Etiology
Juliá-Palacios N,
Olivella M,
Sigatullina Bondarenko M,
Ibáñez-Micó S,
Muñoz-Cabello B,
Alonso-Luengo O,
Soto-Insuga V,
García-Navas D,
Cuesta-Herraiz L,
Andreo-Lillo P,
Aguilera-Albesa S,
Hedrera-Fernández A,
González Alguacil E,
Sánchez-Carpintero R,
Martín Del Valle F,
Jiménez González E,
Cean Cabrera L,
Medina-Rivera I,
Perez-Ordoñez M,
Colomé R,
Lopez L,
Engracia Cazorla M,
Fornaguera M,
Ormazabal A,
Alonso-Colmenero I,
Illescas KS,
Balsells-Mejía S,
Mari-Vico R,
Duffo Viñas M,
Cappuccio G,
Terrone G,
Romano R,
Manti F,
Mastrangelo M,
Alfonsi C,
de Siqueira Barros B,
Nizon M,
Gjerulfsen CE,
Muro VL,
Karall D,
Zeiner F,
Masnada S,
Peterlongo I,
Oyarzábal A,
Santos-Gómez A,
Altafaj X,
García-Cazorla Á
Brain
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PMID: 38380699
Cheon H,
Xing JC,
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Ung J,
Chan VW,
Chung DS,
Toro MF,
Elghawy O,
Wang JS,
Hamele CE,
Hardison RC,
Olson TL,
Tan SF,
Feith DJ,
Ratan A,
Loughran TP
Blood
2022 May 19;139(20):3058-3072.
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PMID: 35015834Free PMC Article
van Rheenen W,
van der Spek RAA,
Bakker MK,
van Vugt JJFA,
Hop PJ,
Zwamborn RAJ,
de Klein N,
Westra HJ,
Bakker OB,
Deelen P,
Shireby G,
Hannon E,
Moisse M,
Baird D,
Restuadi R,
Dolzhenko E,
Dekker AM,
Gawor K,
Westeneng HJ,
Tazelaar GHP,
van Eijk KR,
Kooyman M,
Byrne RP,
Doherty M,
Heverin M,
Al Khleifat A,
Iacoangeli A,
Shatunov A,
Ticozzi N,
Cooper-Knock J,
Smith BN,
Gromicho M,
Chandran S,
Pal S,
Morrison KE,
Shaw PJ,
Hardy J,
Orrell RW,
Sendtner M,
Meyer T,
Başak N,
van der Kooi AJ,
Ratti A,
Fogh I,
Gellera C,
Lauria G,
Corti S,
Cereda C,
Sproviero D,
D'Alfonso S,
Sorarù G,
Siciliano G,
Filosto M,
Padovani A,
Chiò A,
Calvo A,
Moglia C,
Brunetti M,
Canosa A,
Grassano M,
Beghi E,
Pupillo E,
Logroscino G,
Nefussy B,
Osmanovic A,
Nordin A,
Lerner Y,
Zabari M,
Gotkine M,
Baloh RH,
Bell S,
Vourc'h P,
Corcia P,
Couratier P,
Millecamps S,
Meininger V,
Salachas F,
Mora Pardina JS,
Assialioui A,
Rojas-García R,
Dion PA,
Ross JP,
Ludolph AC,
Weishaupt JH,
Brenner D,
Freischmidt A,
Bensimon G,
Brice A,
Durr A,
Payan CAM,
Saker-Delye S,
Wood NW,
Topp S,
Rademakers R,
Tittmann L,
Lieb W,
Franke A,
Ripke S,
Braun A,
Kraft J,
Whiteman DC,
Olsen CM,
Uitterlinden AG,
Hofman A,
Rietschel M,
Cichon S,
Nöthen MM,
Amouyel P;
SLALOM Consortium;
PARALS Consortium;
SLAGEN Consortium;
SLAP Consortium,
Traynor BJ,
Singleton AB,
Mitne Neto M,
Cauchi RJ,
Ophoff RA,
Wiedau-Pazos M,
Lomen-Hoerth C,
van Deerlin VM,
Grosskreutz J,
Roediger A,
