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Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

The New England journal of medicine, 2017-11, Vol.377 (18), p.1713-1722

2017

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Temporal requirement for high SMN expression in SMA mice

Human molecular genetics, 2011-09, Vol.20 (18), p.3578-3591

2011

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A Single Nucleotide Difference That Alters Splicing Patterns Distinguishes the SMA Gene SMN1 From the Copy Gene SMN2

Human molecular genetics, 1999-07, Vol.8 (7), p.1177-1183

1999

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The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy

Human molecular genetics, 2000-02, Vol.9 (3), p.333-339

2000

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SMN oligomerization defect correlates with spinal muscular atrophy severity

Nature genetics, 1998-05, Vol.19 (1), p.63-66

1998

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The Survival Motor Neuron Protein in Spinal Muscular Atrophy

Human molecular genetics, 1997-08, Vol.6 (8), p.1205-1214

1997

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Frame-Shift Deletions in Patients with Duchenne and Becker Muscular Dystrophy

Science (American Association for the Advancement of Science), 1988-11, Vol.242 (4879), p.755-759

1988

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Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

American journal of human genetics, 1997-06, Vol.60 (6), p.1411-1422

1997

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The survival motor neuron (SMN) protein: effect of exon loss and mutation on protein localization

Neurogenetics, 2000-09, Vol.3 (1), p.7-16

2000

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Expression of the survival of motor neuron (SMN) gene in primary neurons and increase in SMN levels by activation of the N-methyl-D-aspartate glutamate receptor

Neurogenetics, 2002-03, Vol.4 (1), p.29-36

2002

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Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene

American journal of human genetics, 1989-10, Vol.45 (4), p.507-520

1989

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Spinal muscular atrophy: Where does survival motor neuron (SMN) protein live these days?

Neuromuscular disorders : NMD, 2008-02, Vol.18 (2), p.189-190

2008

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Myoblast Transfer in the Treatment of Duchenne's Muscular Dystrophy

The New England journal of medicine, 1995-09, Vol.333 (13), p.832-838

1995

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Identification of Survival Motor Neuron as a Transcriptional Activator-Binding Protein

Human molecular genetics, 1999-07, Vol.8 (7), p.1219-1226

1999

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An 11 Base Pair Duplication in Exon 6 of the SMN Gene Produces a Type I Spinal Muscular Atrophy (SMA) Phenotype: Further Evidence For SMN as the Primary SMA-Determining Gene

Human molecular genetics, 1996-11, Vol.5 (11), p.1727-1732

1996

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The problem of Duchenne muscular dystrophy

Philosophical transactions of the Royal Society of London. Series B. Biological sciences, 1988-06, Vol.319 (1194), p.275

1988

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Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity?

Annals of neurology, 1997-02, Vol.41 (2), p.230-237

1997

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The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle

Nature (London), 1988-06, Vol.333 (6172), p.466-469

1988

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Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs

Human molecular genetics, 1995-08, Vol.4 (8), p.1273-1284

1995

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DAX1 Mutations Map to Putative Structural Domains in a Deduced Three-Dimensional Model

American journal of human genetics, 1998-04, Vol.62 (4), p.855-864

1998

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Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy : mechanisms of dystrophin production

American journal of human genetics, 1995, Vol.56 (1), p.158-166

1995

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Spectrum of small mutations in the dystrophin coding region

American journal of human genetics, 1995-07, Vol.57 (1), p.22-33

1995

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A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients

Nature genetics, 1995-01, Vol.9 (1), p.56-62

1995

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Somatic reversion/suppression in Duchenne muscular dystrophy (DMD) : evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers

American journal of human genetics, 1992-05, Vol.50 (5), p.950-959

1992

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Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis

Journal of medical genetics, 1998-08, Vol.35 (8), p.674-676

1998

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Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

Temporal requirement for high SMN expression in SMA mice

A Single Nucleotide Difference That Alters Splicing Patterns Distinguishes the SMA Gene SMN1 From the Copy Gene SMN2

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy

SMN oligomerization defect correlates with spinal muscular atrophy severity

The Survival Motor Neuron Protein in Spinal Muscular Atrophy

Frame-Shift Deletions in Patients with Duchenne and Becker Muscular Dystrophy

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

The survival motor neuron (SMN) protein: effect of exon loss and mutation on protein localization

Expression of the survival of motor neuron (SMN) gene in primary neurons and increase in SMN levels by activation of the N-methyl-D-aspartate glutamate receptor

Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene

Spinal muscular atrophy: Where does survival motor neuron (SMN) protein live these days?

Myoblast Transfer in the Treatment of Duchenne's Muscular Dystrophy

Identification of Survival Motor Neuron as a Transcriptional Activator-Binding Protein

An 11 Base Pair Duplication in Exon 6 of the SMN Gene Produces a Type I Spinal Muscular Atrophy (SMA) Phenotype: Further Evidence For SMN as the Primary SMA-Determining Gene

The problem of Duchenne muscular dystrophy

Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity?

The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs

DAX1 Mutations Map to Putative Structural Domains in a Deduced Three-Dimensional Model

Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy : mechanisms of dystrophin production

Spectrum of small mutations in the dystrophin coding region

A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients

Somatic reversion/suppression in Duchenne muscular dystrophy (DMD) : evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers

Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis

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