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Results: 11

1.

English Cross-Cultural Translation and Validation of the Neuromuscular Score: A System for Motor Function Classification in Patients With Neuromuscular Diseases.

Vuillerot C, Meilleur KG, Jain M, Waite M, Wu T, Linton M, Datsgir J, Donkervoort S, Leach ME, Rutkowski A, Rippert P, Payan C, Iwaz J, Hamroun D, Bérard C, Poirot I, Bönnemann CG.

Arch Phys Med Rehabil. 2014 May 24. pii: S0003-9993(14)00368-2. doi: 10.1016/j.apmr.2014.05.003. [Epub ahead of print]

PMID:
24862765
[PubMed - as supplied by publisher]
2.

Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.

Meilleur KG, Zukosky K, Medne L, Fequiere P, Powell-Hamilton N, Winder TL, Alsaman A, El-Hattab AW, Dastgir J, Hu Y, Donkervoort S, Golden JA, Eagle R, Finkel R, Scavina M, Hood IC, Rorke-Adams LB, Bönnemann CG.

J Neuropathol Exp Neurol. 2014 May;73(5):425-41. doi: 10.1097/NEN.0000000000000065.

PMID:
24709677
[PubMed - indexed for MEDLINE]
3.

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.

Ann Neurol. 2014 Apr;75(4):525-32. doi: 10.1002/ana.24114. Epub 2014 Apr 2.

PMID:
24515897
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

Hum Mutat. 2013 Oct;34(10):1357-60. doi: 10.1002/humu.22378. Epub 2013 Aug 12.

PMID:
23857908
[PubMed - indexed for MEDLINE]
5.

Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).

Pierson TM, Markello T, Accardi J, Wolfe L, Adams D, Sincan M, Tarazi NM, Fajardo KF, Cherukuri PF, Bajraktari I, Meilleur KG, Donkervoort S, Jain M, Hu Y, Lehky TJ, Cruz P, Mullikin JC, Bonnemann C, Gahl WA, Boerkoel CF, Tifft CJ.

Neuromuscul Disord. 2013 Jun;23(6):483-8. doi: 10.1016/j.nmd.2013.01.013. Epub 2013 Mar 1.

PMID:
23453856
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Transferability and fine mapping of genome-wide associated loci for lipids in African Americans.

Adeyemo A, Bentley AR, Meilleur KG, Doumatey AP, Chen G, Zhou J, Shriner D, Huang H, Herbert A, Gerry NP, Christman MF, Rotimi CN.

BMC Med Genet. 2012 Sep 21;13:88. doi: 10.1186/1471-2350-13-88.

PMID:
22994408
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

J Community Genet. 2011 Mar;2(1):33-42. doi: 10.1007/s12687-011-0038-0. Epub 2011 Feb 22.

PMID:
22109722
[PubMed]
Free PMC Article
8.

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.

Eur J Neurol. 2011 Oct;18(10):1269-71. doi: 10.1111/j.1468-1331.2011.03376.x. Epub 2011 Mar 21.

PMID:
21418439
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Circulating adiponectin is associated with obesity and serum lipids in West Africans.

Meilleur KG, Doumatey A, Huang H, Charles B, Chen G, Zhou J, Shriner D, Adeyemo A, Rotimi C.

J Clin Endocrinol Metab. 2010 Jul;95(7):3517-21. doi: 10.1210/jc.2009-2765. Epub 2010 Apr 9.

PMID:
20382687
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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.

Neurogenetics. 2010 Jul;11(3):313-8. doi: 10.1007/s10048-009-0230-0. Epub 2009 Dec 29.

PMID:
20039086
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Interventions to improve patient education regarding multifactorial genetic conditions: a systematic review.

Meilleur KG, Littleton-Kearney MT.

Am J Med Genet A. 2009 Feb 15;149A(4):819-30. doi: 10.1002/ajmg.a.32723. Review.

PMID:
19291763
[PubMed - indexed for MEDLINE]
Free PMC Article

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