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Conflict of Interest Disclosures.
[No authors listed] [No authors listed] Global Spine J. 2023 May;13(2_suppl):568S-591S. doi: 10.1177/21925682231173597. Global Spine J. 2023. PMID: 37222100 Free PMC article. No abstract available.
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, Billette de Villemeur T, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint Martin A, El Chehadeh S, Chelly J, Guët A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Bar C, et al. Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct 4. Hum Mutat. 2020. PMID: 31513310 Free article. Review.
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Jia X, Zhang S, Tan S, Du B, He M, Qin H, Chen J, Duan X, Luo J, Chen F, Ouyang L, Wang J, Chen G, Yu B, Zhang G, Zhang Z, Lyu Y, Huang Y, Jiao J, Chen JYH, Swoboda KJ, Agolini E, Novelli A, Leoni C, Zampino G, Cappuccio G, Brunetti-Pierri N, Gerard B, Ginglinger E, Richer J, McMillan H, White-Brown A, Hoekzema K, Bernier RA, Kurtz-Nelson EC, Earl RK, Meddens C, Alders M, Fuchs M, Caumes R, Brunelle P, Smol T, Kuehl R, Day-Salvatore DL, Monaghan KG, Morrow MM, Eichler EE, Hu Z, Yuan L, Tan J, Xia K, Shen Y, Guo H. Jia X, et al. Sci Adv. 2022 Aug 19;8(33):eabo7112. doi: 10.1126/sciadv.abo7112. Epub 2022 Aug 17. Sci Adv. 2022. PMID: 35977029 Free PMC article.
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. Epilepsia. 2020 Nov;61(11):2461-2473. doi: 10.1111/epi.16679. Epub 2020 Sep 21. Epilepsia. 2020. PMID: 32954514 Free article.
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Cioclu MC, Mosca I, Ambrosino P, Puzo D, Bayat A, Wortmann SB, Koch J, Strehlow V, Shirai K, Matsumoto N, Sanders SJ, Michaud V, Legendre M, Riva A, Striano P, Muhle H, Pendziwiat M, Lesca G, Mangano GD, Nardello R; KCNT2-study group; Lemke JR, Møller RS, Soldovieri MV, Rubboli G, Taglialatela M. Cioclu MC, et al. Ann Neurol. 2023 Aug;94(2):332-349. doi: 10.1002/ana.26662. Epub 2023 May 22. Ann Neurol. 2023. PMID: 37062836
Response to Beretich and Beretich.
Vockley J, Brunetti-Pierri N, Chung WK, Clarke AJ, Gold N, Green RC, Kagan S, Moroz T, Schaaf CP, Schulz M, De Baere E. Vockley J, et al. Genet Med. 2023 Oct;25(10):100903. doi: 10.1016/j.gim.2023.100903. Epub 2023 May 25. Genet Med. 2023. PMID: 37245089 No abstract available.
Interaction between the FTO gene, body mass index and depression: meta-analysis of 13701 individuals.
Rivera M, Locke AE, Corre T, Czamara D, Wolf C, Ching-Lopez A, Milaneschi Y, Kloiber S, Cohen-Woods S, Rucker J, Aitchison KJ, Bergmann S, Boomsma DI, Craddock N, Gill M, Holsboer F, Hottenga JJ, Korszun A, Kutalik Z, Lucae S, Maier W, Mors O, Müller-Myhsok B, Owen MJ, Penninx BWJH, Preisig M, Rice J, Rietschel M, Tozzi F, Uher R, Vollenweider P, Waeber G, Willemsen G, Craig IW, Farmer AE, Lewis CM, Breen G, McGuffin P. Rivera M, et al. Br J Psychiatry. 2017 Aug;211(2):70-76. doi: 10.1192/bjp.bp.116.183475. Epub 2017 Jun 22. Br J Psychiatry. 2017. PMID: 28642257 Free PMC article. Review.
OMERACT Core outcome measurement set for shared decision making in rheumatic and musculoskeletal conditions: a scoping review to identify candidate instruments.
Naye F, Toupin-April K, de Wit M, LeBlanc A, Dubois O, Boonen A, Barton JL, Fraenkel L, Li LC, Stacey D, March L, Barber CEH, Hazlewood GS, Guillemin F, Bartlett SJ, Berthelsen DB, Mather K, Arnaud L, Akpabio A, Adebajo A, Schultz G, Sloan VS, Gill TK, Sharma S, Scholte-Voshaar M, Caso F, Nikiphorou E, Nasef SI, Campbell W, Meara A, Christensen R, Suarez-Almazor ME, Jull JE, Alten R, Morgan EM, El-Miedany Y, Singh JA, Burt J, Jayatilleke A, Hmamouchi I, Blanco FJ, Fernandez AP, Mackie S, Jones A, Strand V, Monti S, Stones SR, Lee RR, Nielsen SM, Evans V, Srinivasalu H, Gérard T, Demers JL, Bouchard R, Stefan T, Dugas M, Bergeron F, Beaton D, Maxwell LJ, Tugwell P, Décary S. Naye F, et al. Semin Arthritis Rheum. 2024 Apr;65:152344. doi: 10.1016/j.semarthrit.2023.152344. Epub 2023 Dec 16. Semin Arthritis Rheum. 2024. PMID: 38232625 Review.
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