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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: yalcouye a. Mol Genet Genomic Med. 2024 Nov;12(11):e70032. doi: 10.1002/mgg3.70032. Mol Genet Genomic Med. 2024. PMID: 39523858 Free PMC article.
Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings.
Cissé L, Bamba S, Diallo SH, Ji W, Dembélé ME, Yalcouyé A, Coulibaly T, Traoré I, Jeffries L, Diarra S, Maiga ADB, Diallo S, Nimaga K, Touré A, Traoré O, Kotioumbé M, Mis EK, Cissé CAK, Guinto CO, Fischbeck KH, Khokha MK, Lakhani SA, Landouré G. Cissé L, et al. Among authors: yalcouye a. Front Neurol. 2024 Sep 25;15:1455467. doi: 10.3389/fneur.2024.1455467. eCollection 2024. Front Neurol. 2024. PMID: 39385815 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: yalcouye a. Neurogenetics. 2024 Oct;25(4):487-492. doi: 10.1007/s10048-024-00761-z. Epub 2024 Aug 1. Neurogenetics. 2024. PMID: 39088149
AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia.
Diarra S, Ghosh S, Cissé L, Coulibaly T, Yalcouyé A, Harmison G, Diallo S, Diallo SH, Coulibaly O, Schindler A, Cissé CAK, Maiga AB, Bamba S, Samassekou O, Khokha MK, Mis EK, Lakhani SA, Donovan FX, Jacobson S, Blackstone C, Guinto CO, Landouré G, Bonifacino JS, Fischbeck KH, Grunseich C. Diarra S, et al. Among authors: yalcouye a. Neurobiol Dis. 2024 Aug;198:106537. doi: 10.1016/j.nbd.2024.106537. Epub 2024 May 19. Neurobiol Dis. 2024. PMID: 38772452 Free article.
A novel variant in the GNE gene in a Malian patient presenting with distal myopathy.
Kotioumbe 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. Kotioumbe M, et al. Among authors: yalcouye a. Res Sq [Preprint]. 2024 Mar 7:rs.3.rs-4004982. doi: 10.21203/rs.3.rs-4004982/v1. Res Sq. 2024. Update in: Neurogenetics. 2024 Oct;25(4):487-492. doi: 10.1007/s10048-024-00761-z PMID: 38496429 Free PMC article. Updated. Preprint.
A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl.
Cissé L, Yalcouyé A, Touré KO, Coulibaly Y, Maiga AB, Bamba S, Diallo D, Diarra S, Taméga A, Traoré O, Kotioumbé M, Sangaré MA, Ba HO, Simaga A, Koné FI, Samassekou O, Koné A, Guinto CO, Landouré G; H3Africa consortium. Cissé L, et al. Among authors: yalcouye a. Clin Case Rep. 2024 Feb 26;12(2):e8551. doi: 10.1002/ccr3.8551. eCollection 2024 Feb. Clin Case Rep. 2024. PMID: 38415192 Free PMC article.
Novel variant in CADM3 causes Charcot-Marie-Tooth disease.
Yalcouyé A, Rebelo AP, Cissé L, Rives L, Bamba S, Cogan J, Esoh K, Diarra S, Ezell KM, Taméga A, Guinto CO, Dohrn MF, Hamid R, Fischbeck KH, Zuchner S, Landouré G. Yalcouyé A, et al. Brain Commun. 2023 Sep 5;5(5):fcad227. doi: 10.1093/braincomms/fcad227. eCollection 2023. Brain Commun. 2023. PMID: 38074074 Free PMC article.
Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.
Yeetong P, Dembélé ME, Pongpanich M, Cissé L, Srichomthong C, Maiga AB, Dembélé K, Assawapitaksakul A, Bamba S, Yalcouyé A, Diarra S, Mefoung SE, Rakwongkhachon S, Traoré O, Tongkobpetch S, Fischbeck KH, Gahl WA, Guinto CO, Shotelersuk V, Landouré G. Yeetong P, et al. Among authors: yalcouye a. Mov Disord. 2024 Jan;39(1):164-172. doi: 10.1002/mds.29654. Epub 2023 Nov 22. Mov Disord. 2024. PMID: 37994247
Socio-cultural representation of epilepsy at the teaching hospital of point G, Mali.
Coulibaly T, Dicko OA, Sangaré M, Sissoko AS, Cissé L, Landouré G, Djimdé SO, Yalcouyé A, Coulibaly T, Karambé M, Maiga YM, Guinto CO. Coulibaly T, et al. Among authors: yalcouye a. eNeurologicalSci. 2023 Sep 26;33:100477. doi: 10.1016/j.ensci.2023.100477. eCollection 2023 Dec. eNeurologicalSci. 2023. PMID: 37786566 Free PMC article.
30 results