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Pediatric optic neuritis: brain MRI abnormalities and risk of multiple sclerosis

Neurology, 2009-03, Vol.72 (10), p.881-885

2009

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CAT-1004, an oral agent targeting NF-kB: MoveDMD trial results in Duchenne muscular dystrophy (DMD)

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S157-S157

2016

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Mega-corpus callosum, polymicrogyria, and psychomotor retardation: confirmation of a syndromic entity

Neuropediatrics, 2008-04, Vol.39 (2), p.123-127

2008

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Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance

Human mutation, 2008-06, Vol.29 (6), p.809-822

2008

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Should motor function determine the timing of scoliosis surgery in spinal muscular atrophy?

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S104-S104

2016

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G.P.99

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.824-825

2014

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Genetic polymorphisms modify intramuscular fat infiltration in Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S254-S255

2015

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P.4.9 Variable clinical and histological features in severe congenital RYR1 associated myopathy

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.762-762

2013

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Neuregulin Signaling through a PI3K/Akt/Bad Pathway in Schwann Cell Survival

Molecular and cellular neuroscience, 2001-04, Vol.17 (4), p.761-767

2001

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P3.48 Exome sequencing with linkage analysis identifies a novel ACTA1 variant in a large family with progressive muscle weakness

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.696-697

2011

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DMD – THERAPY: P.282 Edasalonexent treatment in young boys with Duchenne muscular dystrophy is associated with age-normative growth and normal adrenal function

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S129-S129

2020

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DMD – THERAPY

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S129

2020

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A Role for Pak Protein Kinases in Schwann Cell Transformation

Proceedings of the National Academy of Sciences - PNAS, 1998-04, Vol.95 (9), p.5139-5144

1998

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Neurofibromatosis type 1 I. General overview

Journal of neuroscience research, 2000-12, Vol.62 (6), p.755-763

2000

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Schwann cell-conditioned medium promotes neuroblastoma survival and differentiation

Cancer research (Chicago, Ill.), 1998-10, Vol.58 (20), p.4602-4606

1998

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Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2016-08, Vol.26 (8), p.473-480

2016

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CONGENITAL MYOPATHIES 1 – NEMALINE

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S53

2020

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CONGENITAL MYOPATHIES 1 – NEMALINE: P.19 ACTA1-related myopathies: expanding the phenotype to include recognizable asymmetries of muscle involvement

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S53-S53

2020

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SMA – THERAPY: P.255 One-time administration of AVXS-101 intrathecal (IT) for spinal muscular atrophy in the phase 1 study (STRONG): safety report

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S120-S120

2020

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SMA – THERAPY

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S120

2020

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Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2017-04, Vol.27 (4), p.307-314

2017

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Purification and expansion of human Schwann cells in vitro

Nature medicine, 1995-01, Vol.1 (1), p.80-83

1995

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DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY: P.305Disease progression in arm versus leg muscles in Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S123-S123

2018

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DUCHENNE MUSCULAR DYSTROPHY – IMAGING AND BIOMARKERS

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S41

2018

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DUCHENNE MUSCULAR DYSTROPHY – IMAGING AND BIOMARKERS: P.34MR biomarkers in imaging DMD clinical trial network

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S41-S41

2018

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Pediatric optic neuritis: brain MRI abnormalities and risk of multiple sclerosis

CAT-1004, an oral agent targeting NF-kB: MoveDMD trial results in Duchenne muscular dystrophy (DMD)

Mega-corpus callosum, polymicrogyria, and psychomotor retardation: confirmation of a syndromic entity

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance

Should motor function determine the timing of scoliosis surgery in spinal muscular atrophy?

G.P.99

Genetic polymorphisms modify intramuscular fat infiltration in Duchenne muscular dystrophy

P.4.9 Variable clinical and histological features in severe congenital RYR1 associated myopathy

Neuregulin Signaling through a PI3K/Akt/Bad Pathway in Schwann Cell Survival

P3.48 Exome sequencing with linkage analysis identifies a novel ACTA1 variant in a large family with progressive muscle weakness

DMD – THERAPY: P.282 Edasalonexent treatment in young boys with Duchenne muscular dystrophy is associated with age-normative growth and normal adrenal function

DMD – THERAPY

A Role for Pak Protein Kinases in Schwann Cell Transformation

Neurofibromatosis type 1 I. General overview

Schwann cell-conditioned medium promotes neuroblastoma survival and differentiation

Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

CONGENITAL MYOPATHIES 1 – NEMALINE

CONGENITAL MYOPATHIES 1 – NEMALINE: P.19 ACTA1-related myopathies: expanding the phenotype to include recognizable asymmetries of muscle involvement

SMA – THERAPY: P.255 One-time administration of AVXS-101 intrathecal (IT) for spinal muscular atrophy in the phase 1 study (STRONG): safety report

SMA – THERAPY

Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophy

Purification and expansion of human Schwann cells in vitro

DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY: P.305Disease progression in arm versus leg muscles in Duchenne muscular dystrophy

DUCHENNE MUSCULAR DYSTROPHY – IMAGING AND BIOMARKERS

DUCHENNE MUSCULAR DYSTROPHY – IMAGING AND BIOMARKERS: P.34MR biomarkers in imaging DMD clinical trial network

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