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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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Myofibrillar disorganization characterizes myopathy of camptocormia in Parkinson’s disease

Acta neuropathologica, 2012-03, Vol.123 (3), p.419-432

2012

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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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Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies

Neuromuscular disorders : NMD, 2014-12, Vol.24 (12), p.1122-1122

2014

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TPM2 mutation

Neuromuscular disorders : NMD, 2008-12, Vol.18 (12), p.1005-1005

2008

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169th ENMC International Workshop Rare Structural Congenital Myopathies 6–8 November 2009, Naarden, The Netherlands

Neuromuscular disorders : NMD, 2011-05, Vol.21 (5), p.363-374

2011

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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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ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment

BioMed research international, 2015-01, Vol.2015 (2015), p.1-10

2015

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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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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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How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy

Human mutation, 2009-03, Vol.30 (3), p.E490-E499

2009

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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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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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The Eighth Meryon Society Lecture read at Worcester College, Oxford on 2 July, 2004

Neuromuscular disorders : NMD, 2004-12, Vol.14 (12), p.822-828

Goebel, Hans H

2004

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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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July 2003: 62-year-old female with progressive muscular weakness

Brain pathology (Zurich, Switzerland), 2004-01, Vol.14 (1), p.109-110

2004

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Infantile Intranuclear Rod Myopathy

Journal of child neurology, 1997-01, Vol.12 (1), p.22-30

1997

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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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Ultrastructural Pathology of Eccrine Sweat Gland Epithelial Cells in Globoid Cell Leukodystrophy

Journal of child neurology, 1993-04, Vol.8 (2), p.171-174

1993

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Prenatal diagnosis of infantile neuronal ceroid-lipofuscinosis: a combined electron microscopic and molecular genetic approach

Brain & development (Tokyo. 1979), 1995-03, Vol.17 (2), p.83-88

1995

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Neonatal Form of Nemaline Myopathy, Muscle Immaturity, and a Microvascular Injury

Journal of child neurology, 1990-04, Vol.5 (2), p.122-126

1990

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Congenital myopathy with excess of thin myofilaments

Neuromuscular disorders : NMD, 1997-05, Vol.7 (3), p.160-168

1997

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The neuronal ceroid-lipofuscinoses

Seminars in pediatric neurology, 1996-12, Vol.3 (4), p.270-278

Goebel, Hans H.

1996

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

Myofibrillar disorganization characterizes myopathy of camptocormia in Parkinson’s disease

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

Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies

TPM2 mutation

169th ENMC International Workshop Rare Structural Congenital Myopathies 6–8 November 2009, Naarden, The Netherlands

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

ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment

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

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

Frontotemporal dementia: the post-tau era

How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy

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

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

The Eighth Meryon Society Lecture read at Worcester College, Oxford on 2 July, 2004

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

July 2003: 62-year-old female with progressive muscular weakness

Infantile Intranuclear Rod Myopathy

Immunolocalization of tenascin-C in human type II fiber atrophy

Ultrastructural Pathology of Eccrine Sweat Gland Epithelial Cells in Globoid Cell Leukodystrophy

Prenatal diagnosis of infantile neuronal ceroid-lipofuscinosis: a combined electron microscopic and molecular genetic approach

Neonatal Form of Nemaline Myopathy, Muscle Immaturity, and a Microvascular Injury

Congenital myopathy with excess of thin myofilaments

The neuronal ceroid-lipofuscinoses

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