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Page 1
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: fischbeck kh. 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 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. 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.
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: fischbeck kh. J Huntingtons Dis. 2022;11(2):195-201. doi: 10.3233/JHD-220529. J Huntingtons Dis. 2022. PMID: 35311712
Clinical and genetic analysis of spinocerebellar ataxia in Mali.
Traoré M, Coulibaly T, Meilleur KG, La Pean A, Sangaré M, Landouré G, Mochel F, Karambé M, Guinto CO, Fischbeck KH. Traoré M, et al. Among authors: fischbeck kh. Eur J Neurol. 2011 Oct;18(10):1269-71. doi: 10.1111/j.1468-1331.2011.03376.x. Epub 2011 Mar 21. Eur J Neurol. 2011. PMID: 21418439 Free PMC article.
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: fischbeck kh. 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: fischbeck kh. 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: fischbeck kh. 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: fischbeck kh. 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.
Genetics and genomic medicine in Mali: challenges and future perspectives.
Landouré G, Samassékou O, Traoré M, Meilleur KG, Guinto CO, Burnett BG, Sumner CJ, Fischbeck KH. Landouré G, et al. Among authors: fischbeck kh. Mol Genet Genomic Med. 2016 Mar 17;4(2):126-34. doi: 10.1002/mgg3.212. eCollection 2016 Mar. Mol Genet Genomic Med. 2016. PMID: 27066513 Free PMC article.
Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family.
Landouré G, Sullivan JM, Johnson JO, Munns CH, Shi Y, Diallo O, Gibbs JR, Gaudet R, Ludlow CL, Fischbeck KH, Traynor BJ, Burnett BG, Sumner CJ. Landouré G, et al. Among authors: fischbeck kh. Neurology. 2012 Jul 10;79(2):192-4. doi: 10.1212/WNL.0b013e31825f04b2. Epub 2012 Jun 6. Neurology. 2012. PMID: 22675077 Free PMC article. No abstract available.
255 results