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Year Number of Results
1969 1
1992 4
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1994 1
1995 1
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1997 6
1998 4
1999 6
2000 2
2001 7
2002 5
2003 7
2004 5
2005 8
2006 4
2007 5
2008 6
2009 5
2010 12
2011 10
2012 8
2013 8
2014 7
2015 13
2016 8
2017 9
2018 11
2019 11
2020 8
2021 13
2022 12
2023 7
2024 7
2025 0

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196 results

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Page 1
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.
Micol R, Ben Slama L, Suarez F, Le Mignot L, Beauté J, Mahlaoui N, Dubois d'Enghien C, Laugé A, Hall J, Couturier J, Vallée L, Delobel B, Rivier F, Nguyen K, Billette de Villemeur T, Stephan JL, Bordigoni P, Bertrand Y, Aladjidi N, Pedespan JM, Thomas C, Pellier I, Koenig M, Hermine O, Picard C, Moshous D, Neven B, Lanternier F, Blanche S, Tardieu M, Debré M, Fischer A, Stoppa-Lyonnet D; CEREDIH Network Investigators. Micol R, et al. Among authors: rivier f. J Allergy Clin Immunol. 2011 Aug;128(2):382-9.e1. doi: 10.1016/j.jaci.2011.03.052. Epub 2011 Jun 12. J Allergy Clin Immunol. 2011. PMID: 21665257
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Benkirane M, Marelli C, Guissart C, Roubertie A, Ollagnon E, Choumert A, Fluchère F, Magne FO, Halleb Y, Renaud M, Larrieu L, Baux D, Patat O, Bousquet I, Ravel JM, Cuntz-Shadfar D, Sarret C, Ayrignac X, Rolland A, Morales R, Pointaux M, Lieutard-Haag C, Laurens B, Tillikete C, Bernard E, Mallaret M, Carra-Dallière C, Tranchant C, Meyer P, Damaj L, Pasquier L, Acquaviva C, Chaussenot A, Isidor B, Nguyen K, Camu W, Eusebio A, Carrière N, Riquet A, Thouvenot E, Gonzales V, Carme E, Attarian S, Odent S, Castrioto A, Ewenczyk C, Charles P, Kremer L, Sissaoui S, Bahi-Buisson N, Kaphan E, Degardin A, Doray B, Julia S, Remerand G, Fraix V, Haidar LA, Lazaro L, Laugel V, Villega F, Charlin C, Frismand S, Moreira MC, Witjas T, Francannet C, Walther-Louvier U, Fradin M, Chabrol B, Fluss J, Bieth E, Castelnovo G, Vergnet S, Meunier I, Verloes A, Brischoux-Boucher E, Coubes C, Geneviève D, Lebouc N, Azulay JP, Anheim M, Goizet C, Rivier F, Labauge P, Calvas P, Koenig M. Benkirane M, et al. Among authors: rivier f. Genet Med. 2021 Nov;23(11):2160-2170. doi: 10.1038/s41436-021-01250-6. Epub 2021 Jul 7. Genet Med. 2021. PMID: 34234304 Free article.
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Guissart C, Latypova X, Rollier P, Khan TN, Stamberger H, McWalter K, Cho MT, Kjaergaard S, Weckhuysen S, Lesca G, Besnard T, Õunap K, Schema L, Chiocchetti AG, McDonald M, de Bellescize J, Vincent M, Van Esch H, Sattler S, Forghani I, Thiffault I, Freitag CM, Barbouth DS, Cadieux-Dion M, Willaert R, Guillen Sacoto MJ, Safina NP, Dubourg C, Grote L, Carré W, Saunders C, Pajusalu S, Farrow E, Boland A, Karlowicz DH, Deleuze JF, Wojcik MH, Pressman R, Isidor B, Vogels A, Van Paesschen W, Al-Gazali L, Al Shamsi AM, Claustres M, Pujol A, Sanders SJ, Rivier F, Leboucq N, Cogné B, Sasorith S, Sanlaville D, Retterer K, Odent S, Katsanis N, Bézieau S, Koenig M, Davis EE, Pasquier L, Küry S. Guissart C, et al. Among authors: rivier f. Am J Hum Genet. 2018 May 3;102(5):744-759. doi: 10.1016/j.ajhg.2018.02.021. Epub 2018 Apr 12. Am J Hum Genet. 2018. PMID: 29656859 Free PMC article.
[Introduction].
Groupe d'étude MACVIA-LR. Groupe d'étude MACVIA-LR. Presse Med. 2015 Nov;44 Suppl 1:S1-5. doi: 10.1016/j.lpm.2015.07.014. Epub 2015 Oct 18. Presse Med. 2015. PMID: 26476754 French. No abstract available.
Ryanodine receptor dysfunction causes senescence and fibrosis in Duchenne dilated cardiomyopathy.
Souidi M, Resta J, Dridi H, Sleiman Y, Reiken S, Formoso K, Colombani S, Amédro P, Meyer P, Charrabi A, Vincenti M, Liu Y, Soni RK, Lezoualc'h F, Stéphane Blot DVM, Rivier F, Cazorla O, Parini A, Marks AR, Mialet-Perez J, Lacampagne A, Meli AC. Souidi M, et al. Among authors: rivier f. J Cachexia Sarcopenia Muscle. 2024 Apr;15(2):536-551. doi: 10.1002/jcsm.13411. Epub 2024 Jan 14. J Cachexia Sarcopenia Muscle. 2024. PMID: 38221511 Free PMC article.
Trial of Fingolimod versus Interferon Beta-1a in Pediatric Multiple Sclerosis.
Chitnis T, Arnold DL, Banwell B, Brück W, Ghezzi A, Giovannoni G, Greenberg B, Krupp L, Rostásy K, Tardieu M, Waubant E, Wolinsky JS, Bar-Or A, Stites T, Chen Y, Putzki N, Merschhemke M, Gärtner J; PARADIGMS Study Group. Chitnis T, et al. N Engl J Med. 2018 Sep 13;379(11):1017-1027. doi: 10.1056/NEJMoa1800149. N Engl J Med. 2018. PMID: 30207920 Free article. Clinical Trial.
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: rivier f. 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
Long-term outcomes of paediatric Guillain-Barré syndrome.
Estublier B, Colineaux H, Arnaud C, Cintas P, Baudou E, Chaix Y, Rivier F, Biotteau M, Meyer P, Cheuret E. Estublier B, et al. Among authors: rivier f. Dev Med Child Neurol. 2024 Feb;66(2):176-186. doi: 10.1111/dmcn.15693. Epub 2023 Jul 27. Dev Med Child Neurol. 2024. PMID: 37501281
196 results