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Jörk A,
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Ilse B,
Stubendorff B,
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Steinbach R,
Hübner CA,
Graff C,
Brylev L,
Fominykh V,
Demeshonok V,
Ataulina A,
Rogelj B,
Koritnik B,
Zidar J,
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Drory V,
Povedano M,
Blair IP,
Kiernan MC,
Benyamin B,
Henderson RD,
Furlong S,
Mathers S,
McCombe PA,
Needham M,
Ngo ST,
Nicholson GA,
Pamphlett R,
Rowe DB,
Steyn FJ,
Williams KL,
Mather KA,
Sachdev PS,
Henders AK,
Wallace L,
de Carvalho M,
Pinto S,
Petri S,
Weber M,
Rouleau GA,
Silani V,
Curtis CJ,
Breen G,
Glass JD,
Brown RH Jr,
Landers JE,
Shaw CE,
Andersen PM,
Groen EJN,
van Es MA,
Pasterkamp RJ,
Fan D,
Garton FC,
McRae AF,
Davey Smith G,
Gaunt TR,
Eberle MA,
Mill J,
McLaughlin RL,
Hardiman O,
Kenna KP,
Wray NR,
Tsai E,
Runz H,
Franke L,
Al-Chalabi A,
Van Damme P,
van den Berg LH,
Veldink JH
Nat Genet
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Nikolaus S,
Schulte B,
Al-Massad N,
Thieme F,
Schulte DM,
Bethge J,
Rehman A,
Tran F,
Aden K,
Häsler R,
Moll N,
Schütze G,
Schwarz MJ,
Waetzig GH,
Rosenstiel P,
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Gastroenterology
2017 Dec;153(6):1504-1516.e2.
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Bilguvar K,
Ohgaki R,
Kanai Y,
Johansen A,
Esharif S,
Ben-Omran T,
Topcu M,
Schlessinger A,
Indiveri C,
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Caglayan AO,
Gunel M,
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Novarino G
Cell
2016 Dec 1;167(6):1481-1494.e18.
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Diagnosis
Wang Z,
Ouyang L,
Liu N,
Li T,
Yan B,
Mao C,
Xiao D,
Gan B,
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Oncogene
2023 Sep;42(36):2688-2700.
Epub 2023 Aug 3
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PMID: 37537342
Elhawary NA,
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Abumansour IS,
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Hum Genomics
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Minhajuddin M,
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Blood
2022 Jan 27;139(4):584-596.
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PMID: 34525179Free PMC Article
Nikolaus S,
Schulte B,
Al-Massad N,
Thieme F,
Schulte DM,
Bethge J,
Rehman A,
Tran F,
Aden K,
Häsler R,
Moll N,
Schütze G,
Schwarz MJ,
Waetzig GH,
Rosenstiel P,
Krawczak M,
Szymczak S,
Schreiber S
Gastroenterology
2017 Dec;153(6):1504-1516.e2.
Epub 2017 Aug 19
doi: 10.1053/j.gastro.2017.08.028.
