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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2004 1
2005 2
2008 2
2009 1
2011 1
2012 2
2013 2
2014 1
2015 1
2016 1
2017 1
2018 1
2019 4
2020 2
2021 3
2023 2
2024 1

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27 results

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Page 1
Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type.
Audic F, Dubois SM, Durigneux J, Barnerias C, Isapof A, Nougues MC, Davion JB, Richelme C, Vuillerot C, Legoff L, Sabouraud P, Cances C, Laugel V, Ropars J, Espil-Taris C, Trommsdorff V, Pervillé A, Garcia-de-la-Banda MG, Testard H, Chouchane M, Walther-Louvier U, Schweizer C, Halbert C, Badri M, Quijano-Roy S, Chabrol B, Desguerre I. Audic F, et al. Among authors: sabouraud p. Arch Pediatr. 2024 Feb;31(2):117-123. doi: 10.1016/j.arcped.2023.10.009. Epub 2023 Dec 21. Arch Pediatr. 2024. PMID: 38135619
PRRT2 mutations cause hemiplegic migraine.
Riant F, Roze E, Barbance C, Méneret A, Guyant-Maréchal L, Lucas C, Sabouraud P, Trébuchon A, Depienne C, Tournier-Lasserve E. Riant F, et al. Among authors: sabouraud p. Neurology. 2012 Nov 20;79(21):2122-4. doi: 10.1212/WNL.0b013e3182752cb8. Epub 2012 Oct 17. Neurology. 2012. PMID: 23077016
International retrospective natural history study of LMNA-related congenital muscular dystrophy.
Ben Yaou R, Yun P, Dabaj I, Norato G, Donkervoort S, Xiong H, Nascimento A, Maggi L, Sarkozy A, Monges S, Bertoli M, Komaki H, Mayer M, Mercuri E, Zanoteli E, Castiglioni C, Marini-Bettolo C, D'Amico A, Deconinck N, Desguerre I, Erazo-Torricelli R, Gurgel-Giannetti J, Ishiyama A, Kleinsteuber KS, Lagrue E, Laugel V, Mercier S, Messina S, Politano L, Ryan MM, Sabouraud P, Schara U, Siciliano G, Vercelli L, Voit T, Yoon G, Alvarez R, Muntoni F, Pierson TM, Gómez-Andrés D, Reghan Foley A, Quijano-Roy S, Bönnemann CG, Bonne G. Ben Yaou R, et al. Among authors: sabouraud p. Brain Commun. 2021 Apr 11;3(3):fcab075. doi: 10.1093/braincomms/fcab075. eCollection 2021 Jul. Brain Commun. 2021. PMID: 34240052 Free PMC article.
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients.
Torelli S, Scaglioni D, Sardone V, Ellis MJ, Domingos J, Jones A, Feng L, Chambers D, Eastwood DM, Leturcq F, Yaou RB, Urtizberea A, Sabouraud P, Barnerias C, Stojkovic T, Ricci E, Beuvin M, Bonne G, Sewry CA, Willis T, Kulshrestha R, Tasca G, Phadke R, Morgan JE, Muntoni F. Torelli S, et al. Among authors: sabouraud p. J Neuropathol Exp Neurol. 2021 Oct 26;80(10):955-965. doi: 10.1093/jnen/nlab088. J Neuropathol Exp Neurol. 2021. PMID: 34498054 Free PMC article.
Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei.
Lornage X, Sabouraud P, Lannes B, Gaillard D, Schneider R, Deleuze JF, Boland A, Thompson J, Böhm J, Biancalana V, Laporte J. Lornage X, et al. Among authors: sabouraud p. J Neuromuscul Dis. 2018;5(2):257-260. doi: 10.3233/JND-170265. J Neuromuscul Dis. 2018. PMID: 29614691
Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQLTM3.0DMDfv).
Wallach E, Ehlinger V, Biotteau M, Walther-Louvier U, Péréon Y, Vuillerot C, Fontaine S, Sabouraud P, Espil-Taris C, Cuisset JM, Laugel V, Baudou E, Arnaud C, Cances C. Wallach E, et al. Among authors: sabouraud p. BMC Pediatr. 2023 Nov 15;23(1):563. doi: 10.1186/s12887-023-04153-4. BMC Pediatr. 2023. PMID: 37968589 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: sabouraud p. Neurology. 2019 Feb 19;92(8):e852-e865. doi: 10.1212/WNL.0000000000006948. Epub 2019 Jan 18. Neurology. 2019. PMID: 30659139
Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients.
Meyer P, Notarnicola C, Meli AC, Matecki S, Hugon G, Salvador J, Khalil M, Féasson L, Cances C, Cottalorda J, Desguerre I, Cuisset JM, Sabouraud P, Lacampagne A, Chevassus H, Rivier F, Carnac G. Meyer P, et al. Among authors: sabouraud p. Int J Mol Sci. 2021 Nov 30;22(23):12985. doi: 10.3390/ijms222312985. Int J Mol Sci. 2021. PMID: 34884796 Free PMC article.
Moyamoya disease associated with hereditary spherocytosis.
Vo Van P, Sabouraud P, Mac G, Abely M, Bednarek N. Vo Van P, et al. Among authors: sabouraud p. Pediatr Neurol. 2011 Jan;44(1):69-71. doi: 10.1016/j.pediatrneurol.2010.08.002. Pediatr Neurol. 2011. PMID: 21147392
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
Calmels N, Greff G, Obringer C, Kempf N, Gasnier C, Tarabeux J, Miguet M, Baujat G, Bessis D, Bretones P, Cavau A, Digeon B, Doco-Fenzy M, Doray B, Feillet F, Gardeazabal J, Gener B, Julia S, Llano-Rivas I, Mazur A, Michot C, Renaldo-Robin F, Rossi M, Sabouraud P, Keren B, Depienne C, Muller J, Mandel JL, Laugel V. Calmels N, et al. Among authors: sabouraud p. Orphanet J Rare Dis. 2016 Mar 22;11:26. doi: 10.1186/s13023-016-0408-0. Orphanet J Rare Dis. 2016. PMID: 27004399 Free PMC article.
27 results