Identification and characterization of a mouse homologue of the spinal muscular atrophy-determining gene, survival motor neuron.

[1]  J. Nadeau,et al.  Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene. , 1997, Genome research.

[2]  C. Ponting,et al.  Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism? , 1997, Human molecular genetics.

[3]  A. Munnich,et al.  cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn). , 1997, Genomics.

[4]  A. Munnich,et al.  The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease. , 1997, American journal of human genetics.

[5]  G. Dreyfuss,et al.  A novel nuclear structure containing the survival of motor neurons protein. , 1996, The EMBO journal.

[6]  A. Munnich,et al.  Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. , 1996, Journal of medical genetics.

[7]  K. Davies,et al.  Gene deletions in spinal muscular atrophy. , 1996, Journal of medical genetics.

[8]  Arnold Munnich,et al.  SMN gene deletions in adult-onset spinal muscular atrophy , 1995, The Lancet.

[9]  P. Tonali,et al.  Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy , 1995, The Lancet.

[10]  B. Dallapiccola,et al.  Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. , 1995, Biochemical and biophysical research communications.

[11]  T. Crawford,et al.  The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy , 1995, Cell.

[12]  J. Weissenbach,et al.  Identification and characterization of a spinal muscular atrophy-determining gene , 1995, Cell.

[13]  D. Le Paslier,et al.  De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. , 1994, Science.

[14]  T. Munsat,et al.  International SMA Consortium Meeting (26–28 June 1992, Bonn, Germany) , 1992, Neuromuscular Disorders.

[15]  T. Munsat.  International SMA Collaboration , 1991, Neuromuscular Disorders.

[16]  M. Lathrop,et al.  Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14 , 1990, The Lancet.

[17]  T. Lehner,et al.  Genetic homogeneity between acute and chronic forms of spinal muscular atrophy , 1990, Nature.

[18]  M. Lathrop,et al.  Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q , 1990, Nature.

[19]  M. Leppert,et al.  Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3 , 1990, Nature.

[20]  G. Church,et al.  Genomic sequencing. , 1993, Methods in molecular biology.

[21]  P. Huttenlocher,et al.  A comparison with the axonal reaction , 1966, Neurology.