Literature DB >> 23142947

Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia.

Guida Landouré, Fanny Mochel, Katherine Meilleur, Madani Ly, Modibo Sangaré, Nouhoum Bocoum, Koumba Bagayoko, Thomas Coulibaly, Amadou M Sarr, Hamidou O Bâ, Souleymane Coulibaly, Cheick O Guinto, Mahamadou Touré, Moussa Traoré, Kenneth H Fischbeck.   

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Year:  2012        PMID： 23142947      PMCID： PMC3566581          DOI： 10.1007/s00415-012-6738-5

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  12 in total

1.  Amino acid substitution matrices from protein blocks.

Authors:  S Henikoff; J G Henikoff
Journal:  Proc Natl Acad Sci U S A       Date:  1992-11-15       Impact factor: 11.205

2.  [Primary immunodeficiency in Tunisia: study of 152 cases].

Authors:  M Bejaoui; M R Barbouche; A Sassi; B Larguche; N Miladi; A Bouguerra; K Dellagi
Journal:  Arch Pediatr       Date:  1997-09       Impact factor: 1.180

3.  Ataxia-telangiectasia in a South African Bantu child.

Authors:  L A Wagstaff; R Joffe
Journal:  S Afr Med J       Date:  1969-05-24

4.  New mutations in the ATM gene and clinical data of 25 AT patients.

Authors:  Ilja Demuth; Véronique Dutrannoy; Wilson Marques; Heidemarie Neitzel; Detlev Schindler; Petja S Dimova; Krystyna H Chrzanowska; Veneta Bojinova; Hanna Gregorek; Luitgard M Graul-Neumann; Arpad von Moers; Ilka Schulze; Marion Nicke; Elcin Bora; Tufan Cankaya; Éva Oláh; Csongor Kiss; Beáta Bessenyei; Katalin Szakszon; Ursula Gruber-Sedlmayr; Peter Michael Kroisel; Sigrun Sodia; Timm O Goecke; Thilo Dörk; Martin Digweed; Karl Sperling; Joaquim de Sá; Charles Marques Lourenco; Raymonda Varon
Journal:  Neurogenetics       Date:  2011-10-02       Impact factor: 2.660

Review 5.  [Clinical, biological and genetic study of 24 patients with ataxia telangiectasia from southern Tunisia].

Authors:  C Triki; I Feki; M Meziou; H Turki; A Zahaf; C Mhiri
Journal:  Rev Neurol (Paris)       Date:  2000-07       Impact factor: 2.607

6.  Hereditary neurodegenerative disorders in Nigerian Africans.

Authors:  A B Aiyesimoju; B O Osuntokun; O Bademosi; A O Adeuja
Journal:  Neurology       Date:  1984-03       Impact factor: 9.910

7.  Disorders of B cells and helper T cells in the pathogenesis of the immunoglobulin deficiency of patients with ataxia telangiectasia.

Authors:  T A Waldmann; S Broder; C K Goldman; K Frost; S J Korsmeyer; M A Medici
Journal:  J Clin Invest       Date:  1983-02       Impact factor: 14.808

8.  A single ataxia telangiectasia gene with a product similar to PI-3 kinase.

Authors:  K Savitsky; A Bar-Shira; S Gilad; G Rotman; Y Ziv; L Vanagaite; D A Tagle; S Smith; T Uziel; S Sfez; M Ashkenazi; I Pecker; M Frydman; R Harnik; S R Patanjali; A Simmons; G A Clines; A Sartiel; R A Gatti; L Chessa; O Sanal; M F Lavin; N G Jaspers; A M Taylor; C F Arlett; T Miki; S M Weissman; M Lovett; F S Collins; Y Shiloh
Journal:  Science       Date:  1995-06-23       Impact factor: 47.728

9.  Incidence of cancer in 161 families affected by ataxia-telangiectasia.

Authors:  M Swift; D Morrell; R B Massey; C L Chase
Journal:  N Engl J Med       Date:  1991-12-26       Impact factor: 91.245

10.  Prevalence and pattern of spinocerebellar degenerations in northeastern Libya.

Authors:  R Sridharan; K Radhakrishnan; P P Ashok; M E Mousa
Journal:  Brain       Date:  1985-12       Impact factor: 13.501
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  5 in total

1.  [Clinical and laboratory features of recessive Limb Girdle Muscular dystrophies in the Department Neurology of University Hospital of Point G].

Authors:  Th Coulibaly; A J Ouabo; G Landouré; H O Bah; L Cissé; S H Diallo; S Diallo; O Samassékou; A B Maïga; F Kané; A Yalcouyé; A Taméga; A Bocoum; M E Dembélé; A Témé; C O Sidibé; A K Cissé; O Traoré; M Traoré; C O Guinto
Journal:  Health Sci Dis       Date:  2021-11

Review 2.  Neurogenomics in Africa: Perspectives, progress, possibilities and priorities.

Authors:  Rufus O Akinyemi; Mayowa O Owolabi; Tolulope Oyeniyi; Bruce Ovbiagele; Donna K Arnett; Hemant K Tiwari; Richard Walker; Adesola Ogunniyi; Raj N Kalaria
Journal:  J Neurol Sci       Date:  2016-05-06       Impact factor: 3.181

3.  Etiologies of Childhood Hearing Impairment in Schools for the Deaf in Mali.

Authors:  Abdoulaye Yalcouyé; Oumou Traoré; Abdoulaye Taméga; Alassane B Maïga; Fousseyni Kané; Oluwafemi G Oluwole; Cheick Oumar Guinto; Mohamed Kéita; Samba Karim Timbo; Carmen DeKock; Guida Landouré; Ambroise Wonkam
Journal:  Front Pediatr       Date:  2021-11-29       Impact factor: 3.418

4.  The natural history of ataxia-telangiectasia (A-T): A systematic review.

Authors:  Emily Petley; Alexander Yule; Shaun Alexander; Shalini Ojha; William P Whitehouse
Journal:  PLoS One       Date:  2022-03-15       Impact factor: 3.752

5.  Genetics and genomic medicine in Mali: challenges and future perspectives.

Authors:  Guida Landouré; Oumar Samassékou; Mahamadou Traoré; Katherine G Meilleur; Cheick Oumar Guinto; Barrington G Burnett; Charlotte J Sumner; Kenneth H Fischbeck
Journal:  Mol Genet Genomic Med       Date:  2016-03-17       Impact factor: 2.183
  5 in total

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