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Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy

Neurology, 2010-03, Vol.74 (10), p.833-838

2010

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Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation

Neurology, 2009-08, Vol.73 (5), p.400-401

2009

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Progression of spinal deformity in wheelchair-dependent patients with Duchenne muscular dystrophy who are not treated with steroids: coronal plane (scoliosis) and sagittal plane (kyphosis, lordosis) deformity

The bone & joint journal, 2014-01, Vol.96-B (1), p.100-105

2014

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Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation

Neurology, 2007-04, Vol.68 (16), p.1305-1307

2007

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XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease

Clinical genetics, 2003-07, Vol.64 (1), p.70-73

2003

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Electrical impedance myography for the assessment of children with muscular dystrophy: a preliminary study

Journal of physics. Conference series, 2013-01, Vol.434 (1), p.12069-4

2013

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A novel mutation in two families with limb-girdle muscular dystrophy type 2C

Neurology, 2006-07, Vol.67 (1), p.167-169

2006

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S12 Onasemnogene abeparvovec gene therapy for spinal muscular atrophy type 1: phase 3 study (STR1VE-US)

Thorax, 2021-02, Vol.76 (Suppl 1), p.A10-A11

2021

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S61 Onasemnogene abeparvovec gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): preliminary pulmonary and ventilatory findings from the phase 3 study (STR1VE)

Thorax, 2019-12, Vol.74 (Suppl 2), p.A42

2019

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Metabolic myopathies: a clinical approach; part I

Pediatric Neurology, 2000-02, Vol.22 (2), p.87-97

2000

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Safety and Efficacy of Carvedilol Therapy for Patients with Dilated Cardiomyopathy Secondary to Muscular Dystrophy

Pediatric cardiology, 2008-03, Vol.29 (2), p.343-351

2008

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B.01 AVXS-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): pivotal phase 3 study (STR1VE) update

Canadian journal of neurological sciences, 2019-06, Vol.46 (s1), p.S10-S10

2019

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Primary γ-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile

Neuromuscular disorders : NMD, 2002-03, Vol.12 (3), p.273-280

2002

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Metabolic myopathies: a clinical approach; part II

Pediatric neurology, 2000-03, Vol.22 (3), p.171-181

2000

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Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome

Genetics in medicine, 2006-05, Vol.8 (5), p.289-296

2006

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X-linked myotubular myopathy: A prospective international natural history study

Neurology, 2019-04, Vol.92 (16), p.e1852

2019

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Neuromuscular Disorders in the Newborn

Clinics in perinatology, 1997-12, Vol.24 (4), p.827-844

Darras, Basil T.

1997

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Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations

American journal of human genetics, 1988-11, Vol.43 (5), p.620-629

1988

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A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

Nature (London), 1987-10, Vol.329 (6139), p.556-558

1987

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Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA

American journal of human genetics, 1988-11, Vol.43 (5), p.612-619

1988

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Atypical presentations of spinal muscular atrophy type III (Kugelberg–Welander disease)

Neuromuscular disorders : NMD, 2006-08, Vol.16 (8), p.492-494

2006

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Assignment of human genes for phosphorylase kinase subunits α (PHKA) to Xq12-q13 and β (PHKB) to 16q12-q13

American journal of human genetics, 1989-08, Vol.45 (2), p.276-282

1989

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A Mutation in the Alpha 3 Chain of type IX Collagen Causes Autosomal Dominant Multiple Epiphyseal Dysplasia with Mild Myopathy

Proceedings of the National Academy of Sciences - PNAS, 2000-02, Vol.97 (3), p.1212-1217

2000

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Assessing spinal muscular atrophy with quantitative ultrasound

Neurology, 2010-08, Vol.75 (6), p.526-531

2010

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Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy

Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation

Progression of spinal deformity in wheelchair-dependent patients with Duchenne muscular dystrophy who are not treated with steroids: coronal plane (scoliosis) and sagittal plane (kyphosis, lordosis) deformity

Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation

XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease

Electrical impedance myography for the assessment of children with muscular dystrophy: a preliminary study

A novel mutation in two families with limb-girdle muscular dystrophy type 2C

S12 Onasemnogene abeparvovec gene therapy for spinal muscular atrophy type 1: phase 3 study (STR1VE-US)

S61 Onasemnogene abeparvovec gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): preliminary pulmonary and ventilatory findings from the phase 3 study (STR1VE)

Metabolic myopathies: a clinical approach; part I

Safety and Efficacy of Carvedilol Therapy for Patients with Dilated Cardiomyopathy Secondary to Muscular Dystrophy

B.01 AVXS-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): pivotal phase 3 study (STR1VE) update

Primary γ-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile

Metabolic myopathies: a clinical approach; part II

Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome

X-linked myotubular myopathy: A prospective international natural history study

Neuromuscular Disorders in the Newborn

Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations

Prospective cohort study of spinal muscular atrophy types 2 and 3

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA

Atypical presentations of spinal muscular atrophy type III (Kugelberg–Welander disease)

Assignment of human genes for phosphorylase kinase subunits α (PHKA) to Xq12-q13 and β (PHKB) to 16q12-q13

A Mutation in the Alpha 3 Chain of type IX Collagen Causes Autosomal Dominant Multiple Epiphyseal Dysplasia with Mild Myopathy

Assessing spinal muscular atrophy with quantitative ultrasound

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