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Year | Number of Results |
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2020 | 1 |
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Page 1
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study.
Neurol Ther. 2023 Apr;12(2):543-557. doi: 10.1007/s40120-023-00444-1. Epub 2023 Feb 13.
Neurol Ther. 2023.
PMID: 36780114
Free PMC article.
New insights into CC2D2A-related Joubert syndrome.
Harion M, Qebibo L, Riquet A, Rougeot C, Afenjar A, Garel C, Louha M, Lacaze E, Audic-Gérard F, Barth M, Berquin P, Bonneau D, Bourdain F, Busa T, Colin E, Cuisset JM, Des Portes V, Dorison N, Francannet C, Héron B, Laroche C, Lebrun M, Métreau J, Odent S, Pasquier L, Trujillo YP, Perrin L, Pinson L, Rivier F, Sigaudy S, Thauvin-Robinet C, Louvier UW, Labayle O, Rodriguez D, Valence S, Burglen L.
Harion M, et al. Among authors: louvier uw.
J Med Genet. 2023 Jun;60(6):578-586. doi: 10.1136/jmg-2022-108754. Epub 2022 Nov 1.
J Med Genet. 2023.
PMID: 36319078
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Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study.
Chiriboga CA, Bruno C, Duong T, Fischer D, Mercuri E, Kirschner J, Kostera-Pruszczyk A, Jaber B, Gorni K, Kletzl H, Carruthers I, Martin C, Warren F, Scalco RS, Wagner KR, Muntoni F; JEWELFISH Study Group.
Chiriboga CA, et al.
Neurol Ther. 2023 Oct;12(5):1799-1801. doi: 10.1007/s40120-023-00503-7.
Neurol Ther. 2023.
PMID: 37395990
Free PMC article.
No abstract available.
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Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population.
Baudou E, Cances C, Magdelaine C, Latour P, Louvier UW, Juntas-Morales R, Cintas P, Rivier F.
Baudou E, et al. Among authors: louvier uw.
Neuropediatrics. 2022 Jun;53(3):182-187. doi: 10.1055/s-0042-1743438. Epub 2022 Mar 16.
Neuropediatrics. 2022.
PMID: 35297028
Free article.
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Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports.
Hully M, Barnerias C, Chabalier D, Le Guen S, Germa V, Deladriere E, Vanhulle C, Cuisset JM, Chabrol B, Cances C, Vuillerot C, Espil C, Mayer M, Nougues MC, Sabouraud P, Lefranc J, Laugel V, Rivier F, Louvier UW, Durigneux J, Napuri S, Sarret C, Renouil M, Masurel A, Viallard ML, Desguerre I.
Hully M, et al. Among authors: louvier uw.
Front Pediatr. 2020 Feb 18;8:4. doi: 10.3389/fped.2020.00004. eCollection 2020.
Front Pediatr. 2020.
PMID: 32133329
Free PMC article.
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Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
Broix L, Jagline H, Ivanova E, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A; Deciphering Developmental Disorders study; Moïse M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischké P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J.
Broix L, et al. Among authors: louvier uw.
Nat Genet. 2016 Nov;48(11):1349-1358. doi: 10.1038/ng.3676. Epub 2016 Oct 3.
Nat Genet. 2016.
PMID: 27694961
Free PMC article.
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