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Year Number of Results
1974 1
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2001 2
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2008 4
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73 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.
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.
Magrinelli F, Tesson C, Angelova PR, Rodriguez JA, Scardamaglia A, O'Callaghan B, Lowe SA, Salazar-Villacorta A, Chung BH, Jaconelli M, Vona B, Esteras N, Mammana A, Shimazu J, Kwong AK, Courtin T, Alavi S, Maroofian R, Nirujogi R, Severino M, Monfrini E, Rocca C, Lewis PA, Efthymiou S, Buchert R, Sofan L, Lis P, Pinon C, Breedveld GJ, Chui MM, Murphy D, Pitz V, Makarious MB, Baiardi S, Volin M, Cassar M, Hassan BA, Iftikhar S, Bauer P, Tinazzi M, Svetel M, Samanci B, Hanağası HA, Bilgiç B, Cavallieri F, Santangelo M, Obeso JA, Kurtis MM, Cogan G, Kiziltan G, Gül-Demirkale T, Tireli H, Yüksel GA, Yalçın-Cakmakli G, Elibol B, Barišić N, Ng EW, Fan SS, Hershkovitz T, Weiss K, Alvi JR, Sultan T, Alkhawaja IA, Froukh T, Alrukban HAE, Fauth C, Schatz UA, Zöggeler T, Zech M, Stals K, Varghese V, Gandhi S, Blauwendraat C, Hardy JA, Di Fonzo A, Bonifati V, Haack TB, Bertoli-Avella AM, Lesage S, Başak AN, Steinfeld R, Parchi P, Jepson JEC, Alessi DR; PSMF1 Study Group; Brice A, Steller H, Abramov AY, Bhatia KP, Houlden H. Magrinelli F, et al. Among authors: o callaghan b. medRxiv [Preprint]. 2025 Jul 21:2024.06.19.24308302. doi: 10.1101/2024.06.19.24308302. medRxiv. 2025. PMID: 39148840 Free PMC article. Preprint.
Metabolic remodeling in hiPSC-derived myofibers carrying the m.3243A>G mutation.
Valdebenito GE, Chacko AR, Chung CY, Sheshadri P, Chi H, O'Callaghan B, Madej MJ, Houlden H, Rouse H, Morales V, Bianchi K, Tedesco FS, Pitceathly RDS, Duchen MR. Valdebenito GE, et al. Among authors: o callaghan b. Stem Cell Reports. 2025 Apr 8;20(4):102448. doi: 10.1016/j.stemcr.2025.102448. Epub 2025 Mar 13. Stem Cell Reports. 2025. PMID: 40086445 Free PMC article.
73 results