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1974 1
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67 results

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Page 1
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
Mapping SCA1 regional vulnerabilities reveals neural and skeletal muscle contributions to disease.
Duvick L, Southern WM, Benzow KA, Burch ZN, Handler HP, Mitchell JS, Kuivinen H, Gadiparthi U, Yang P, Soles A, Sheeler CA, Rainwater O, Serres S, Lind EB, Nichols-Meade T, You Y, O'Callaghan B, Zoghbi HY, Cvetanovic M, Wheeler VC, Ervasti JM, Koob MD, Orr HT. Duvick L, et al. Among authors: o callaghan b. JCI Insight. 2024 Mar 21;9(9):e176057. doi: 10.1172/jci.insight.176057. JCI Insight. 2024. PMID: 38512434 Free PMC article.
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways.
Magrinelli F, Tesson C, Angelova PR, Salazar-Villacorta A, Rodriguez JA, Scardamaglia A, Chung BH, Jaconelli M, Vona B, Esteras N, Kwong AK, Courtin T, Maroofian R, Alavi S, Nirujogi R, Severino M, Lewis PA, Efthymiou S, O'Callaghan B, Buchert R, Sofan L, Lis P, Pinon C, Breedveld GJ, Chui MM, Murphy D, Pitz V, Makarious MB, Cassar M, Hassan BA, Iftikhar S, Rocca C, Bauer P, Tinazzi M, Svetel M, Samanci B, Hanağası HA, Bilgiç B, Obeso JA, Kurtis MM, Cogan G, Başak AN, Kiziltan G, Gül T, Yalçın G, Elibol B, Barišić N, Ng EW, Fan SS, Hershkovitz T, Weiss K, Raza Alvi J, Sultan T, Azmi Alkhawaja I, Froukh T, E Alrukban HA, Fauth C, Schatz UA, Zöggeler T, Zech M, Stals K, Varghese V, Gandhi S, Blauwendraat C, Hardy JA, Lesage S, Bonifati V, Haack TB, Bertoli-Avella AM, Steinfeld R, Alessi DR, Steller H, Brice A, Abramov AY, Bhatia KP, Houlden H. Magrinelli F, et al. Among authors: o callaghan b. medRxiv [Preprint]. 2024 Jun 20:2024.06.19.24308302. doi: 10.1101/2024.06.19.24308302. medRxiv. 2024. PMID: 39148840 Free PMC article. Preprint.
PINK1: From Parkinson's disease to mitophagy and back again.
O'Callaghan B, Hardy J, Plun-Favreau H. O'Callaghan B, et al. PLoS Biol. 2023 Jun 29;21(6):e3002196. doi: 10.1371/journal.pbio.3002196. eCollection 2023 Jun. PLoS Biol. 2023. PMID: 37384773 Free PMC article.
From COVID-19 to Green Recovery with natural capital accounting.
Vardon M, Lucas P, Bass S, Agarwala M, Bassi AM, Coyle D, Dvarskas A, Farrell CA, Greenfield O, King S, Lok M, Obst C, O'Callaghan B, Portela R, Siikamäki J. Vardon M, et al. Among authors: o callaghan b. Ambio. 2023 Jan;52(1):15-29. doi: 10.1007/s13280-022-01757-5. Epub 2022 Jul 27. Ambio. 2023. PMID: 35882751 Free PMC article.
Evaluating gamekeeper's thumb injuries.
O'Callaghan BI. O'Callaghan BI. Am J Sports Med. 1997 Mar-Apr;25(2):275. doi: 10.1177/036354659702500225. Am J Sports Med. 1997. PMID: 9079187 No abstract available.
67 results