Literature DB >> 8982943

Deletions in the survival motor neuron gene in Turkish spinal muscular atrophy patients.

H Erdem1, S Pehlivan, H Topaloğlu, D Yalnizoğlu, Z Akçören.   

Abstract

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Mesh：

Year:  1996        PMID： 8982943     DOI： 10.1007/bf01799161

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  21 in total

1.  International SMA consortium meeting. (26-28 June 1992, Bonn, Germany).

Authors:  T L Munsat; K E Davies
Journal:  Neuromuscul Disord       Date:  1992       Impact factor: 4.296

2.  Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3.

Authors:  L M Brzustowicz; T Lehner; L H Castilla; G K Penchaszadeh; K C Wilhelmsen; R Daniels; K E Davies; M Leppert; F Ziter; D Wood
Journal:  Nature       Date:  1990-04-05       Impact factor: 49.962

3.  Classification of spinal muscular atrophies.

Authors:  J Pearn
Journal:  Lancet       Date:  1980-04-26       Impact factor: 79.321

4.  PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy.

Authors:  G van der Steege; P M Grootscholten; P van der Vlies; T G Draaijers; J Osinga; J M Cobben; H Scheffer; C H Buys
Journal:  Lancet       Date:  1995-04-15       Impact factor: 79.321

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

Authors:  T G Thompson; C J DiDonato; L R Simard; S E Ingraham; A H Burghes; T O Crawford; C Rochette; J R Mendell; J J Wasmuth
Journal:  Nat Genet       Date:  1995-01       Impact factor: 38.330

6.  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.

Authors:  E Velasco; C Valero; A Valero; F Moreno; C Hernández-Chico
Journal:  Hum Mol Genet       Date:  1996-02       Impact factor: 6.150

7.  The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy.

Authors:  N Roy; M S Mahadevan; M McLean; G Shutler; Z Yaraghi; R Farahani; S Baird; A Besner-Johnston; C Lefebvre; X Kang
Journal:  Cell       Date:  1995-01-13       Impact factor: 41.582

8.  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

9.  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

10.  Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

Authors:  N R Rodrigues; N Owen; K Talbot; J Ignatius; V Dubowitz; K E Davies
Journal:  Hum Mol Genet       Date:  1995-04       Impact factor: 6.150
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