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90 results

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Page 1
Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali.
Bamba S, Sidibé L, Diallo SH, Cissé L, Dembélé K, Yalcouyé A, Ji W, Dembélé ME, Diarra S, Maiga ADB, Traoré O, Diallo S, Mefoung SE, Touré A, Koné A, Jeffries L, Guinto CO, Mis EK, Fischbeck KH, Khokha MK, Lakhani SA, Landouré G. Bamba S, et al. Among authors: cisse l. Front Genet. 2024 Nov 18;15:1412442. doi: 10.3389/fgene.2024.1412442. eCollection 2024. Front Genet. 2024. PMID: 39624497 Free PMC article.
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: cisse l. 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. 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: cisse l. 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: cisse l. Neurobiol Dis. 2024 Aug;198:106537. doi: 10.1016/j.nbd.2024.106537. Epub 2024 May 19. Neurobiol Dis. 2024. PMID: 38772452 Free article.
The First Case of Huntington's Disease like 2 in Mali, West Africa.
Bocoum A, Ouologuem M, Cissé L, Essop F, Dit Papa Coulibaly S, Botha N, Cissé CAK, Dit Baneye Maiga A, Krause A, Landouré G; H3Africa consortium. Bocoum A, et al. Among authors: cisse l. Tremor Other Hyperkinet Mov (N Y). 2024 Apr 2;14:15. doi: 10.5334/tohm.859. eCollection 2024. Tremor Other Hyperkinet Mov (N Y). 2024. PMID: 38617831 Free PMC 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: cisse l. 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. 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.
90 results