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Items: 12

1.

Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy.

Villar-Quiles RN, Gomez-Garcia de la Banda M, Barois A, Bouchet-Séraphin C, Romero NB, Rio M, Quijano-Roy S, Ferreiro A.

J Neuromuscul Dis. 2020;7(1):69-76. doi: 10.3233/JND-190413.

PMID:
31796684
2.

Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.

Svahn J, Laforêt P, Vial C, Streichenberger N, Romero N, Bouchet-Séraphin C, Bruneel A, Dupré T, Seta N, Menassa R, Michel-Calemard L, Stojkovic T.

Neuromuscul Disord. 2019 Jul;29(7):497-502. doi: 10.1016/j.nmd.2019.05.004. Epub 2019 May 9.

PMID:
31266720
3.

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.

Krahn M, Biancalana V, Cerino M, Perrin A, Michel-Calemard L, Nectoux J, Leturcq F, Bouchet-Séraphin C, Acquaviva-Bourdain C, Campana-Salort E, Molon A, Urtizberea JA, Audic F, Chabrol B, Pouget J, Froissart R, Melki J, Rendu J, Petit F, Métay C, Seta N, Sternberg D, Fauré J, Cossée M.

Eur J Hum Genet. 2019 Mar;27(3):349-352. doi: 10.1038/s41431-018-0305-1. Epub 2018 Dec 14.

PMID:
30552423
4.

Limb girdle muscular dystrophy due to mutations in POMT2.

Østergaard ST, Johnson K, Stojkovic T, Krag T, De Ridder W, De Jonghe P, Baets J, Claeys KG, Fernández-Torrón R, Phillips L, Topf A, Colomer J, Nafissi S, Jamal-Omidi S, Bouchet-Seraphin C, Leturcq F, MacArthur DG, Lek M, Xu L, Nelson I, Straub V, Vissing J.

J Neurol Neurosurg Psychiatry. 2018 May;89(5):506-512. doi: 10.1136/jnnp-2017-317018. Epub 2017 Nov 24.

PMID:
29175898
5.

[Genes of alpha-dystroglycanopathies in 2016].

Bouchet-Séraphin C, Chelbi-Viallon M, Vuillaumier-Barrot S, Seta N.

Med Sci (Paris). 2016 Nov;32 Hors série n°2:40-45. Epub 2016 Nov 21. French. No abstract available.

6.

Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

Oestergaard ST, Stojkovic T, Dahlqvist JR, Bouchet-Seraphin C, Nectoux J, Leturcq F, Cossée M, Solé G, Thomsen C, Krag TO, Vissing J.

Neurol Genet. 2016 Oct 11;2(6):e112. eCollection 2016 Dec.

7.

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.

Gerin I, Ury B, Breloy I, Bouchet-Seraphin C, Bolsée J, Halbout M, Graff J, Vertommen D, Muccioli GG, Seta N, Cuisset JM, Dabaj I, Quijano-Roy S, Grahn A, Van Schaftingen E, Bommer GT.

Nat Commun. 2016 May 19;7:11534. doi: 10.1038/ncomms11534.

8.

Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein.

Bouchet-Séraphin C, Vuillaumier-Barrot S, Seta N.

J Neuromuscul Dis. 2015;2(1):27-38.

PMID:
28198708
9.

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.

Vuillaumier-Barrot S, Bouchet-Séraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerrière A, Fallet-Bianco C, Loget P, Odent S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonnière M, Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha K, Grandchamp B, Attié-Bitach T, Encha-Razavi F, Seta N.

Am J Hum Genet. 2012 Dec 7;91(6):1135-43. doi: 10.1016/j.ajhg.2012.10.009.

10.

Cortical heterotopia in LGMD2I.

Renard D, Fernandez C, Bouchet-Seraphin C, Labauge P.

Neuromuscul Disord. 2012 May;22(5):443-4. doi: 10.1016/j.nmd.2011.11.005. Epub 2012 Jan 20. No abstract available.

PMID:
22264518
11.

Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies.

Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, Eude-Caye A, Charluteau E, Besson C, Quentin S, Devisme L, Le Bizec C, Landrieu P, Goldenberg A, Maincent K, Loget P, Boute O, Gilbert-Dussardier B, Encha-Razavi F, Gonzales M, Grandchamp B, Seta N.

Neuromuscul Disord. 2011 Nov;21(11):782-90. doi: 10.1016/j.nmd.2011.06.001. Epub 2011 Jul 2.

PMID:
21727005
12.

Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.

Vuillaumier-Barrot S, Quijano-Roy S, Bouchet-Seraphin C, Maugenre S, Peudenier S, Van den Bergh P, Marcorelles P, Avila-Smirnow D, Chelbi M, Romero NB, Carlier RY, Estournet B, Guicheney P, Seta N.

Neuromuscul Disord. 2009 Mar;19(3):182-8. doi: 10.1016/j.nmd.2008.12.005.

PMID:
19179078

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