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

[1]  J. Mendell,et al.  Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. , 1997, American journal of human genetics.

[2]  B. Wirth,et al.  Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). , 1997, Human molecular genetics.

[3]  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.

[4]  M. Somerville,et al.  Clinical application of the molecular diagnosis of spinal muscular atrophy: deletions of neuronal apoptosis inhibitor protein and survival motor neuron genes. , 1997, American journal of medical genetics.

[5]  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.

[6]  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.

[7]  K. Morrison Advances in SMA research: Review of gene deletions , 1996, Neuromuscular Disorders.

[8]  J. Melki,et al.  Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I. , 1996, Human molecular genetics.

[9]  B. Wirth,et al.  Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease. , 1996, American journal of human genetics.

[10]  D. Parsons,et al.  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. , 1996, Human molecular genetics.

[11]  J. D. den Dunnen,et al.  Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5. , 1996, American journal of human genetics.

[12]  A. Munnich,et al.  Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. , 1996, The Journal of clinical investigation.

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

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

[15]  A. Munnich,et al.  Structure and organization of the human survival motor neurone (SMN) gene. , 1996, Genomics.

[16]  T. Gilliam,et al.  Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy. , 1996, Human molecular genetics.

[17]  B. Wirth,et al.  Clinical Spectrum and Diagnostic Criteria of Infantile Spinal Muscular Atrophy: Further Delineation on the Basis of SMN Gene Deletion Findings , 1996, Neuropediatrics.

[18]  E. Velasco,et al.  Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype. , 1996, Human molecular genetics.

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

[20]  Y. Jong,et al.  Molecular basis of spinal muscular atrophy in Chinese. , 1995, American journal of human genetics.

[21]  A. Munnich,et al.  A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients , 1995, Nature Genetics.

[22]  B. Wirth,et al.  Genetic basis of adult-onset spinal muscular atrophy , 1995, The Lancet.

[23]  H. Scheffer,et al.  Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. , 1995, American journal of human genetics.

[24]  B. Wirth,et al.  Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. , 1995, Human molecular genetics.

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

[26]  B. Wirth,et al.  Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. , 1995, Human molecular genetics.

[27]  L. Kunkel,et al.  Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. , 1995, Proceedings of the National Academy of Sciences of the United States of America.

[28]  J. Osinga,et al.  PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy , 1995, The Lancet.

[29]  K. Davies,et al.  Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. , 1995, Human molecular genetics.

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

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

[32]  J. Osinga,et al.  A Provisional Transcript Map of the Spinal Muscular Atrophy (SMA) Critical Region , 1995, European journal of human genetics : EJHG.

[33]  T. Crawford,et al.  A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients , 1995, Nature Genetics.

[34]  K. Davies,et al.  Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13. , 1994, American journal of human genetics.

[35]  J. McPherson,et al.  Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. , 1994, American journal of human genetics.

[36]  L. Surh,et al.  Two 5q13 simple tandem repeat loci are in linkage disequilibrium with type 1 spinal muscular atrophy. , 1994, Human molecular genetics.

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

[38]  J. McPherson,et al.  A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene. , 1994, Genomics.

[39]  L. Simard,et al.  Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French-Canadian population. , 1994, Human molecular genetics.

[40]  T. Schaap Werdnig‐Hoffmann disease on Reunion Island: a founder effect? , 1985, Clinical genetics.

[41]  J. Feingold,et al.  Cluster of acute infantile spinal muscular atrophy (Werdnig‐Hoffmann disease) in a limited area of Reunion Island , 1984, Clinical genetics.

[42]  J. Pearn CLASSIFICATION OF SPINAL MUSCULAR ATROPHIES , 1980, The Lancet.

[43]  K. Fried,et al.  High incidence of spinal muscular atrophy type I (Werdnig ‐ Hoffmann disease) in the Karaite community in Israel , 1977, Clinical genetics.

[44]  V. Dubowitz Muscle disorders in childhood. , 1977, Israel journal of medical sciences.