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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.
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
[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.
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
Altered SYNJ2BP-mediated mitochondrial-ER contacts in motor neuron disease.
Pourshafie N, Masati E, Lopez A, Bunker E, Snyder A, Edwards NA, Winkelsas AM, Fischbeck KH, Grunseich C. Pourshafie N, et al. Among authors: fischbeck kh. Neurobiol Dis. 2022 Oct 1;172:105832. doi: 10.1016/j.nbd.2022.105832. Epub 2022 Jul 27. Neurobiol Dis. 2022. PMID: 35907632 Free article.
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.
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
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
Bott LC, Forouhan M, Lieto M, Sala AJ, Ellerington R, Johnson JO, Speciale AA, Criscuolo C, Filla A, Chitayat D, Alkhunaizi E, Shannon P, Nemeth AH; Italian Undiagnosed Diseases Network; Angelucci F, Lim WF, Striano P, Zara F, Helbig I, Muona M, Courage C, Lehesjoki AE, Berkovic SF; ATPase Consortium; Fischbeck KH, Brancati F, Morimoto RI, Wood MJA, Rinaldi C. Bott LC, et al. Among authors: fischbeck kh. Brain Commun. 2021 Oct 18;3(4):fcab245. doi: 10.1093/braincomms/fcab245. eCollection 2021. Brain Commun. 2021. PMID: 34909687 Free PMC article.
249 results