Literature DB >> 8827710

Molecular genetics of autosomal recessive spinal muscular atrophy.

N R Rodrigues1, K Talbot, K E Davies.   

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Year:  1996        PMID： 8827710      PMCID： PMC2230174     

Source DB:  PubMed          Journal:  Mol Med        ISSN： 1076-1551            Impact factor:   6.354


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  35 in total

1.  Clinical and genetic heterogeneity in spinal muscular atrophy--the multiple allele model.

Authors:  A E Emery
Journal:  Neuromuscul Disord       Date:  1991       Impact factor: 4.296

2.  Gene deletions in spinal muscular atrophy.

Authors:  N R Rodrigues; N Owen; K Talbot; S Patel; F Muntoni; J Ignatius; V Dubowitz; K E Davies
Journal:  J Med Genet       Date:  1996-02       Impact factor: 6.318

3.  A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13.

Authors:  M J Francis; K E Morrison; L Campbell; P K Grewal; Z Christodoulou; R J Daniels; A P Monaco; A M Frischauf; J McPherson; J Wasmuth
Journal:  Hum Mol Genet       Date:  1993-08       Impact factor: 6.150

4.  A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene.

Authors:  A H Burghes; S E Ingraham; M McLean; T G Thompson; J D McPherson; Z Kote-Jarai; J D Carpten; C J DiDonato; J E Ikeda; L Surh
Journal:  Genomics       Date:  1994-05-15       Impact factor: 5.736

5.  Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy.

Authors:  C J DiDonato; K Morgan; J D Carpten; P Fuerst; S E Ingraham; G Prescott; J D McPherson; B Wirth; K Zerres; O Hurko
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

6.  Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy.

Authors:  C H Wang; J Xu; T A Carter; B M Ross; M K Dominski; C A Bellcross; G K Penchaszadeh; T L Munsat; T C Gilliam
Journal:  Hum Mol Genet       Date:  1996-03       Impact factor: 6.150

7.  Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13.

Authors:  A M Theodosiou; K E Morrison; A M Nesbit; R J Daniels; L Campbell; M J Francis; Z Christodoulou; K E Davies
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

8.  Identification and characterization of a spinal muscular atrophy-determining gene.

Authors:  S Lefebvre; L Bürglen; S Reboullet; O Clermont; P Burlet; L Viollet; B Benichou; C Cruaud; P Millasseau; M Zeviani
Journal:  Cell       Date:  1995-01-13       Impact factor: 41.582

9.  De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.

Authors:  J Melki; S Lefebvre; L Burglen; P Burlet; O Clermont; P Millasseau; S Reboullet; B Bénichou; M Zeviani; D Le Paslier
Journal:  Science       Date:  1994-06-03       Impact factor: 47.728

10.  Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators.

Authors:  J Melki; P Sheth; S Abdelhak; P Burlet; M F Bachelot; M G Lathrop; J Frezal; A Munnich
Journal:  Lancet       Date:  1990-08-04       Impact factor: 79.321
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