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Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

Journal of medical genetics, 2009-03, Vol.46 (3), p.203-208

2009

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Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE

Clinical genetics, 2011-11, Vol.80 (5), p.444-451

2011

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Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia

Clinical genetics, 2014-02, Vol.85 (2), p.166-171

2014

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The L-Coding Region of the DA Strain of Theiler's Murine Encephalomyelitis Virus Causes Dysfunction and Death of Myelin-Synthesizing Cells

Journal of Virology, 2011-09, Vol.85 (18), p.9377-9384

2011

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The History of Sclerosing Foams

Dermatologic surgery, 2004-05, Vol.30 (5), p.694-703

Wollmann, Jan‐Christoph G. R.

2004

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Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2

Neurology, 2003-12, Vol.61 (12), p.1743

2003

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A flexible production planning for rolling-horizons

International journal of production economics, 2017-08, Vol.190, p.31-36

2017

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A middle-aged woman with nausea, weight loss, and orthostatic hypotension

Neurology, 2011-08, Vol.77 (5), p.489

2011

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Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations

Clinical genetics, 2007-07, Vol.72 (1), p.63-65

2007

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Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions

American journal of human genetics, 1996-08, Vol.59 (2), p.400-406

1996

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γ-Sarcoglycan Deficiency Leads to Muscle Membrane Defects and Apoptosis Independent of Dystrophin

The Journal of cell biology, 1998-09, Vol.142 (5), p.1279-1287

1998

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Neurotoxicity and Neurodegeneration When PrP Accumulates in the Cytosol

Science (American Association for the Advancement of Science), 2002-11, Vol.298 (5599), p.1781-1785

2002

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A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation

Neurology, 2003-08, Vol.61 (3), p.409

2003

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Presynaptic congenital myasthenic syndrome due to quantal release deficiency

Neurology, 2001-07, Vol.57 (2), p.279

2001

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Surfactant-Induced Sealing of Electropermeabilized Skeletal Muscle Membranes in vivo

Proceedings of the National Academy of Sciences - PNAS, 1992-05, Vol.89 (10), p.4524-4528

1992

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Clinical and Technical Follow‐Up after Sclerotherapy

Dermatologic surgery, 2010-06, Vol.36 (Sup 2), p.1004-1009

2010

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Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) with hypertrophic spinal radiculopathy mimicking neurofibromatosis

Acta neuropathologica, 2003-02, Vol.105 (2), p.185-188

2003

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Degenerative spine disease : Pathologic findings in 985 surgical specimens

American journal of clinical pathology, 2006-02, Vol.125 (2), p.193-202

2006

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Active Calcium Accumulation Underlies Severe Weakness in a Panel of Mice with Slow-Channel Syndrome

The Journal of neuroscience, 2002-08, Vol.22 (15), p.6447-6457

2002

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Clinical and genetic studies of fatal familial insomnia

Neurology, 1995-06, Vol.45 (6), p.1068

1995

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Patients with myasthenia gravis and thymoma have in their sera IgG autoantibodies against titin

Clinical and experimental immunology, 1990-11, Vol.82 (2), p.284-288

1990

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The Interaction between Cytoplasmic Prion Protein and the Hydrophobic Lipid Core of Membrane Correlates with Neurotoxicity

The Journal of biological chemistry, 2006-05, Vol.281 (19), p.13559-13565

2006

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CNS gene delivery by retrograde transport of recombinant replication-defective adenoviruses

Gene therapy, 1995-03, Vol.2 (2), p.132

1995

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Cluster of wound botulism in California: Clinical, electrophysiologic, and pathologic study

Muscle & nerve, 1997-10, Vol.20 (10), p.1284-1295

1997

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Traumatic aneurysm resulting from insertion of an intracranial pressure monitor. Case illustration

Journal of neurosurgery, 2001-10, Vol.95 (4), p.720

2001

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Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE

Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia

The L-Coding Region of the DA Strain of Theiler's Murine Encephalomyelitis Virus Causes Dysfunction and Death of Myelin-Synthesizing Cells

The History of Sclerosing Foams

Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2

A flexible production planning for rolling-horizons

A middle-aged woman with nausea, weight loss, and orthostatic hypotension

Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations

Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions

γ-Sarcoglycan Deficiency Leads to Muscle Membrane Defects and Apoptosis Independent of Dystrophin

Neurotoxicity and Neurodegeneration When PrP Accumulates in the Cytosol

A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation

Presynaptic congenital myasthenic syndrome due to quantal release deficiency

Surfactant-Induced Sealing of Electropermeabilized Skeletal Muscle Membranes in vivo

Clinical and Technical Follow‐Up after Sclerotherapy

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) with hypertrophic spinal radiculopathy mimicking neurofibromatosis

Degenerative spine disease : Pathologic findings in 985 surgical specimens

Active Calcium Accumulation Underlies Severe Weakness in a Panel of Mice with Slow-Channel Syndrome

Clinical and genetic studies of fatal familial insomnia

Patients with myasthenia gravis and thymoma have in their sera IgG autoantibodies against titin

The Interaction between Cytoplasmic Prion Protein and the Hydrophobic Lipid Core of Membrane Correlates with Neurotoxicity

CNS gene delivery by retrograde transport of recombinant replication-defective adenoviruses

Cluster of wound botulism in California: Clinical, electrophysiologic, and pathologic study

Traumatic aneurysm resulting from insertion of an intracranial pressure monitor. Case illustration

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