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DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans

The Journal of clinical investigation, 2019-03, Vol.129 (3), p.1229-1239

2019

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Towards a functional pathology of hereditary neuropathies

Acta Neuropathologica, 2017-04, Vol.133 (4), p.493-515

2017

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Merlin isoform 2 in neurofibromatosis type 2-associated polyneuropathy

Nature neuroscience, 2013-04, Vol.16 (4), p.426-433

2013

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Muscle biopsy substantiates long-term MRI alterations one year after a single dose of botulinum toxin injected into the lateral gastrocnemius muscle of healthy volunteers

Movement disorders, 2009-07, Vol.24 (10), p.1494-1503

2009

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Myopathy in Marinesco–Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology

Acta neuropathologica, 2014-05, Vol.127 (5), p.761-777

2014

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Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

Orphanet journal of rare diseases, 2014-08, Vol.9 (1), p.121-121, Article 121

2014

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SOX10 mutation with peripheral amyelination and developmental disturbance of axons

Muscle & nerve, 2012-02, Vol.45 (2), p.284-290

2012

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Neuropathology of Charcot-Marie-Tooth and related disorders

Neuromolecular medicine, 2006-03, Vol.8 (1-2), p.23-42

Schroder, JMichael

2006

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MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2

Brain (London, England : 1878), 2006-08, Vol.129 (8), p.2093-2102

2006

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Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy

Journal of neurology, 2013-12, Vol.260 (12), p.3093-3108

2013

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A large german kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene

Muscle & nerve, 2007-05, Vol.35 (5), p.599-606

2007

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Peripheral neuropathy in systemic lupus erythematosus: pathomorphological features and distribution pattern of matrix metalloproteinases

Acta neuropathologica, 2003-04, Vol.105 (4), p.365-372

2003

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A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia‐like phenotype of Tangier disease

Brain (London, England : 1878), 2003-04, Vol.126 (4), p.920-927

2003

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Mutations in the ganglioside‐induced differentiation‐associated protein‐1 (GDAP1) gene in intermediate type autosomal recessive Charcot–Marie–Tooth neuropathy

Brain (London, England : 1878), 2003-03, Vol.126 (3), p.642-649

2003

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Expression and distribution of the nitric oxide synthases in idiopathic inflammatory myopathies

Acta neuropathologica, 2004-07, Vol.108 (1), p.37-42

2004

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The long-term effect of recombinant tissue-plasminogen-activator (rt-PA) on edema formation in a large-animal model of intracerebral hemorrhage

Neurological research (New York), 2003-04, Vol.25 (3), p.254-262

2003

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Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene

Acta neuropathologica, 2008-11, Vol.116 (5), p.491-506

2008

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Adoptive transfer-experimental allergic neuritis in newborn Lewis rats results in inflammatory infiltrates, mast cell activation, and increased Ia expression with only minor nerve fiber degeneration

Acta neuropathologica, 2002-11, Vol.104 (5), p.513-524

2002

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The novel neurofilament light ( NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy

Neuromuscular disorders : NMD, 2004-02, Vol.14 (2), p.147-157

2004

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Immunolocalization of FAS and FAS ligand in inflammatory myopathies

Acta neuropathologica, 2001-06, Vol.101 (6), p.572-578

2001

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Correlation between the number of epineurial and endoneurial blood vessels in diseased human sural nerves

Acta neuropathologica, 2001-10, Vol.102 (4), p.364-372

2001

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“Necklace” fibers as a late clue to the interpretation of the forgotten “trilaminar” fibers

Acta neuropathologica, 2009-08, Vol.118 (2), p.317-318

Schroeder, JMichael

2009

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Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3

Biological chemistry, 2005-01, Vol.386 (1), p.61-67

2005

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Ferritinopathy: diagnosis by muscle or nerve biopsy, with a note on other nuclear inclusion body diseases

Acta neuropathologica, 2005-01, Vol.109 (1), p.109-114

Schr der, J. Michael

2005

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Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb

Muscle & nerve, 2002-04, Vol.25 (4), p.540-548

2002

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DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans

Towards a functional pathology of hereditary neuropathies

Merlin isoform 2 in neurofibromatosis type 2-associated polyneuropathy

Muscle biopsy substantiates long-term MRI alterations one year after a single dose of botulinum toxin injected into the lateral gastrocnemius muscle of healthy volunteers

Myopathy in Marinesco–Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

SOX10 mutation with peripheral amyelination and developmental disturbance of axons

Neuropathology of Charcot-Marie-Tooth and related disorders

MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2

Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy

A large german kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene

Peripheral neuropathy in systemic lupus erythematosus: pathomorphological features and distribution pattern of matrix metalloproteinases

A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia‐like phenotype of Tangier disease

Mutations in the ganglioside‐induced differentiation‐associated protein‐1 (GDAP1) gene in intermediate type autosomal recessive Charcot–Marie–Tooth neuropathy

Expression and distribution of the nitric oxide synthases in idiopathic inflammatory myopathies

The long-term effect of recombinant tissue-plasminogen-activator (rt-PA) on edema formation in a large-animal model of intracerebral hemorrhage

Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene

Adoptive transfer-experimental allergic neuritis in newborn Lewis rats results in inflammatory infiltrates, mast cell activation, and increased Ia expression with only minor nerve fiber degeneration

The novel neurofilament light ( NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy

Immunolocalization of FAS and FAS ligand in inflammatory myopathies

Correlation between the number of epineurial and endoneurial blood vessels in diseased human sural nerves

“Necklace” fibers as a late clue to the interpretation of the forgotten “trilaminar” fibers

Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3

Ferritinopathy: diagnosis by muscle or nerve biopsy, with a note on other nuclear inclusion body diseases

Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb

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