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SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids : SMN2 is unique to Homo sapiens

Human genetics, 2001-03, Vol.108 (3), p.255-266

2001

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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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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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Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA

Neurology, 2007-02, Vol.68 (6), p.451-456

2007

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The Δ>15 Kb deletion French Canadian founder mutation in familial hypercholesterolemia: rapid polymerase chain reaction-based diagnostic assay and prevalence in Quebec

Clinical genetics, 2004-03, Vol.65 (3), p.202-208

2004

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Intragenic complementation at the argininosuccinate lyase locus: Reconstruction of the active site

Journal of inherited metabolic disease, 1998-06, Vol.21 (S1), p.72-85

1998

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Characterization of the survival motor neuron (SMN) promoter provides evidence for complex combinatorial regulation in undifferentiated and differentiated P19 cells

Biochemical journal, 2005-01, Vol.385 (Pt 2), p.433-443

2005

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Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region

Proceedings of the National Academy of Sciences - PNAS, 1990-12, Vol.87 (24), p.9625-9629

1990

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Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene

Genome research, 1997-04, Vol.7 (4), p.339-352

1997

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Development of late Paleozoic volcanic arcs in the Canadian Cordillera: an example from the Klinkit Group, northern British Columbia and southern Yukon

Canadian journal of earth sciences, 2003-07, Vol.40 (7), p.907-924

2003

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The SMN genes are subject to transcriptional regulation during cellular differentiation

Gene, 2001-11, Vol.279 (2), p.109-117

2001

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Molecular cloning of cDNA for rat argininosuccinate lyase and its expression in rat hepatoma cell lines

Molecular and Cellular Biology, 1986-05, Vol.6 (5), p.1722-1728

1986

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Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): Confirmation of close linkage to D5S39 in French Canadian families

Genomics (San Diego, Calif.), 1992-09, Vol.14 (1), p.188-190

1992

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Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development

Human molecular genetics, 2002-07, Vol.11 (14), p.1605-1614

2002

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Complete nucleotide sequence, genomic organization, and promoter analysis of the murine survival motor neuron gene (Smn)

Mammalian genome, 1999-06, Vol.10 (6), p.638-641

1999

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Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7

Neurogenetics, 1997-11, Vol.1 (2), p.141-147

1997

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Genetic and physical mapping of the mouse host resistance locus Lgn1

Mammalian genome, 1997-09, Vol.8 (9), p.682-685

1997

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Clinical and genetic study of chronic (types II and III) childhood onset spinal muscular atrophy

Neuromuscular disorders : NMD, 1996-12, Vol.6 (6), p.419-424

1996

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Alumorphs—Human DNA polymorphisms detected by polymerase chain reaction using Alu-specific primers

Genomics (San Diego, Calif.), 1990-07, Vol.7 (3), p.331-334

1990

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Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French — Canadian population

Human molecular genetics, 1994-03, Vol.3 (3), p.459-463

1994

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The mouse neuronal apoptosis inhibitory protein gene maps to a conserved syntenic region of mouse chromosome 13

Mammalian genome, 1997-03, Vol.8 (3), p.222-222

1997

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Direct analysis of amniotic fluid cells by multiplex PCR provides rapid prenatal diagnosis for Duchenne muscular dystrophy

Nucleic acids research, 1991-05, Vol.19 (9), p.2501-2501

1991

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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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Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec

Human genetics, 1992-06, Vol.89 (4), p.419-424

1992

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Carrier status diagnosis in Duchenne muscular dystrophy with "conformational" DNA polymorphism

The Lancet (British edition), 1992-01, Vol.339 (8785), p.134-134

1992

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SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids : SMN2 is unique to Homo sapiens

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

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

Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA

The Δ>15 Kb deletion French Canadian founder mutation in familial hypercholesterolemia: rapid polymerase chain reaction-based diagnostic assay and prevalence in Quebec

Intragenic complementation at the argininosuccinate lyase locus: Reconstruction of the active site

Characterization of the survival motor neuron (SMN) promoter provides evidence for complex combinatorial regulation in undifferentiated and differentiated P19 cells

Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region

Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene

Development of late Paleozoic volcanic arcs in the Canadian Cordillera: an example from the Klinkit Group, northern British Columbia and southern Yukon

The SMN genes are subject to transcriptional regulation during cellular differentiation

Molecular cloning of cDNA for rat argininosuccinate lyase and its expression in rat hepatoma cell lines

Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): Confirmation of close linkage to D5S39 in French Canadian families

Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development

Complete nucleotide sequence, genomic organization, and promoter analysis of the murine survival motor neuron gene (Smn)

Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7

Genetic and physical mapping of the mouse host resistance locus Lgn1

Clinical and genetic study of chronic (types II and III) childhood onset spinal muscular atrophy

Alumorphs—Human DNA polymorphisms detected by polymerase chain reaction using Alu-specific primers

Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French — Canadian population

The mouse neuronal apoptosis inhibitory protein gene maps to a conserved syntenic region of mouse chromosome 13

Direct analysis of amniotic fluid cells by multiplex PCR provides rapid prenatal diagnosis for Duchenne muscular dystrophy

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

Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec

Carrier status diagnosis in Duchenne muscular dystrophy with "conformational" DNA polymorphism

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