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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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Animal models of spinal muscular atrophy

Human molecular genetics, 2000-10, Vol.9 (16), p.2451-2457

2000

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Smn, the Spinal Muscular Atrophy-Determining Gene Product, Modulates Axon Growth and Localization of β-Actin mRNA in Growth Cones of Motoneurons

The Journal of cell biology, 2003-11, Vol.163 (4), p.801-812

2003

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Knockdown of the Survival Motor Neuron (Smn) Protein in Zebrafish Causes Defects in Motor Axon Outgrowth and Pathfinding

The Journal of cell biology, 2003-09, Vol.162 (5), p.919-931

2003

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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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Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

Human molecular genetics, 2001-11, Vol.10 (24), p.2841-2849

2001

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A Transgene Carrying an A2G Missense Mutation in the SMN Gene Modulates Phenotypic Severity in Mice with Severe (Type I) Spinal Muscular Atrophy

The Journal of cell biology, 2003-01, Vol.160 (1), p.41-52

2003

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Spinal Muscular Atrophy: A Deficiency in a Ubiquitous Protein; a Motor Neuron-Specific Disease

Neuron (Cambridge, Mass.), 2005-12, Vol.48 (6), p.885-895

Monani, Umrao R.

2005

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Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

Human molecular genetics, 2008-04, Vol.17 (8), p.1063-1075

2008

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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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SMN delta 7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

Human molecular genetics, 2005-03, Vol.14 (6), p.845-857

2005

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Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMN C and SMN T)

Biochimica et biophysica acta, 1999-06, Vol.1445 (3), p.330-336

1999

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Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy

The Journal of clinical investigation, 2004-12, Vol.114 (12), p.1726-1731

2004

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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, 2007-11, Vol.16 (21), p.2648-2648

2007

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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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The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn super(-/-) 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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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

Animal models of spinal muscular atrophy

Smn, the Spinal Muscular Atrophy-Determining Gene Product, Modulates Axon Growth and Localization of β-Actin mRNA in Growth Cones of Motoneurons

Knockdown of the Survival Motor Neuron (Smn) Protein in Zebrafish Causes Defects in Motor Axon Outgrowth and Pathfinding

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

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

A Transgene Carrying an A2G Missense Mutation in the SMN Gene Modulates Phenotypic Severity in Mice with Severe (Type I) Spinal Muscular Atrophy

Spinal Muscular Atrophy: A Deficiency in a Ubiquitous Protein; a Motor Neuron-Specific Disease

Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

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

SMN delta 7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMN C and SMN T)

Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy

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

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

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

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