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Page 1
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium; Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium; Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB. Heinzen EL, et al. Among authors: murphy kj. Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842232 Free PMC article.
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, Collins A, DeBrosse SD, Galas D, Friedman J, Hood L, Huff C, Jorde LB, King MD, LaSalle B, Leventer RJ, Lewelt AJ, Massart MB, Mérida MR 2nd, Ptáček LJ, Roach JC, Rust RS, Renault F, Sanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ. Viollet L, et al. Among authors: murphy kj. PLoS One. 2015 May 21;10(5):e0127045. doi: 10.1371/journal.pone.0127045. eCollection 2015. PLoS One. 2015. PMID: 25996915 Free PMC article.
Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, Collins A, DeBrosse SD, Galas D, Friedman J, Hood L, Huff C, Jorde LB, King MD, LaSalle B, Leventer RJ, Lewelt AJ, Massart MB, Mérida MR 2nd, Ptáček LJ, Roach JC, Rust RS, Renault F, Sanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ. Viollet L, et al. Among authors: murphy kj. PLoS One. 2015 Aug 31;10(8):e0137370. doi: 10.1371/journal.pone.0137370. eCollection 2015. PLoS One. 2015. PMID: 26322789 Free PMC article. No abstract available.
Alpha-synuclein loss in spinal muscular atrophy.
Acsadi G, Li X, Murphy KJ, Swoboda KJ, Parker GC. Acsadi G, et al. Among authors: murphy kj. J Mol Neurosci. 2011 Mar;43(3):275-83. doi: 10.1007/s12031-010-9422-1. Epub 2010 Jul 17. J Mol Neurosci. 2011. PMID: 20640532 Free PMC article.
Glucose metabolism and pancreatic defects in spinal muscular atrophy.
Bowerman M, Swoboda KJ, Michalski JP, Wang GS, Reeks C, Beauvais A, Murphy K, Woulfe J, Screaton RA, Scott FW, Kothary R. Bowerman M, et al. Among authors: murphy k. Ann Neurol. 2012 Aug;72(2):256-68. doi: 10.1002/ana.23582. Ann Neurol. 2012. PMID: 22926856 Free PMC article.
Tumor Biomechanics Alters Metastatic Dissemination of Triple Negative Breast Cancer via Rewiring Fatty Acid Metabolism.
Filipe EC, Velayuthar S, Philp A, Nobis M, Latham SL, Parker AL, Murphy KJ, Wyllie K, Major GS, Contreras O, Mok ETY, Enriquez RF, McGowan S, Feher K, Quek LE, Hancock SE, Yam M, Tran E, Setargew YFI, Skhinas JN, Chitty JL, Phimmachanh M, Han JZR, Cadell AL, Papanicolaou M, Mahmodi H, Kiedik B, Junankar S, Ross SE, Lam N, Coulson R, Yang J, Zaratzian A, Da Silva AM, Tayao M, Chin IL, Cazet A, Kansara M, Segara D, Parker A, Hoy AJ, Harvey RP, Bogdanovic O, Timpson P, Croucher DR, Lim E, Swarbrick A, Holst J, Turner N, Choi YS, Kabakova IV, Philp A, Cox TR. Filipe EC, et al. Among authors: murphy kj. Adv Sci (Weinh). 2024 Apr 11:e2307963. doi: 10.1002/advs.202307963. Online ahead of print. Adv Sci (Weinh). 2024. PMID: 38602451
Perspective: Peer Evaluation of Recommendations for CONSORT Guidelines for Randomized Controlled Trials in Nutrition.
Weaver C, Ahles S, Murphy KJ, Shyam S, Cade J, Plat J, Schwingshackl L, Roche HM, Lachat C, Minihane AM, Rigutto-Farebrother J; Federation of Nutritional Sciences (FENS) Working Groups on Improving Standards in the Science of Nutrition. Weaver C, et al. Among authors: murphy kj. Adv Nutr. 2024 Jan;15(1):100154. doi: 10.1016/j.advnut.2023.100154. Epub 2023 Nov 21. Adv Nutr. 2024. PMID: 37996044 Free PMC article.
447 results