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474 results

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Page 1
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Sajan SA, Gradisch R, Vogel FD, Coffey AJ, Salyakina D, Soler D, Jayakar P, Jayakar A, Bianconi SE, Cooper AH, Liu S, William N, Benkel-Herrenbrück I, Maiwald R, Heller C, Biskup S, Leiz S, Westphal DS, Wagner M, Clarke A, Stockner T, Ernst M, Kesari A, Krenn M. Sajan SA, et al. Among authors: heller c. Eur J Hum Genet. 2024 Apr 2. doi: 10.1038/s41431-024-01600-3. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38565639
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Calame DG, Moreno Vadillo C, Berger S, Lotze T, Shinawi M, Poupak J, Heller C, Cohen J, Person R, Telegrafi A, Phitsanuwong C, Fiala K, Thiffault I, Del Viso F, Zhou D, Fleming EA, Pastinen T, Fatemi A, Thomas S, Pascual SI, Torres RJ, Prior C, Gómez-González C, Biskup S, Lupski JR, Maric D, Holmgren M, Regier D, Yano ST. Calame DG, et al. Among authors: heller c. Brain. 2023 Aug 1;146(8):3162-3171. doi: 10.1093/brain/awad124. Brain. 2023. PMID: 37043503 Free PMC article.
Challenges in IBD Research 2024: Precision Medicine.
Syed S, Boland BS, Bourke LT, Chen LA, Churchill L, Dobes A, Greene A, Heller C, Jayson C, Kostiuk B, Moss A, Najdawi F, Plung L, Rioux JD, Rosen MJ, Torres J, Zulqarnain F, Satsangi J. Syed S, et al. Among authors: heller c. Inflamm Bowel Dis. 2024 May 23;30(Supplement_2):S39-S54. doi: 10.1093/ibd/izae084. Inflamm Bowel Dis. 2024. PMID: 38778628 Review.
Challenges in IBD Research 2024: Preclinical Human IBD Mechanisms.
Ciorba MA, Konnikova L, Hirota SA, Lucchetta EM, Turner JR, Slavin A, Johnson K, Condray CD, Hong S, Cressall BK, Pizarro TT, Hurtado-Lorenzo A, Heller CA, Moss AC, Swantek JL, Garrett WS. Ciorba MA, et al. Among authors: heller ca. Inflamm Bowel Dis. 2024 May 23;30(Supplement_2):S5-S18. doi: 10.1093/ibd/izae081. Inflamm Bowel Dis. 2024. PMID: 38778627 Review.
Overview to Challenges in IBD 2024-2029.
Heller C, Moss AC, Rubin DT. Heller C, et al. Inflamm Bowel Dis. 2024 May 23;30(Supplement_2):S1-S4. doi: 10.1093/ibd/izae092. Inflamm Bowel Dis. 2024. PMID: 38778626 Review.
Challenges in IBD Research 2024: Novel Technologies.
Prasad S, Cross RK, Monroe MB, Dolinger MT, Motte R, Hong S, Stidham RW, Kumar N, Levine D, Larijani A, Simone A, Chachu KA, Wyborski R, Heller CA, Moss AC, Schwerbrock NMJ, Selaru FM. Prasad S, et al. Among authors: heller ca. Inflamm Bowel Dis. 2024 May 23;30(Supplement_2):S30-S38. doi: 10.1093/ibd/izae082. Inflamm Bowel Dis. 2024. PMID: 38778625 Review.
Challenges in IBD Research 2024: Environmental Triggers.
Ananthakrishnan AN, Gerasimidis K, Ho SM, Mayer E, Pollock J, Soni S, Wu GD, Benyacoub J, Ali B, Favreau A, Smith DE, Oh JE, Heller C, Hurtado-Lorenzo A, Moss A, Croitoru K. Ananthakrishnan AN, et al. Among authors: heller c. Inflamm Bowel Dis. 2024 May 23;30(Supplement_2):S19-S29. doi: 10.1093/ibd/izae085. Inflamm Bowel Dis. 2024. PMID: 38778624 Review.
Challenges in IBD Research 2024: Pragmatic Clinical Research.
Allegretti JR, Bordeianou LG, Damas OM, Eisenstein S, Greywoode R, Minar P, Singh S, Harmon S, Lisansky E, Malone-King M, Litwin NS, Weaver A, Heller CA, Moss AC, Adler J. Allegretti JR, et al. Among authors: heller ca. Inflamm Bowel Dis. 2024 May 23;30(Supplement_2):S55-S66. doi: 10.1093/ibd/izae083. Inflamm Bowel Dis. 2024. PMID: 38778623 Review.
Investigating the structural network underlying brain-immune interactions using combined histopathology and neuroimaging: a critical review for its relevance in acute and long COVID-19.
Kikinis Z, Castañeyra-Perdomo A, González-Mora JL, Rushmore RJ, Toppa PH, Haggerty K, Papadimitriou G, Rathi Y, Kubicki M, Kikinis R, Heller C, Yeterian E, Besteher B, Pallanti S, Makris N. Kikinis Z, et al. Among authors: heller c. Front Psychiatry. 2024 Mar 25;15:1337888. doi: 10.3389/fpsyt.2024.1337888. eCollection 2024. Front Psychiatry. 2024. PMID: 38590789 Free PMC article. Review.
A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.
Swift IJ, Rademakers R, Finch N, Baker M, Ghidoni R, Benussi L, Binetti G, Rossi G, Synofzik M, Wilke C, Mengel D, Graff C, Takada LT, Sánchez-Valle R, Antonell A, Galimberti D, Fenoglio C, Serpente M, Arcaro M, Schreiber S, Vielhaber S, Arndt P, Santana I, Almeida MR, Moreno F, Barandiaran M, Gabilondo A, Stubert J, Gómez-Tortosa E, Agüero P, Sainz MJ, Gohda T, Murakoshi M, Kamei N, Kittel-Schneider S, Reif A, Weigl J, Jian J, Liu C, Serrero G, Greither T, Theil G, Lohmann E, Gazzina S, Bagnoli S, Coppola G, Bruni A, Quante M, Kiess W, Hiemisch A, Jurkutat A, Block MS, Carlson AM, Bråthen G, Sando SB, Grøntvedt GR, Lauridsen C, Heslegrave A, Heller C, Abel E, Gómez-Núñez A, Puey R, Arighi A, Rotondo E, Jiskoot LC, Meeter LHH, Durães J, Lima M, Tábuas-Pereira M, Lemos J, Boeve B, Petersen RC, Dickson DW, Graff-Radford NR, LeBer I, Sellami L, Lamari F, Clot F, Borroni B, Cantoni V, Rivolta J, Lleó A, Fortea J, Alcolea D, Illán-Gala I, Andres-Cerezo L, Van Damme P, Clarimon J, Steinacker P, Feneberg E, Otto M, van der Ende EL, van Swieten JC, Seelaar H, Zetterberg H, Sogorb-Esteve A, Rohrer JD. Swift IJ, et al. Among authors: heller c. Alzheimers Res Ther. 2024 Mar 28;16(1):66. doi: 10.1186/s13195-024-01420-z. Alzheimers Res Ther. 2024. PMID: 38539243 Free PMC article.
474 results