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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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Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2

Neurology, 2003-12, Vol.61 (12), p.1743-1748

2003

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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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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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Presynaptic congenital myasthenic syndrome due to quantal release deficiency

Neurology, 2001-07, Vol.57 (2), p.279-289

2001

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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.409-412

2003

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Clinical and genetic studies of fatal familial insomnia

Neurology, 1995-06, Vol.45 (6), p.1068-1075

1995

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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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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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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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Disseminated histoplasmosis in an infant with acquired immunodeficiency syndrome

The Journal of infection, 1998-11, Vol.37 (3), p.298-301

1998

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Late denervation in patients with antecedent paralytic poliomyelitis

The New England journal of medicine, 1987-07, Vol.317 (1), p.7-12

1987

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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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Inflammation at the neuromuscular junction in myasthenia gravis

Neurology, 1991-09, Vol.41 (9), p.1497-1497

1991

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S-100 protein in human chondrocytes

Nature (London), 1982-01, Vol.295 (5844), p.63-64

1982

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Distribution of S-100 protein outside the central nervous system

Brain research, 1982-02, Vol.234 (2), p.309-317

1982

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The Clinical Significance of Extracellular Matrix in Gangliogliomas

Journal of neuropathology and experimental neurology, 1996-12, Vol.55 (12), p.1246-1252

1996

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The human-severe combined immunodeficiency myasthenic mouse model: A new approach for the study of myasthenia gravis

Annals of neurology, 1993-07, Vol.34 (1), p.48-56

1993

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Slow-Channel Transgenic Mice: A Model of Postsynaptic Organellar Degeneration at the Neuromuscular Junction

The Journal of neuroscience, 1997-06, Vol.17 (11), p.4170-4179

1997

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Sympathectomy augments adoptively transferred experimental allergic encephalomyelitis

Journal of neuroimmunology, 1992-03, Vol.37 (1), p.99-103

1992

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SAG: a Schwann cell membrane glycoprotein

The Journal of neuroscience, 1992-06, Vol.12 (6), p.2177-2185

1992

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Concomitant Chemoradiotherapy, Neutron Boost, and Adjuvant Chemotherapy for Anaplastic Astrocytoma and Glioblastoma Multiforme

Cancer investigation, 1995, Vol.13 (5), p.453-459

1995

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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

Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2

Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations

Surfactant-Induced Sealing of Electropermeabilized Skeletal Muscle Membranes in vivo

Presynaptic congenital myasthenic syndrome due to quantal release deficiency

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

Clinical and genetic studies of fatal familial insomnia

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

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

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

Disseminated histoplasmosis in an infant with acquired immunodeficiency syndrome

Late denervation in patients with antecedent paralytic poliomyelitis

Degenerative spine disease : Pathologic findings in 985 surgical specimens

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

Inflammation at the neuromuscular junction in myasthenia gravis

S-100 protein in human chondrocytes

Distribution of S-100 protein outside the central nervous system

The Clinical Significance of Extracellular Matrix in Gangliogliomas

The human-severe combined immunodeficiency myasthenic mouse model: A new approach for the study of myasthenia gravis

Slow-Channel Transgenic Mice: A Model of Postsynaptic Organellar Degeneration at the Neuromuscular Junction

Sympathectomy augments adoptively transferred experimental allergic encephalomyelitis

SAG: a Schwann cell membrane glycoprotein

Concomitant Chemoradiotherapy, Neutron Boost, and Adjuvant Chemotherapy for Anaplastic Astrocytoma and Glioblastoma Multiforme

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