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A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.
Ferreiro A, Monnier N, Romero NB, Leroy JP, Bönnemann C, Haenggeli CA, Straub V, Voss WD, Nivoche Y, Jungbluth H, Lemainque A, Voit T, Lunardi J, Fardeau M, Guicheney P. Ferreiro A, et al. Among authors: lemainque a. Ann Neurol. 2002 Jun;51(6):750-9. doi: 10.1002/ana.10231. Ann Neurol. 2002. PMID: 12112081
A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1.
Vuillaume I, Devos D, Schraen-Maschke S, Dina C, Lemainque A, Vasseur F, Bocquillon G, Devos P, Kocinski C, Marzys C, Destée A, Sablonnière B. Vuillaume I, et al. Among authors: lemainque a. Ann Neurol. 2002 Nov;52(5):666-70. doi: 10.1002/ana.10344. Ann Neurol. 2002. PMID: 12402269
A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease.
Bustamante J, Picard C, Fieschi C, Filipe-Santos O, Feinberg J, Perronne C, Chapgier A, de Beaucoudrey L, Vogt G, Sanlaville D, Lemainque A, Emile JF, Abel L, Casanova JL. Bustamante J, et al. Among authors: lemainque a. J Med Genet. 2007 Feb;44(2):e65. doi: 10.1136/jmg.2006.043406. J Med Genet. 2007. PMID: 17293536 Free PMC article.
Amish brittle hair syndrome gene maps to 7p14.1.
Seboun E, Lemainque A, Jackson CE. Seboun E, et al. Among authors: lemainque a. Am J Med Genet A. 2005 Apr 30;134(3):290-4. doi: 10.1002/ajmg.a.30615. Am J Med Genet A. 2005. PMID: 15723315
Evidence for linkage of a new region (11p14) to eczema and allergic diseases.
Guilloud-Bataille M, Bouzigon E, Annesi-Maesano I, Bousquet J, Charpin D, Gormand F, Hochez J, Just J, Lemainque A, Le Moual N, Matran R, Neukirch F, Oryszczyn MP, Paty E, Pin I, Vervloet D, Kauffmann F, Lathrop M, Demenais F, Dizier MH. Guilloud-Bataille M, et al. Among authors: lemainque a. Hum Genet. 2008 Jan;122(6):605-14. doi: 10.1007/s00439-007-0439-7. Epub 2007 Oct 18. Hum Genet. 2008. PMID: 17943316 Free PMC article.
47 results