Literature DB >> 16116135

Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population.

T Zaldívar1, Y Montejo, A M Acevedo, R Guerra, J Vargas, N Garofalo, R Alvarez, M A Alvarez, O Hardiman.   

Abstract

The authors reviewed all cases of type I spinal muscular atrophy (SMA) in Cuba over a 6-year period. The incidence of SMA type I was 3.53 per 100,000 livebirths. When the population was classified according to self-reported ethnicity, the incidence was eight per 100,000 for whites; 0.89 per 100,000 for blacks, and 0.96 per 100,000 for those of mixed ethnicity. Type 1 SMA may occur less frequently in individuals of African ancestry.

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Year:  2005        PMID： 16116135     DOI： 10.1212/01.wnl.0000172860.41953.12

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  9 in total

1.  Spinal muscular atrophy: therapeutic strategies.

Authors:  Diana Castro; Susan T Iannaccone
Journal:  Curr Treat Options Neurol       Date:  2014-11       Impact factor: 3.598

Review 2.  Using Systems Biology and Mathematical Modeling Approaches in the Discovery of Therapeutic Targets for Spinal Muscular Atrophy.

Authors:  Matthew E R Butchbach
Journal:  Adv Neurobiol       Date:  2018

3.  Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?

Authors:  Modibo Sangare; Ilo Dicko; Cheick Oumar Guinto; Adama Sissoko; Kekouta Dembele; Youlouza Coulibaly; Siaka Y Coulibaly; Guida Landoure; Abdallah Diallo; Mamadou Dolo; Housseini Dolo; Boubacar Maiga; Moussa Traore; Mamadou Karembe; Kadiatou Traore; Amadou Toure; Mariam Sylla; Arouna Togora; Souleymane Coulibaly; Sékou Fantamady Traore; Brant Hendrickson; Katherine Bricceno; Alice B Schindler; Angela Kokkinis; Katherine G Meilleur; Hammadoun Ali Sangho; Brehima Diakite; Yaya Kassogue; Yaya Ibrahim Coulibaly; Barrington Burnett; Youssoufa Maiga; Seydou Doumbia; Kenneth H Fischbeck
Journal:  eNeurologicalSci       Date:  2016-01-04

4.  Global, regional, and national burden of motor neuron diseases 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016.

Authors: 
Journal:  Lancet Neurol       Date:  2018-11-05       Impact factor: 44.182

5.  SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR.

Authors:  Deborah L Stabley; Ashlee W Harris; Jennifer Holbrook; Nicholas J Chubbs; Kevin W Lozo; Thomas O Crawford; Kathryn J Swoboda; Vicky L Funanage; Wenlan Wang; William Mackenzie; Mena Scavina; Katia Sol-Church; Matthew E R Butchbach
Journal:  Mol Genet Genomic Med       Date:  2015-03-21       Impact factor: 2.183

6.  Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.

Authors:  Modibo Sangaré; Brant Hendrickson; Hammadoun Ali Sango; Kelian Chen; Jonathan Nofziger; Abdelbasset Amara; Amalia Dutra; Alice B Schindler; Aldiouma Guindo; Mahamadou Traoré; George Harmison; Evgenia Pak; Fatoumata N'Go Yaro; Katherine Bricceno; Christopher Grunseich; Guibin Chen; Manfred Boehm; Kristen Zukosky; Nouhoum Bocoum; Katherine G Meilleur; Fatoumata Daou; Koumba Bagayogo; Yaya Ibrahim Coulibaly; Mahamadou Diakité; Michael P Fay; Hee-Suk Lee; Ali Saad; Moez Gribaa; Andrew B Singleton; Youssoufa Maiga; Sungyoung Auh; Guida Landouré; Rick M Fairhurst; Barrington G Burnett; Thomas Scholl; Kenneth H Fischbeck
Journal:  Ann Neurol       Date:  2014-04-02       Impact factor: 10.422

Review 7.  Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases.

Authors:  Matthew E R Butchbach
Journal:  Front Mol Biosci       Date:  2016-03-10

Review 8.  Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.

Authors:  Ingrid E C Verhaart; Agata Robertson; Ian J Wilson; Annemieke Aartsma-Rus; Shona Cameron; Cynthia C Jones; Suzanne F Cook; Hanns Lochmüller
Journal:  Orphanet J Rare Dis       Date:  2017-07-04       Impact factor: 4.123

Review 9.  Alternative Splicing Role in New Therapies of Spinal Muscular Atrophy.

Authors:  Jan Lejman; Grzegorz Zieliński; Piotr Gawda; Monika Lejman
Journal:  Genes (Basel)       Date:  2021-08-28       Impact factor: 4.096
  9 in total

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