Alcohol-related acute axonal polyneuropathy: a differential diagnosis of Guillain-Barré syndrome

Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin

Familial mixed congenital myopathy with rigid spine phenotype

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