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Page 1
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19.
Meilleur KG, Traoré M, Sangaré M, Britton A, Landouré G, Coulibaly S, Niaré B, Mochel F, La Pean A, Rafferty I, Watts C, Shriner D, Littleton-Kearney MT, Blackstone C, Singleton A, Fischbeck KH. Meilleur KG, et al. Among authors: fischbeck kh. Neurogenetics. 2010 Jul;11(3):313-8. doi: 10.1007/s10048-009-0230-0. Epub 2009 Dec 29. Neurogenetics. 2010. PMID: 20039086 Free PMC article.
A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20.
Knight MA, Hernandez D, Diede SJ, Dauwerse HG, Rafferty I, van de Leemput J, Forrest SM, Gardner RJ, Storey E, van Ommen GJ, Tapscott SJ, Fischbeck KH, Singleton AB. Knight MA, et al. Among authors: fischbeck kh. Hum Mol Genet. 2008 Dec 15;17(24):3847-53. doi: 10.1093/hmg/ddn283. Epub 2008 Sep 18. Hum Mol Genet. 2008. PMID: 18801880 Free PMC article.
Genetic testing and counseling for hereditary neurological diseases in Mali.
Meilleur KG, Coulibaly S, Traoré M, Landouré G, La Pean A, Sangaré M, Mochel F, Traoré S, Fischbeck KH, Han HR. Meilleur KG, et al. Among authors: fischbeck kh. J Community Genet. 2011 Mar;2(1):33-42. doi: 10.1007/s12687-011-0038-0. Epub 2011 Feb 22. J Community Genet. 2011. PMID: 22109722 Free PMC article.
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, Dürr A, Stevanin G, Biesecker LG; NIH Intramural Sequencing Center; Accardi J, Landis DM, Gahl WA, Traynor BJ, Marques W Jr, Züchner S, Blackstone C, Fischbeck KH, Burnett BG. Landouré G, et al. Among authors: fischbeck kh. Hum Mutat. 2013 Oct;34(10):1357-60. doi: 10.1002/humu.22378. Epub 2013 Aug 12. Hum Mutat. 2013. PMID: 23857908 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.
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.
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.
Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.
Sangaré M, Hendrickson B, Sango HA, Chen K, Nofziger J, Amara A, Dutra A, Schindler AB, Guindo A, Traoré M, Harmison G, Pak E, Yaro FN, Bricceno K, Grunseich C, Chen G, Boehm M, Zukosky K, Bocoum N, Meilleur KG, Daou F, Bagayogo K, Coulibaly YI, Diakité M, Fay MP, Lee HS, Saad A, Gribaa M, Singleton AB, Maiga Y, Auh S, Landouré G, Fairhurst RM, Burnett BG, Scholl T, Fischbeck KH. Sangaré M, et al. Among authors: fischbeck kh. Ann Neurol. 2014 Apr;75(4):525-32. doi: 10.1002/ana.24114. Epub 2014 Apr 2. Ann Neurol. 2014. PMID: 24515897 Free PMC article.
256 results