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2017 2
2019 5
2020 6
2021 2
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12 results
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Page 1
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Bar C, Kuchenbuch M, Barcia G, Schneider A, Jennesson M, Le Guyader G, Lesca G, Mignot C, Montomoli M, Parrini E, Isnard H, Rolland A, Keren B, Afenjar A, Dorison N, Sadleir LG, Breuillard D, Levy R, Rio M, Dupont S, Negrin S, Danieli A, Scalais E, De Saint Martin A, El Chehadeh S, Chelly J, Poisson A, Lebre AS, Nica A, Odent S, Sekhara T, Brankovic V, Goldenberg A, Vrielynck P, Lederer D, Maurey H, Terrone G, Besmond C, Hubert L, Berquin P, Billette de Villemeur T, Isidor B, Freeman JL, Mefford HC, Myers CT, Howell KB, Rodríguez-Sacristán Cascajo A, Meyer P, Genevieve D, Guët A, Doummar D, Durigneux J, van Dooren MF, de Wit MCY, Gerard M, Marey I, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Bar C, et al. Among authors: durigneux j. Epilepsia. 2020 Nov;61(11):2461-2473. doi: 10.1111/epi.16679. Epub 2020 Sep 21. Epilepsia. 2020. PMID: 32954514 Free article.
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
Villar-Quiles RN, Catervi F, Cabet E, Juntas-Morales R, Genetti CA, Gidaro T, Koparir A, Yüksel A, Coppens S, Deconinck N, Pierce-Hoffman E, Lornage X, Durigneux J, Laporte J, Rendu J, Romero NB, Beggs AH, Servais L, Cossée M, Olivé M, Böhm J, Duband-Goulet I, Ferreiro A. Villar-Quiles RN, et al. Among authors: durigneux j. Ann Neurol. 2020 Feb;87(2):217-232. doi: 10.1002/ana.25660. Epub 2019 Dec 27. Ann Neurol. 2020. PMID: 31794073 Free PMC article.
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: durigneux j. Front Pediatr. 2020 Feb 18;8:4. doi: 10.3389/fped.2020.00004. eCollection 2020. Front Pediatr. 2020. PMID: 32133329 Free PMC article.
Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen.
Aragon-Gawinska K, Daron A, Ulinici A, Vanden Brande L, Seferian A, Gidaro T, Scoto M, Deconinck N, Servais L; SMA-Registry Study Group. Aragon-Gawinska K, et al. Dev Med Child Neurol. 2020 Mar;62(3):310-314. doi: 10.1111/dmcn.14412. Epub 2019 Dec 4. Dev Med Child Neurol. 2020. PMID: 31799720 Free article.
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.
Audic F, de la Banda MGG, Bernoux D, Ramirez-Garcia P, Durigneux J, Barnerias C, Isapof A, Cuisset JM, Cances C, Richelme C, Vuillerot C, Laugel V, Ropars J, Altuzarra C, Espil-Taris C, Walther-Louvier U, Sabouraud P, Chouchane M, Vanhulle C, Trommsdorff V, Pervillé A, Testard H, Lagrue E, Sarret C, Avice AL, Beze-Beyrie P, Pauly V, Quijano-Roy S, Chabrol B, Desguerre I. Audic F, et al. Among authors: durigneux j. Orphanet J Rare Dis. 2020 Jun 12;15(1):148. doi: 10.1186/s13023-020-01414-8. Orphanet J Rare Dis. 2020. PMID: 32532349 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: durigneux j. Neurology. 2019 Feb 19;92(8):e852-e865. doi: 10.1212/WNL.0000000000006948. Epub 2019 Jan 18. Neurology. 2019. PMID: 30659139
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.
Wahbi K, Ben Yaou R, Gandjbakhch E, Anselme F, Gossios T, Lakdawala NK, Stalens C, Sacher F, Babuty D, Trochu JN, Moubarak G, Savvatis K, Porcher R, Laforêt P, Fayssoil A, Marijon E, Stojkovic T, Béhin A, Leonard-Louis S, Sole G, Labombarda F, Richard P, Metay C, Quijano-Roy S, Dabaj I, Klug D, Vantyghem MC, Chevalier P, Ambrosi P, Salort E, Sadoul N, Waintraub X, Chikhaoui K, Mabo P, Combes N, Maury P, Sellal JM, Tedrow UB, Kalman JM, Vohra J, Androulakis AFA, Zeppenfeld K, Thompson T, Barnerias C, Bécane HM, Bieth E, Boccara F, Bonnet D, Bouhour F, Boulé S, Brehin AC, Chapon F, Cintas P, Cuisset JM, Davy JM, De Sandre-Giovannoli A, Demurger F, Desguerre I, Dieterich K, Durigneux J, Echaniz-Laguna A, Eschalier R, Ferreiro A, Ferrer X, Francannet C, Fradin M, Gaborit B, Gay A, Hagège A, Isapof A, Jeru I, Juntas Morales R, Lagrue E, Lamblin N, Lascols O, Laugel V, Lazarus A, Leturcq F, Levy N, Magot A, Manel V, Martins R, Mayer M, Mercier S, Meune C, Michaud M, Minot-Myhié MC, Muchir A, Nadaj-Pakleza A, Péréon Y, Petiot P, Petit F, Praline J, Rollin A, Sabouraud P, Sarret C, Schaeffer S, Taithe F, Tard C, Tiffreau V, Toutain A, Vatier C, Walther-Louvier U, Eymard B, Charron P, Vigouroux C, Bonne G, Kumar S, Elliott P, Duboc D. Wahbi K, et al. Among authors: durigneux j. Circulation. 2019 Jul 23;140(4):293-302. doi: 10.1161/CIRCULATIONAHA.118.039410. Epub 2019 Jun 3. Circulation. 2019. PMID: 31155932
Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen.
Gómez-García de la Banda M, Amaddeo A, Khirani S, Pruvost S, Barnerias C, Dabaj I, Bénézit A, Durigneux J, Carlier RY, Desguerre I, Quijano-Roy S, Fauroux B. Gómez-García de la Banda M, et al. Among authors: durigneux j. Pediatr Pulmonol. 2021 Jan;56(1):299-306. doi: 10.1002/ppul.25142. Epub 2020 Nov 5. Pediatr Pulmonol. 2021. PMID: 33118682
Voiding dysfunction after isolated cerebellum stroke in a teenager.
Pasquet T, Durigneux J, Anselmetti A, Tessiot C, Beaumesnil M, Delion M, Dinomais M. Pasquet T, et al. Among authors: durigneux j. Ann Phys Rehabil Med. 2017 Jul;60(4):270-273. doi: 10.1016/j.rehab.2017.02.004. Epub 2017 Apr 21. Ann Phys Rehabil Med. 2017. PMID: 28438563 Free article. No abstract available.
12 results