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76 results

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Page 1
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
Zimoń M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, Merlini L, Hilton-Jones D, McEntagart M, Crosby AH, Barisic N, Boltshauser E, Shaw CE, Landouré G, Ludlow CL, Gaudet R, Houlden H, Reilly MM, Fischbeck KH, Sumner CJ, Timmerman V, Jordanova A, Jonghe PD. Zimoń M, et al. Among authors: landoure g. Brain. 2010 Jun;133(Pt 6):1798-809. doi: 10.1093/brain/awq109. Epub 2010 May 11. Brain. 2010. PMID: 20460441 Free PMC article.
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
Landouré G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, Caterina MJ, Gaudet R, Kleta R, Fischbeck KH, Sumner CJ. Landouré G, et al. Nat Genet. 2010 Feb;42(2):170-4. doi: 10.1038/ng.512. Epub 2009 Dec 27. Nat Genet. 2010. PMID: 20037586 Free PMC article.
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: landoure g. 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.
Clinical and genetic analysis of spinocerebellar ataxia in Mali.
Traoré M, Coulibaly T, Meilleur KG, La Pean A, Sangaré M, Landouré G, Mochel F, Karambé M, Guinto CO, Fischbeck KH. Traoré M, et al. Among authors: landoure g. Eur J Neurol. 2011 Oct;18(10):1269-71. doi: 10.1111/j.1468-1331.2011.03376.x. Epub 2011 Mar 21. Eur J Neurol. 2011. PMID: 21418439 Free PMC article.
Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family.
Landouré G, Sullivan JM, Johnson JO, Munns CH, Shi Y, Diallo O, Gibbs JR, Gaudet R, Ludlow CL, Fischbeck KH, Traynor BJ, Burnett BG, Sumner CJ. Landouré G, et al. Neurology. 2012 Jul 10;79(2):192-4. doi: 10.1212/WNL.0b013e31825f04b2. Epub 2012 Jun 6. Neurology. 2012. PMID: 22675077 Free PMC article. No abstract available.
A candidate gene for autoimmune myasthenia gravis.
Landouré G, Knight MA, Stanescu H, Taye AA, Shi Y, Diallo O, Johnson JO, Hernandez D, Traynor BJ, Biesecker LG; NIH Intramural Sequencing Center; Elkahloun A, Rinaldi C, Vincent A, Willcox N, Kleta R, Fischbeck KH, Burnett BG. Landouré G, et al. Neurology. 2012 Jul 24;79(4):342-7. doi: 10.1212/WNL.0b013e318260cbd0. Epub 2012 Jun 27. Neurology. 2012. PMID: 22744667 Free PMC article.
Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia.
Landouré G, Mochel F, Meilleur K, Ly M, Sangaré M, Bocoum N, Bagayoko K, Coulibaly T, Sarr AM, Bâ HO, Coulibaly S, Guinto CO, Touré M, Traoré M, Fischbeck KH. Landouré G, et al. J Neurol. 2013 Jan;260(1):324-6. doi: 10.1007/s00415-012-6738-5. Epub 2012 Nov 11. J Neurol. 2013. PMID: 23142947 Free PMC article. No abstract available.
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.
Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landouré G, Kennerson ML, Burnett BG, Bönnemann C, Biesecker LG, Ghezzi D, Zeviani M, Fischbeck KH. Rinaldi C, et al. Among authors: landoure g. Am J Hum Genet. 2012 Dec 7;91(6):1095-102. doi: 10.1016/j.ajhg.2012.10.008. Am J Hum Genet. 2012. PMID: 23217327 Free PMC article.
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: landoure g. 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.
76 results