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2,816 results

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29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
Monin ML, Mignot C, De Lonlay P, Héron B, Masurel A, Mathieu-Dramard M, Lenaerts C, Thauvin C, Gérard M, Roze E, Jacquette A, Charles P, de Baracé C, Drouin-Garraud V, Khau Van Kien P, Cormier-Daire V, Mayer M, Ogier H, Brice A, Seta N, Héron D. Monin ML, et al. Among authors: mayer m. Orphanet J Rare Dis. 2014 Dec 11;9:207. doi: 10.1186/s13023-014-0207-4. Orphanet J Rare Dis. 2014. PMID: 25497157 Free PMC article.
Retinal involvement in two unrelated patients with Myhre syndrome.
Al Ageeli E, Mignot C, Afenjar A, Whalen S, Dorison N, Mayer M, Esteva B, Dubern B, Momtchilova M, Le Gargasson JF, Bursztyn J, Héron D. Al Ageeli E, et al. Among authors: mayer m. Eur J Med Genet. 2012 Oct;55(10):541-7. doi: 10.1016/j.ejmg.2012.05.006. Epub 2012 Jun 7. Eur J Med Genet. 2012. PMID: 22683461
Congenital immobility and stiffness related to biallelic ATAD1 variants.
Bunod R, Doummar D, Whalen S, Keren B, Chantot-Bastaraud S, Maincent K, Villy MC, Mayer M, Rodriguez D, Burglen L, Léger PL, Kieffer F, Martin I, Héron D, Buratti J, Isapof A, Afenjar A, Billette de Villemeur T, Mignot C. Bunod R, et al. Among authors: mayer m. Neurol Genet. 2020 Sep 24;6(6):e520. doi: 10.1212/NXG.0000000000000520. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33134516 Free PMC article.
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D. Bramswig NC, et al. Among authors: mayer m. Hum Genet. 2018 Sep;137(9):753-768. doi: 10.1007/s00439-018-1929-5. Epub 2018 Aug 23. Hum Genet. 2018. PMID: 30167850 Free PMC article.
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.
Lagrue E, Dogan C, De Antonio M, Audic F, Bach N, Barnerias C, Bellance R, Cances C, Chabrol B, Cuisset JM, Desguerre I, Durigneux J, Espil C, Fradin M, Héron D, Isapof A, Jacquin-Piques A, Journel H, Laroche-Raynaud C, Laugel V, Magot A, Manel V, Mayer M, Péréon Y, Perrier-Boeswillald J, Peudenier S, Quijano-Roy S, Ragot-Mandry S, Richelme C, Rivier F, Sabouraud P, Sarret C, Testard H, Vanhulle C, Walther-Louvier U, Gherardi R, Hamroun D, Bassez G. Lagrue E, et al. Among authors: mayer m. Neurology. 2019 Feb 19;92(8):e852-e865. doi: 10.1212/WNL.0000000000006948. Epub 2019 Jan 18. Neurology. 2019. PMID: 30659139
Epilepsy in Menkes disease: analysis of clinical stages.
Bahi-Buisson N, Kaminska A, Nabbout R, Barnerias C, Desguerre I, De Lonlay P, Mayer M, Plouin P, Dulac O, Chiron C. Bahi-Buisson N, et al. Among authors: mayer m. Epilepsia. 2006 Feb;47(2):380-6. doi: 10.1111/j.1528-1167.2006.00432.x. Epilepsia. 2006. PMID: 16499764 Free article.
2,816 results