PMID: 28827067
Elmonem MA,
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Orphanet J Rare Dis
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Therapy
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AlJahdali IA,
Abumansour IS,
Elhawary EN,
Gaboon N,
Dandini M,
Madkhali A,
Alosaimi W,
Alzahrani A,
Aljohani F,
Melibary EM,
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Hum Genomics
2022 Jul 19;16(1):22.
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PMID: 35854334Free PMC Article
van Rheenen W,
van der Spek RAA,
Bakker MK,
van Vugt JJFA,
Hop PJ,
Zwamborn RAJ,
de Klein N,
Westra HJ,
Bakker OB,
Deelen P,
Shireby G,
Hannon E,
Moisse M,
Baird D,
Restuadi R,
Dolzhenko E,
Dekker AM,
Gawor K,
Westeneng HJ,
Tazelaar GHP,
van Eijk KR,
Kooyman M,
Byrne RP,
Doherty M,
Heverin M,
Al Khleifat A,
Iacoangeli A,
Shatunov A,
Ticozzi N,
Cooper-Knock J,
Smith BN,
Gromicho M,
Chandran S,
Pal S,
Morrison KE,
Shaw PJ,
Hardy J,
Orrell RW,
Sendtner M,
Meyer T,
Başak N,
van der Kooi AJ,
Ratti A,
Fogh I,
Gellera C,
Lauria G,
Corti S,
Cereda C,
Sproviero D,
D'Alfonso S,
Sorarù G,
Siciliano G,
Filosto M,
Padovani A,
Chiò A,
Calvo A,
Moglia C,
Brunetti M,
Canosa A,
Grassano M,
Beghi E,
Pupillo E,
Logroscino G,
Nefussy B,
Osmanovic A,
Nordin A,
Lerner Y,
Zabari M,
Gotkine M,
Baloh RH,
Bell S,
Vourc'h P,
Corcia P,
Couratier P,
Millecamps S,
Meininger V,
Salachas F,
Mora Pardina JS,
Assialioui A,
Rojas-García R,
Dion PA,
Ross JP,
Ludolph AC,
Weishaupt JH,
Brenner D,
Freischmidt A,
Bensimon G,
Brice A,
Durr A,
Payan CAM,
Saker-Delye S,
Wood NW,
Topp S,
Rademakers R,
Tittmann L,
Lieb W,
Franke A,
Ripke S,
Braun A,
Kraft J,
Whiteman DC,
Olsen CM,
Uitterlinden AG,
Hofman A,
Rietschel M,
Cichon S,
Nöthen MM,
Amouyel P;
SLALOM Consortium;
PARALS Consortium;
SLAGEN Consortium;
