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Retrograde accretion and merging supermassive black holes

Monthly notices of the Royal Astronomical Society, 2011-04, Vol.412 (3), p.1591-1598

2011

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A mouse model of the slow channel myasthenic syndrome: Neuromuscular physiology and effects of ephedrine treatment

Experimental neurology, 2013-10, Vol.248, p.286-298

2013

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Clinical features of the DOK7 neuromuscular junction synaptopathy

Brain (London, England : 1878), 2007-06, Vol.130 (6), p.1507-1515

2007

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Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations

Brain (London, England : 1878), 2006-10, Vol.129 (10), p.2773-2783

2006

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Inhibition of the tyrosine phosphatase Shp2 alleviates the pathogeniceff ects of MuSK antibodies in vitro

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S36-S36

2017

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P42 Pathogenic mechanisms of RAPSN mutations in congenital myasthenic syndromes

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S18-S18

2014

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Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes

Neurology, 2003-09, Vol.61 (6), p.826-828

2003

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P60 Shared defective glycosylation pathways link congenital myasthenic syndromes with the dystroglycanopathies

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S23-S23

2014

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Enhanced expression of MMP-7 and MMP-9 in demyelinating multiple sclerosis lesions

Acta neuropathologica, 1997-12, Vol.94 (6), p.590-598

1997

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Effect of sera from AChR-antibody negative myasthenia gravis patients on AChR and MuSK in cell cultures

Journal of neuroimmunology, 2007-04, Vol.185 (1), p.136-144

2007

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P23 Fluorescent receptors to light up the neuromuscular junction

Neuromuscular disorders : NMD, 2011, Vol.21, p.S12-S13

2011

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P33 Impaired neurotransmission in a mouse model of the slow channel congenital myasthenic syndrome is improved by the sympathomimetic drug ephedrine

Neuromuscular disorders : NMD, 2011, Vol.21, p.S15-S15

2011

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P.1.6 Investigating collagen VI biosynthesis and assembly in the context of ALG2 impairment in Ullrich/CMS-like family

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.743-743

2013

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P35 The spectrum of mutations that underlie the DOK7 neuromuscular junction synaptopathy, and the patient response to treatment

Neuromuscular disorders : NMD, 2012-03, Vol.22, p.S16-S16

2012

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Glial growth factor 2 induces proliferation and structural changes in ensheathing cells

Brain research, 2000-02, Vol.857 (1), p.265-274

2000

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Distinct phenotypes of congenital acetylcholine receptor deficiency

Neuromuscular disorders : NMD, 2004-06, Vol.14 (6), p.356-364

2004

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Identification of MMP-18, a Putative Novel Human Matrix Metalloproteinase

Biochemical and biophysical research communications, 1996-11, Vol.228 (2), p.494-498

1996

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P51 Ephedrine treatment in DOK7 CMS and investigation of potential mechanisms

Neuromuscular disorders : NMD, 2010, Vol.20, p.S18-S18

2010

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The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder

Journal of medical genetics, 2004-08, Vol.41 (8), p.e104-e104

2004

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Matrix metalloproteinase expression during experimental autoimmune encephalomyelitis and effects of a combined matrix metalloproteinase and tumour necrosis factor- α inhibitor

Journal of neuroimmunology, 1997-04, Vol.74 (1), p.85-94

1997

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Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

American journal of human genetics, 2011-02, Vol.88 (2), p.162-172

2011

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Quantitation of matrix metalloproteinases in cultured rat astrocytes using the polymerase chain reaction with a multi-competitor cDNA standard

Glia, 1996-12, Vol.18 (4), p.332-340

1996

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Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients

American journal of human genetics, 2008-01, Vol.82 (1), p.222-227

2008

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Smoothed Particle Hydrodynamics for astrophysical flows

European physical journal plus, 2011-04, Vol.126 (4), p.44

2011

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NMJ+C10 - Inhibition of the tyrosine phosphatase Shp2 alleviates the pathogeniceff ects of MuSK antibodies in vitro

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S36-S36

2017

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Retrograde accretion and merging supermassive black holes

A mouse model of the slow channel myasthenic syndrome: Neuromuscular physiology and effects of ephedrine treatment

Clinical features of the DOK7 neuromuscular junction synaptopathy

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations

Inhibition of the tyrosine phosphatase Shp2 alleviates the pathogeniceff ects of MuSK antibodies in vitro

P42 Pathogenic mechanisms of RAPSN mutations in congenital myasthenic syndromes

Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes

P60 Shared defective glycosylation pathways link congenital myasthenic syndromes with the dystroglycanopathies

Enhanced expression of MMP-7 and MMP-9 in demyelinating multiple sclerosis lesions

Effect of sera from AChR-antibody negative myasthenia gravis patients on AChR and MuSK in cell cultures

P23 Fluorescent receptors to light up the neuromuscular junction

P33 Impaired neurotransmission in a mouse model of the slow channel congenital myasthenic syndrome is improved by the sympathomimetic drug ephedrine

P.1.6 Investigating collagen VI biosynthesis and assembly in the context of ALG2 impairment in Ullrich/CMS-like family

P35 The spectrum of mutations that underlie the DOK7 neuromuscular junction synaptopathy, and the patient response to treatment

Glial growth factor 2 induces proliferation and structural changes in ensheathing cells

Distinct phenotypes of congenital acetylcholine receptor deficiency

Identification of MMP-18, a Putative Novel Human Matrix Metalloproteinase

P51 Ephedrine treatment in DOK7 CMS and investigation of potential mechanisms

The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder

Matrix metalloproteinase expression during experimental autoimmune encephalomyelitis and effects of a combined matrix metalloproteinase and tumour necrosis factor- α inhibitor

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

Quantitation of matrix metalloproteinases in cultured rat astrocytes using the polymerase chain reaction with a multi-competitor cDNA standard

Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients

Smoothed Particle Hydrodynamics for astrophysical flows

NMJ+C10 - Inhibition of the tyrosine phosphatase Shp2 alleviates the pathogeniceff ects of MuSK antibodies in vitro

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