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Page 1
A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family.
Maiga AB, Pamanta I, Bamba S, Cissé L, Diarra S, Touré S, Yalcouyé A, Diallo S, Diallo S, Kané F, Diallo SH, Ba HO, Guinto CO, Fischbeck K, Landoure G, Cissé IA; H3Africa Consortium. Maiga AB, et al. Among authors: diarra s. Mol Genet Genomic Med. 2024 Nov;12(11):e70032. doi: 10.1002/mgg3.70032. Mol Genet Genomic Med. 2024. PMID: 39523858 Free PMC article.
A novel mutation in the GARS gene in a Malian family with Charcot-Marie-Tooth disease.
Yalcouyé A, Diallo SH, Coulibaly T, Cissé L, Diallo S, Samassékou O, Diarra S, Coulibaly D, Keita M, Guinto CO, Fischbeck K, Landouré G; H3Africa Consortium. Yalcouyé A, et al. Among authors: diarra s. Mol Genet Genomic Med. 2019 Jul;7(7):e00782. doi: 10.1002/mgg3.782. Epub 2019 Jun 7. Mol Genet Genomic Med. 2019. PMID: 31173493 Free PMC article.
A novel variant in the GNE gene in a Malian patient presenting with distal myopathy.
Kotioumbé M, Maiga AB, Bamba S, Cissé L, Diarra S, Diallo S, Yalcouyé A, Kané F, Diallo SH, Coulibaly D, Coulibaly T, Dembélé K, Maiga B, Guinto CO, Landouré G. Kotioumbé M, et al. Among authors: diarra s. Neurogenetics. 2024 Oct;25(4):487-492. doi: 10.1007/s10048-024-00761-z. Epub 2024 Aug 1. Neurogenetics. 2024. PMID: 39088149
A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss.
Guinto CO, Diarra S, Diallo S, Cissé L, Coulibaly T, Diallo SH, Taméga A, Chen KL, Schindler AB, Bagayoko K, Simaga A, Blackstone C, Fischbeck KH, Landouré G. Guinto CO, et al. Among authors: diarra s. Ann Clin Transl Neurol. 2017 Mar 21;4(4):272-275. doi: 10.1002/acn3.402. eCollection 2017 Apr. Ann Clin Transl Neurol. 2017. PMID: 28382308 Free PMC article.
Hereditary spastic paraplegia type 35 in a family from Mali.
Landouré G, Dembélé K, Cissé L, Samassékou O, Diarra S, Bocoum A, Dembélé ME, Fischbeck KH, Guinto CO; from The H3Africa Consortium. Landouré G, et al. Among authors: diarra s. Am J Med Genet A. 2019 Jul;179(7):1122-1125. doi: 10.1002/ajmg.a.61179. Epub 2019 May 14. Am J Med Genet A. 2019. PMID: 31087769 Free PMC article.
A novel variant in the spatacsin gene causing SPG11 in a Malian family.
Landouré G, Dembélé K, Diarra S, Cissé L, Samassékou O, Bocoum A, Yalcouyé A, Traoré M, Fischbeck KH, Guinto CO; H3Africa Consortium. Landouré G, et al. Among authors: diarra s. J Neurol Sci. 2020 Apr 15;411:116675. doi: 10.1016/j.jns.2020.116675. Epub 2020 Jan 7. J Neurol Sci. 2020. PMID: 32007754 Free PMC article. No abstract available.
Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family.
Cissé CAK, Cissé L, Ba HO, Samassékou O, Simaga A, Taméga A, Diarra S, Diallo SH, Coulibaly T, Diallo S, Yalcouyé A, Maiga AB, Keita M, Fischbeck KH, Traoré SF, Guinto CO, Landouré G; from the H3Africa Consortium. Cissé CAK, et al. Among authors: diarra s. Clin Case Rep. 2021 Mar 24;9(5):e04065. doi: 10.1002/ccr3.4065. eCollection 2021 May. Clin Case Rep. 2021. PMID: 34084490 Free PMC article.
Clinical and Genetic Aspects of Huntington's Disease in the Malian Population.
Bocoum A, Coulibaly T, Ouologuem M, Cissé L, Diallo SH, Maiga BB, Dembélé K, Diallo S, Coulibaly SDP, Kané F, Coulibaly T, Coulibaly D, Taméga A, Yalcouyé A, Diarra S, Dembélé ME, Maiga AB, Cissé CAK, Traoré O, Fischbeck KH, Guinto CO, Maiga Y, Landouré G; from The H3Africa consortium. Bocoum A, et al. Among authors: diarra s. J Huntingtons Dis. 2022;11(2):195-201. doi: 10.3233/JHD-220529. J Huntingtons Dis. 2022. PMID: 35311712
GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali.
Yalcouyé A, Diallo SH, Cissé L, Karembé M, Diallo S, Coulibaly T, Diarra S, Coulibaly D, Keita M, Guinto CO, Fischbeck KH, Wonkam A, Landouré G; H3Africa Consortium. Yalcouyé A, et al. Among authors: diarra s. J Peripher Nerv Syst. 2022 Jun;27(2):113-119. doi: 10.1111/jns.12486. Epub 2022 Apr 5. J Peripher Nerv Syst. 2022. PMID: 35383424 Free PMC article.
A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family.
Yalcouyé A, Traoré O, Diarra S, Schrauwen I, Esoh K, Kadlubowska MK, Bharadwaj T, Adadey SM, Kéita M, Guinto CO, Leal SM, Landouré G, Wonkam A. Yalcouyé A, et al. Among authors: diarra s. Mol Genet Genomic Med. 2022 Jul;10(7):e1995. doi: 10.1002/mgg3.1995. Epub 2022 Jun 14. Mol Genet Genomic Med. 2022. PMID: 35698919 Free PMC article.
96 results