SLAP Consortium,
Traynor BJ,
Singleton AB,
Mitne Neto M,
Cauchi RJ,
Ophoff RA,
Wiedau-Pazos M,
Lomen-Hoerth C,
van Deerlin VM,
Grosskreutz J,
Roediger A,
Gaur N,
Jörk A,
Barthel T,
Theele E,
Ilse B,
Stubendorff B,
Witte OW,
Steinbach R,
Hübner CA,
Graff C,
Brylev L,
Fominykh V,
Demeshonok V,
Ataulina A,
Rogelj B,
Koritnik B,
Zidar J,
Ravnik-Glavač M,
Glavač D,
Stević Z,
Drory V,
Povedano M,
Blair IP,
Kiernan MC,
Benyamin B,
Henderson RD,
Furlong S,
Mathers S,
McCombe PA,
Needham M,
Ngo ST,
Nicholson GA,
Pamphlett R,
Rowe DB,
Steyn FJ,
Williams KL,
Mather KA,
Sachdev PS,
Henders AK,
Wallace L,
de Carvalho M,
Pinto S,
Petri S,
Weber M,
Rouleau GA,
Silani V,
Curtis CJ,
Breen G,
Glass JD,
Brown RH Jr,
Landers JE,
Shaw CE,
Andersen PM,
Groen EJN,
van Es MA,
Pasterkamp RJ,
Fan D,
Garton FC,
McRae AF,
Davey Smith G,
Gaunt TR,
Eberle MA,
Mill J,
McLaughlin RL,
Hardiman O,
Kenna KP,
Wray NR,
Tsai E,
Runz H,
Franke L,
Al-Chalabi A,
Van Damme P,
van den Berg LH,
Veldink JH
Nat Genet
2021 Dec;53(12):1636-1648.
Epub 2021 Dec 6
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PMID: 34873335Free PMC Article
Zhang Z,
Xu X,
Tian W,
Jiang R,
Lu Y,
Sun Q,
Fu R,
He Q,
Wang J,
Liu Y,
Yu H,
Sun B
J Hepatol
2020 May;72(5):976-989.
Epub 2019 Dec 16
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PMID: 31857195
Tărlungeanu DC,
Deliu E,
Dotter CP,
Kara M,
Janiesch PC,
Scalise M,
Galluccio M,
Tesulov M,
Morelli E,
Sonmez FM,
Bilguvar K,
Ohgaki R,
Kanai Y,
Johansen A,
Esharif S,
Ben-Omran T,
Topcu M,
Schlessinger A,
Indiveri C,
Duncan KE,
Caglayan AO,
Gunel M,
Gleeson JG,
Novarino G
Cell
2016 Dec 1;167(6):1481-1494.e18.
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PMID: 27912058Free PMC Article
Contin M,
Martinelli P
J Neurol
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Prognosis
Wong CC,
Xu J,
Bian X,
Wu JL,
Kang W,
Qian Y,
Li W,
Chen H,
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Liu D,
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Zhou Q,
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Gastroenterology
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Jégo P,
Vigneron PA,
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Toussay X,
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Balbastre Y,
Piquet J,
Guiot E,
Tran NT,
Taverna M,
Marinesco S,
Koyanagi A,
Furuya S,
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Goutal S,
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Cell Metab
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Raundhal M,
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Konrad C,
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Crowley MJP,
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Nature
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Nikolaus S,
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Al-Massad N,
Thieme F,
Schulte DM,
Bethge J,
Rehman A,
Tran F,
Aden K,
Häsler R,
Moll N,
Schütze G,
Schwarz MJ,
Waetzig GH,
Rosenstiel P,
Krawczak M,
Szymczak S,
Schreiber S
Gastroenterology
2017 Dec;153(6):1504-1516.e2.
Epub 2017 Aug 19
doi: 10.1053/j.gastro.2017.08.028.
PMID: 28827067
Liang J,
Cao R,
Wang X,
Zhang Y,
Wang P,
Gao H,
Li C,
Yang F,
Zeng R,
Wei P,
Li D,
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Yang W
Cell Res
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Clinical prediction guides
Cheon H,
Xing JC,
Moosic KB,
Ung J,
Chan VW,
Chung DS,
Toro MF,
Elghawy O,
Wang JS,
Hamele CE,
Hardison RC,
Olson TL,
Tan SF,
Feith DJ,
Ratan A,
Loughran TP
Blood
2022 May 19;139(20):3058-3072.
doi: 10.1182/blood.2021013164.
PMID: 35015834Free PMC Article
Zhang Z,
Xu X,
Tian W,
Jiang R,
Lu Y,
Sun Q,
Fu R,
He Q,
Wang J,
Liu Y,
Yu H,
Sun B
J Hepatol
2020 May;72(5):976-989.
Epub 2019 Dec 16
doi: 10.1016/j.jhep.2019.12.004.
PMID: 31857195
Yan R,
Zhao X,
Lei J,
Zhou Q
Nature
2019 Apr;568(7750):127-130.
Epub 2019 Mar 13
doi: 10.1038/s41586-019-1011-z.
PMID: 30867591
Nikolaus S,
Schulte B,
Al-Massad N,
Thieme F,
Schulte DM,
Bethge J,
Rehman A,
Tran F,
Aden K,
Häsler R,
Moll N,
Schütze G,
Schwarz MJ,
Waetzig GH,
Rosenstiel P,
Krawczak M,
Szymczak S,
Schreiber S
Gastroenterology
2017 Dec;153(6):1504-1516.e2.
Epub 2017 Aug 19
doi: 10.1053/j.gastro.2017.08.028.
PMID: 28827067
Contin M,
Martinelli P
J Neurol
2010 Nov;257(Suppl 2):S253-61.
doi: 10.1007/s00415-010-5728-8.
PMID: 21080186