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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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LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z−) agrin

Human genetics, 2012-07, Vol.131 (7), p.1123-1135

2012

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Mutations in MUSK causing congenital myasthenic syndrome impair MuSK–Dok-7 interaction

Human molecular genetics, 2010-06, Vol.19 (12), p.2370-2379

2010

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Proprioceptive Sensory Neuropathy in Mice with a Mutation in the Cytoplasmic Dynein Heavy Chain 1 Gene

The Journal of neuroscience, 2007-12, Vol.27 (52), p.14515-14524

2007

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Synaptic basal lamina-associated congenital myasthenic syndromes

Annals of the New York Academy of Sciences, 2012-12, Vol.1275 (1), p.36-48

2012

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Neurological and behavioral abnormalities, ventricular dilatation, altered cellular functions, inflammation, and neuronal injury in brains of mice due to common, persistent, parasitic infection

Journal of neuroinflammation, 2008-10, Vol.5 (1), p.48-48, Article 48

2008

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Nur7 Is a Nonsense Mutation in the Mouse Aspartoacylase Gene That Causes Spongy Degeneration of the CNS

The Journal of neuroscience, 2008-11, Vol.28 (45), p.11537-11549

2008

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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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A 59 YEAR-OLD MAN WITH SELLAR LESION

Brain pathology (Zurich, Switzerland), 2009-01, Vol.19 (1), p.161-162

2009

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Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A

Molecular genetics & genomic medicine, 2018-05, Vol.6 (3), p.434-440

2018

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Variable phenotypes associated with mutations in DOK7

Muscle & nerve, 2008-04, Vol.37 (4), p.448-456

2008

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Trak1 mutation disrupts GABAA receptor homeostasis in hypertonic mice

Nature genetics, 2006-02, Vol.38 (2), p.245-250

2006

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Fingolimod and related compounds in a spontaneous autoimmune polyneuropathy

Journal of neuroimmunology, 2009-09, Vol.214 (1), p.93-100

2009

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Six-week-old With Fever and Fussiness

The Pediatric infectious disease journal, 2012-05, Vol.31 (5), p.538-538

2012

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Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndrome

The Journal of clinical investigation, 2007-10, Vol.117 (10), p.2903-2912

2007

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T. gondii RP promoters & knockdown reveal molecular pathways associated with proliferation and cell-cycle arrest

PloS one, 2010-11, Vol.5 (11), p.e14057

2010

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Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH 3A

Molecular genetics & genomic medicine, 2018-05, Vol.6 (3), p.434-440

2018

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Gene targeting of BPAG1: Abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration

Cell, 1995-04, Vol.81 (2), p.233-243

1995

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Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis

Muscle & nerve, 2003-02, Vol.27 (2), p.180-187

2003

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Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms

Annals of neurology, 2002-01, Vol.51 (1), p.102-112

2002

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Prion Pathogenesis is Independent of Caspase-12

Prion, 2007-10, Vol.1 (4), p.243-247

2007

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K+ channel blockade impairs remyelination in the cuprizone model

Glia, 2004-11, Vol.48 (2), p.156-165

2004

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A Subgenomic Segment of Theiler's Murine Encephalomyelitis Virus RNA Causes Demyelination

Journal of Virology, 2008-06, Vol.82 (12), p.5879-5886, Article 5879

2008

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Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering

Muscle & nerve, 2003-09, Vol.28 (3), p.293-301

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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Neurotoxicity and Neurodegeneration When PrP Accumulates in the Cytosol

LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z−) agrin

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK–Dok-7 interaction

Proprioceptive Sensory Neuropathy in Mice with a Mutation in the Cytoplasmic Dynein Heavy Chain 1 Gene

Synaptic basal lamina-associated congenital myasthenic syndromes

Neurological and behavioral abnormalities, ventricular dilatation, altered cellular functions, inflammation, and neuronal injury in brains of mice due to common, persistent, parasitic infection

Nur7 Is a Nonsense Mutation in the Mouse Aspartoacylase Gene That Causes Spongy Degeneration of the CNS

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

A 59 YEAR-OLD MAN WITH SELLAR LESION

Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A

Variable phenotypes associated with mutations in DOK7

Trak1 mutation disrupts GABAA receptor homeostasis in hypertonic mice

Fingolimod and related compounds in a spontaneous autoimmune polyneuropathy

Six-week-old With Fever and Fussiness

Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndrome

T. gondii RP promoters & knockdown reveal molecular pathways associated with proliferation and cell-cycle arrest

Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH 3A

Gene targeting of BPAG1: Abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration

Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis

Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms

Prion Pathogenesis is Independent of Caspase-12

K+ channel blockade impairs remyelination in the cuprizone model

A Subgenomic Segment of Theiler's Murine Encephalomyelitis Virus RNA Causes Demyelination

Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering

Degenerative spine disease : Pathologic findings in 985 surgical specimens

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