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87 results

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Page 1
Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
Megat S, Mora N, Sanogo J, Roman O, Catanese A, Alami NO, Freischmidt A, Mingaj X, De Calbiac H, Muratet F, Dirrig-Grosch S, Dieterle S, Van Bakel N, Müller K, Sieverding K, Weishaupt J, Andersen PM, Weber M, Neuwirth C, Margelisch M, Sommacal A, Van Eijk KR, Veldink JH; Project Mine Als Sequencing Consortium; Lautrette G, Couratier P, Camuzat A, Le Ber I, Grassano M, Chio A, Boeckers T, Ludolph AC, Roselli F, Yilmazer-Hanke D, Millecamps S, Kabashi E, Storkebaum E, Sellier C, Dupuis L. Megat S, et al. Among authors: kabashi e. Nat Commun. 2023 Jan 20;14(1):342. doi: 10.1038/s41467-022-35724-1. Nat Commun. 2023. PMID: 36670122 Free PMC article.
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. Among authors: kabashi e. 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.
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: kabashi e. Epilepsia. 2020 Nov;61(11):2461-2473. doi: 10.1111/epi.16679. Epub 2020 Sep 21. Epilepsia. 2020. PMID: 32954514 Free article.
Poly(A)-binding protein is an ataxin-2 chaperone that regulates biomolecular condensates.
Boeynaems S, Dorone Y, Zhuang Y, Shabardina V, Huang G, Marian A, Kim G, Sanyal A, Şen NE, Griffith D, Docampo R, Lasker K, Ruiz-Trillo I, Auburger G, Holehouse AS, Kabashi E, Lin Y, Gitler AD. Boeynaems S, et al. Among authors: kabashi e. Mol Cell. 2023 Jun 15;83(12):2020-2034.e6. doi: 10.1016/j.molcel.2023.05.025. Epub 2023 Jun 8. Mol Cell. 2023. PMID: 37295429 Free PMC article.
ALSUntangled No. 30: methylcobalamin.
ALSUntangled Group. ALSUntangled Group. Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(7-8):536-9. doi: 10.3109/21678421.2015.1070574. Epub 2015 Jul 23. Amyotroph Lateral Scler Frontotemporal Degener. 2015. PMID: 26203660 Review. No abstract available.
Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1.
Restuadi R, Steyn FJ, Kabashi E, Ngo ST, Cheng FF, Nabais MF, Thompson MJ, Qi T, Wu Y, Henders AK, Wallace L, Bye CR, Turner BJ, Ziser L, Mathers S, McCombe PA, Needham M, Schultz D, Kiernan MC, van Rheenen W, van den Berg LH, Veldink JH, Ophoff R, Gusev A, Zaitlen N, McRae AF, Henderson RD, Wray NR, Giacomotto J, Garton FC. Restuadi R, et al. Among authors: kabashi e. Genome Med. 2022 Jan 19;14(1):7. doi: 10.1186/s13073-021-01006-6. Genome Med. 2022. PMID: 35042540 Free PMC article.
ALSUntangled No. 22: Propofol.
ALSUntangled Group. ALSUntangled Group. Amyotroph Lateral Scler Frontotemporal Degener. 2013 Dec;14(7-8):640-2. doi: 10.3109/21678421.2013.826469. Epub 2013 Aug 23. Amyotroph Lateral Scler Frontotemporal Degener. 2013. PMID: 23971884 Review. No abstract available.
Author Correction: Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
Megat S, Mora N, Sanogo J, Roman O, Catanese A, Alami NO, Freischmidt A, Mingaj X, De Calbiac H, Muratet F, Dirrig-Grosch S, Dieterle S, Van Bakel N, Müller K, Sieverding K, Weishaupt J, Andersen PM, Weber M, Neuwirth C, Margelisch M, Sommacal A, Van Eijk KR, Veldink JH; Project Mine Als Sequencing Consortium; Lautrette G, Couratier P, Camuzat A, Le Ber I, Grassano M, Chio A, Boeckers T, Ludolph AC, Roselli F, Yilmazer-Hanke D, Millecamps S, Kabashi E, Storkebaum E, Sellier C, Dupuis L. Megat S, et al. Among authors: kabashi e. Nat Commun. 2023 Dec 4;14(1):8026. doi: 10.1038/s41467-023-43710-4. Nat Commun. 2023. PMID: 38049418 Free PMC article. No abstract available.
ALSUntangled No. 16: cannabis.
ALSUntangled Group. ALSUntangled Group. Amyotroph Lateral Scler. 2012 Jun;13(4):400-4. doi: 10.3109/17482968.2012.687264. Amyotroph Lateral Scler. 2012. PMID: 22632446 Review. No abstract available.
87 results