Literature DB >> 8533782

Molecular basis of spinal muscular atrophy in Chinese.

J G Chang, Y J Jong, J M Huang, W S Wang, T Y Yang, C P Chang, Y J Chen, S P Lin.   

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Year:  1995        PMID： 8533782      PMCID： PMC1801417     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  12 in total

1.  Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.

Authors:  M Orita; Y Suzuki; T Sekiya; K Hayashi
Journal:  Genomics       Date:  1989-11       Impact factor: 5.736

2.  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

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.  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

5.  The genetic component in child mortality.

Authors:  D F Roberts; J Chavez; S D Court
Journal:  Arch Dis Child       Date:  1970-02       Impact factor: 3.791

6.  The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England.

Authors:  J H Pearn
Journal:  J Med Genet       Date:  1973-09       Impact factor: 6.318

7.  'Cold SSCP': a simple, rapid and non-radioactive method for optimized single-strand conformation polymorphism analyses.

Authors:  T Hongyo; G S Buzard; R J Calvert; C M Weghorst
Journal:  Nucleic Acids Res       Date:  1993-08-11       Impact factor: 16.971

8.  Molecular basis and haematological characterization of beta-thalassaemia major in Taiwan, with a mutation of IVS-1 3' end TAG-->GAG in a Chinese patient.

Authors:  S S Chiou; T T Chang; P H Chen; L S Lee; T S Chen; J G Chang
Journal:  Br J Haematol       Date:  1993-01       Impact factor: 6.998

9.  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

10.  A genetic study of subacute and chronic spinal muscular atrophy in childhood. A nosological analysis of 124 index patients.

Authors:  J Pearn; S Bundley; C O Carter; J Wilson; D Gardner-Medwin; J N Walton
Journal:  J Neurol Sci       Date:  1978-07       Impact factor: 3.181
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  12 in total

1.  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

2.  De novo deletions in spinal muscular atrophy: implications for genetic counselling.

Authors:  V Raclin; P S Veber; L Bürglen; A Munnich; J Melki
Journal:  J Med Genet       Date:  1997-01       Impact factor: 6.318

3.  Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

Authors:  L Bürglen; J Amiel; L Viollet; S Lefebvre; P Burlet; O Clermont; V Raclin; P Landrieu; A Verloes; A Munnich; J Melki
Journal:  J Clin Invest       Date:  1996-09-01       Impact factor: 14.808

4.  Treatment of spinal muscular atrophy by sodium butyrate.

Authors:  J G Chang; H M Hsieh-Li; Y J Jong; N M Wang; C H Tsai; H Li
Journal:  Proc Natl Acad Sci U S A       Date:  2001-08-14       Impact factor: 11.205

5.  Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.

Authors:  B Wirth; M Herz; A Wetter; S Moskau; E Hahnen; S Rudnik-Schöneborn; T Wienker; K Zerres
Journal:  Am J Hum Genet       Date:  1999-05       Impact factor: 11.025

6.  Mapping of the bovine spinal muscular atrophy locus to Chromosome 24.

Authors:  Ivica Medugorac; Juliane Kemter; Ingolf Russ; Detlef Pietrowski; Stefan Nüske; Horst-Dieter Reichenbach; Wolfgang Schmahl; Martin Förster
Journal:  Mamm Genome       Date:  2003-06       Impact factor: 2.957

7.  Deletion analysis of SMN1 and NAIP genes in Southern Chinese children with spinal muscular atrophy.

Authors:  Yu-hua Liang; Xiao-ling Chen; Zhong-sheng Yu; Chun-yue Chen; Sheng Bi; Lian-gen Mao; Bo-lin Zhou; Xian-ning Zhang
Journal:  J Zhejiang Univ Sci B       Date:  2009-01       Impact factor: 3.066

8.  Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems.

Authors:  B Charroux; L Pellizzoni; R A Perkinson; A Shevchenko; M Mann; G Dreyfuss
Journal:  J Cell Biol       Date:  1999-12-13       Impact factor: 10.539

9.  Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy.

Authors:  Y Sifi; K Sifi; A Boulefkhad; N Abadi; Z Bouderda; R Cheriet; M Magen; J P Bonnefont; A Munnich; C Benlatreche; A Hamri
Journal:  J Neurodegener Dis       Date:  2013-03-24

10.  Deletion analysis of SMN and NAIP genes in Tunisian patients with spinal muscular atrophy.

Authors:  Imen Rekik; Amir Boukhris; Sourour Ketata; Mohamed Amri; Nourhene Essid; Imed Feki; Chokri Mhiri
Journal:  Ann Indian Acad Neurol       Date:  2013-01       Impact factor: 1.383
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