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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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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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Valproic acid increases SMN levels in spinal muscular atrophy patient cells

Annals of neurology, 2003-11, Vol.54 (5), p.647-654

2003

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Dystrophin glycoprotein complex dysfunction: A regulatory link between muscular dystrophy and cancer cachexia

Cancer cell, 2005-11, Vol.8 (5), p.421-432

2005

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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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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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When Is a Deletion Not a Deletion? When It Is Converted

American journal of human genetics, 1997-07, Vol.61 (1), p.9-15

Burghes, Arthur H.M.

1997

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A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells

Experimental cell research, 2005-09, Vol.309 (1), p.185-197

2005

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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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Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2

Genetics in medicine, 2002-01, Vol.4 (1), p.20-26

2002

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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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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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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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Animal models of spinal muscular atrophy

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

2000

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Identification of a Novel Cyclic AMP-response Element (CRE-II) and the Role of CREB-1 in the cAMP-induced Expression of the Survival Motor Neuron (SMN) Gene

The Journal of biological chemistry, 2004-04, Vol.279 (15), p.14803-14811

2004

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Nuclear Gems and Cajal (Coiled) Bodies in Fetal Tissues: Nucleolar Distribution of the Spinal Muscular Atrophy Protein, SMN

Experimental cell research, 2001-05, Vol.265 (2), p.252-261

2001

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Intragenic telSMN Mutations: Frequency, Distribution, Evidence of a Founder Effect, and Modification of the Spinal Muscular Atrophy Phenotype by cenSMN Copy Number

American journal of human genetics, 1998-12, Vol.63 (6), p.1712-1723

1998

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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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Genetics. The land between Mendelian and multifactorial inheritance

Science (American Association for the Advancement of Science), 2001-09, Vol.293 (5538), p.2213-2214

2001

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The Land between Mendelian and Multifactorial Inheritance

Science (American Association for the Advancement of Science), 2001-09, Vol.293 (5538), p.2213-2214

2001

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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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The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding

Human molecular genetics, 2000-11, Vol.9 (19), p.2869-2877

2000

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

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

Valproic acid increases SMN levels in spinal muscular atrophy patient cells

Dystrophin glycoprotein complex dysfunction: A regulatory link between muscular dystrophy and cancer cachexia

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

Spectrum of small mutations in the dystrophin coding region

When Is a Deletion Not a Deletion? When It Is Converted

A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells

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

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2

SMN oligomerization defect correlates with spinal muscular atrophy severity

The Survival Motor Neuron Protein in Spinal Muscular Atrophy

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

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

Animal models of spinal muscular atrophy

Identification of a Novel Cyclic AMP-response Element (CRE-II) and the Role of CREB-1 in the cAMP-induced Expression of the Survival Motor Neuron (SMN) Gene

Nuclear Gems and Cajal (Coiled) Bodies in Fetal Tissues: Nucleolar Distribution of the Spinal Muscular Atrophy Protein, SMN

Intragenic telSMN Mutations: Frequency, Distribution, Evidence of a Founder Effect, and Modification of the Spinal Muscular Atrophy Phenotype by cenSMN Copy Number

Myoblast Transfer in the Treatment of Duchenne's Muscular Dystrophy

Genetics. The land between Mendelian and multifactorial inheritance

The Land between Mendelian and Multifactorial Inheritance

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

The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding

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