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Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses

Neurogenetics, 2005-09, Vol.6 (3), p.107-126

2005

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Cytokine Expression Profile in Idiopathic Inflammatory Myopathies

Journal of neuropathology and experimental neurology, 1996-03, Vol.55 (3), p.342-347

1996

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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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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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Congenital myopathies at their molecular dawning

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

Goebel, Hans H.

2003

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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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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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Desmin-related neuromuscular disorders

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

Goebel, Hans H.

1995

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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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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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Expression of Different Isoforms of Nitric Oxide Synthase in Experimentally Denervated and Reinnervated Skeletal Muscle

Journal of neuropathology and experimental neurology, 1997-12, Vol.56 (12), p.1283-1289

1997

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Expression Profile of Stress Proteins, Intermediate Filaments, and Adhesion Molecules in Experimentally Denervated and Reinnervated Rat Facial Muscle

Experimental neurology, 1997-07, Vol.146 (1), p.125-134

1997

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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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Hamartoma of the triceps surae muscle

Acta neuropathologica, 1997-07, Vol.94 (1), p.91-94

1997

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A mild juvenile variant of type IV glycogenosis

Brain & development (Tokyo. 1979), 1992-01, Vol.14 (1), p.36-43

1992

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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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Infantile neuroaxonal dystrophy: Diagnosis by skin biopsy

Brain & development (Tokyo. 1979), 1991-07, Vol.13 (4), p.256-259

1991

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Electron microscopic studies on skin and lymphocytes in early juvenile neuronal ceroid-lipofuscinosis

Brain & development (Tokyo. 1979), 1987, Vol.9 (6), p.576-580

1987

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Electron microscopic observation of tonsillar tissue as a diagnostic aid in early juvenile neuronal ceroid-lipofuscinosis

Brain & development (Tokyo. 1979), 1987, Vol.9 (6), p.593-596

1987

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Characteristic morphologic manifestation of cadasil, cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, in skeletal muscle and skin

Muscle & nerve, 1997-05, Vol.20 (5), p.625-627

1997

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Acute infantile spinal muscular atrophy. Muscle apoptosis as a proposed pathogenetic mechanism

Brain (London, England : 1878), 1990-04, Vol.113 (2), p.433-445

1990

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Localization of the giant axonal neuropathy gene to chromosome 16q24

Annals of neurology, 1998-01, Vol.43 (1), p.143-148

1998

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Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses

Cytokine Expression Profile in Idiopathic Inflammatory Myopathies

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

Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons

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

Congenital myopathies at their molecular dawning

McLeod myopathy revisited: more neurogenic and less benign

Extracerebral biopsies in neurodegenerative diseases of childhood

Desmin-related neuromuscular disorders

Camptocormia associated with focal myositis in multiple-system atrophy

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

Expression of Different Isoforms of Nitric Oxide Synthase in Experimentally Denervated and Reinnervated Skeletal Muscle

Expression Profile of Stress Proteins, Intermediate Filaments, and Adhesion Molecules in Experimentally Denervated and Reinnervated Rat Facial Muscle

Polyneuropathy Due to Acute Arsenic Intoxication: Biopsy Studies

Focal myositis of the temporal muscle

Hamartoma of the triceps surae muscle

A mild juvenile variant of type IV glycogenosis

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

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

Infantile neuroaxonal dystrophy: Diagnosis by skin biopsy

Electron microscopic studies on skin and lymphocytes in early juvenile neuronal ceroid-lipofuscinosis

Electron microscopic observation of tonsillar tissue as a diagnostic aid in early juvenile neuronal ceroid-lipofuscinosis

Characteristic morphologic manifestation of cadasil, cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, in skeletal muscle and skin

Acute infantile spinal muscular atrophy. Muscle apoptosis as a proposed pathogenetic mechanism

Localization of the giant axonal neuropathy gene to chromosome 16q24

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