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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: fischbeck k. Mol Genet Genomic Med. 2024 Nov;12(11):e70032. doi: 10.1002/mgg3.70032. Mol Genet Genomic Med. 2024. PMID: 39523858 Free PMC article.
Hereditary spastic paraplegia in Mali: epidemiological and clinical features.
Diarra S, Coulibaly T, Dembélé K, Ngouth N, Cissé L, Diallo SH, Ouologuem M, Diallo S, Coulibaly O, Bagayoko K, Coulibaly D, Simaga A, Sango HA, Traoré M, Jacobson S, Fischbeck KH, Landouré G, Guinto CO; H3Africa consortium. Diarra S, et al. Among authors: fischbeck kh. Acta Neurol Belg. 2023 Dec;123(6):2155-2165. doi: 10.1007/s13760-022-02113-w. Epub 2022 Nov 17. Acta Neurol Belg. 2023. PMID: 36396882
Clinical, paraclinical and genetic aspects of autosomal recessive cerebellar ataxias (ARCA) in Mali.
Cissé C, Cissé L, Samassékou O, Ba HO, Coulibaly T, Diallo SH, Diallo S, Taméga A, Diarra S, Maïga AB, Kané F, Yalcouyé A, Bocoum A, Dembélé ME, Traoré O, Simaga A, Traoré SF, Keita M, Fischbeck K, Traoré M, Guinto CO, Landouré G. Cissé C, et al. Among authors: fischbeck k. Mali Med. 2022 Dec 26;37(4):61-65. Mali Med. 2022. PMID: 36919030 Free PMC article.
[Progressive myoclonic epilepsy in the department of neurology of the University Teaching hospital Point "G"].
Dembélé ME, Cissé L, Diarra S, Yalcouyé A, Taméga A, Bocoum A, Maïga AB, Diallo SH, Coulibaly T, Diallo S, Simaga A, Grunseich C, Kéita M, Coulibaly MB, Fischbeck KH, Maiga Y, Guinto CO, Landouré G. Dembélé ME, et al. Among authors: fischbeck kh. Mali Med. 2022 Jul 8;37(2):17-21. Mali Med. 2022. PMID: 36945313 Free PMC article. French.
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: fischbeck kh. Mov Disord. 2024 Jan;39(1):164-172. doi: 10.1002/mds.29654. Epub 2023 Nov 22. Mov Disord. 2024. PMID: 37994247 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. Among authors: fischbeck kh. Brain Commun. 2023 Sep 5;5(5):fcad227. doi: 10.1093/braincomms/fcad227. eCollection 2023. Brain Commun. 2023. PMID: 38074074 Free PMC article.
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: fischbeck kh. Neurobiol Dis. 2024 Aug;198:106537. doi: 10.1016/j.nbd.2024.106537. Epub 2024 May 19. Neurobiol Dis. 2024. PMID: 38772452 Free 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: fischbeck kh. Front Neurol. 2024 Sep 25;15:1455467. doi: 10.3389/fneur.2024.1455467. eCollection 2024. Front Neurol. 2024. PMID: 39385815 Free PMC article.
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: fischbeck kh. Front Genet. 2024 Nov 18;15:1412442. doi: 10.3389/fgene.2024.1412442. eCollection 2024. Front Genet. 2024. PMID: 39624497 Free PMC article.
Patient-Reported Impact of Symptoms in Spinal and Bulbar Muscular Atrophy.
Alqahtani A, Kokkinis A, Zizzi C, Dilek N, Fischbeck KH, Heatwole CR, Grunseich C. Alqahtani A, et al. Among authors: fischbeck kh. Neurol Clin Pract. 2023 Dec;13(6):e200213. doi: 10.1212/CPJ.0000000000200213. Epub 2023 Oct 31. Neurol Clin Pract. 2023. PMID: 39140081 Free PMC article.
279 results