Literature DB >> 10384397

Molecular study of spinal muscular atrophy patients with hybrid genes in Bulgaria.

I Kremensky1, S Jankova, E Bochukova, M Uzunova, I Litvinenko, A Jordanova.   

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Year:  1999        PMID： 10384397     DOI： 10.1023/a:1005512306358

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


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  10 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.  Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.

Authors:  E Hahnen; J Schönling; S Rudnik-Schöneborn; K Zerres; B Wirth
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

3.  Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q.

Authors:  J Melki; S Abdelhak; P Sheth; M F Bachelot; P Burlet; A Marcadet; J Aicardi; A Barois; J P Carriere; M Fardeau
Journal:  Nature       Date:  1990-04-19       Impact factor: 49.962

4.  Deletion analysis of Bulgarian SMA families.

Authors:  A Jordanova; V Stoyanova; M Uzunova; I Litvinenko; I Kremensky
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

5.  Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity?

Authors:  C J DiDonato; S E Ingraham; J R Mendell; T W Prior; S Lenard; R T Moxley; J Florence; A H Burghes
Journal:  Ann Neurol       Date:  1997-02       Impact factor: 10.422

6.  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

7.  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

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.  Genetic homogeneity between acute and chronic forms of spinal muscular atrophy.

Authors:  T C Gilliam; L M Brzustowicz; L H Castilla; T Lehner; G K Penchaszadeh; R J Daniels; B C Byth; J Knowles; J E Hislop; Y Shapira
Journal:  Nature       Date:  1990-06-28       Impact factor: 49.962
  10 in total

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