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Page 1
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J. Krieger M, et al. Among authors: rivier f. Brain. 2013 Dec;136(Pt 12):3634-44. doi: 10.1093/brain/awt283. Epub 2013 Oct 30. Brain. 2013. PMID: 24176978 Free article.
Early onset collagen VI myopathies: Genetic and clinical correlations.
Briñas L, Richard P, Quijano-Roy S, Gartioux C, Ledeuil C, Lacène E, Makri S, Ferreiro A, Maugenre S, Topaloglu H, Haliloglu G, Pénisson-Besnier I, Jeannet PY, Merlini L, Navarro C, Toutain A, Chaigne D, Desguerre I, de Die-Smulders C, Dunand M, Echenne B, Eymard B, Kuntzer T, Maincent K, Mayer M, Plessis G, Rivier F, Roelens F, Stojkovic T, Taratuto AL, Lubieniecki F, Monges S, Tranchant C, Viollet L, Romero NB, Estournet B, Guicheney P, Allamand V. Briñas L, et al. Among authors: rivier f. Ann Neurol. 2010 Oct;68(4):511-20. doi: 10.1002/ana.22087. Ann Neurol. 2010. PMID: 20976770
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.
Quijano-Roy S, Haberlova J, Castiglioni C, Vissing J, Munell F, Rivier F, Stojkovic T, Malfatti E, Gómez García de la Banda M, Tasca G, Costa Comellas L, Benezit A, Amthor H, Dabaj I, Gontijo Camelo C, Laforêt P, Rendu J, Romero NB, Cavassa E, Fattori F, Beroud C, Zídková J, Leboucq N, Løkken N, Sanchez-Montañez Á, Ortega X, Kynčl M, Metay C, Gómez-Andrés D, Carlier RY. Quijano-Roy S, et al. Among authors: rivier f. J Neurol. 2022 May;269(5):2414-2429. doi: 10.1007/s00415-021-10806-0. Epub 2021 Sep 24. J Neurol. 2022. PMID: 34559299
Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!
Roubertie A, Charif M, Meyer P, Manes G, Meunier I, Taieb G, Junta Morales R, Guichet A, Delettre C, Sarzi E, Leboucq N, Rivier F, Lenaers G. Roubertie A, et al. Among authors: rivier f. Ann Clin Transl Neurol. 2019 Aug;6(8):1572-1577. doi: 10.1002/acn3.50860. Epub 2019 Jul 27. Ann Clin Transl Neurol. 2019. PMID: 31402626 Free PMC article.
Congenital muscular dystrophy and cerebellar atrophy.
Echenne B, Rivier F, Tardieu M, Brive M, Robert A, Pages AM, Pons F, Mornet D. Echenne B, et al. Among authors: rivier f. Neurology. 1998 May;50(5):1477-80. doi: 10.1212/wnl.50.5.1477. Neurology. 1998. PMID: 9596013
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
Collier JJ, Guissart C, Oláhová M, Sasorith S, Piron-Prunier F, Suomi F, Zhang D, Martinez-Lopez N, Leboucq N, Bahr A, Azzarello-Burri S, Reich S, Schöls L, Polvikoski TM, Meyer P, Larrieu L, Schaefer AM, Alsaif HS, Alyamani S, Zuchner S, Barbosa IA, Deshpande C, Pyle A, Rauch A, Synofzik M, Alkuraya FS, Rivier F, Ryten M, McFarland R, Delahodde A, McWilliams TG, Koenig M, Taylor RW. Collier JJ, et al. Among authors: rivier f. N Engl J Med. 2021 Jun 24;384(25):2406-2417. doi: 10.1056/NEJMoa1915722. N Engl J Med. 2021. PMID: 34161705 Free PMC article.
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
Daoud F, Angeard N, Demerre B, Martie I, Benyaou R, Leturcq F, Cossée M, Deburgrave N, Saillour Y, Tuffery S, Urtizberea A, Toutain A, Echenne B, Frischman M, Mayer M, Desguerre I, Estournet B, Réveillère C, Penisson-Besnier, Cuisset JM, Kaplan JC, Héron D, Rivier F, Chelly J. Daoud F, et al. Among authors: rivier f. Hum Mol Genet. 2009 Oct 15;18(20):3779-94. doi: 10.1093/hmg/ddp320. Epub 2009 Jul 14. Hum Mol Genet. 2009. PMID: 19602481
196 results