Not logged in Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG) Finkel, Richard S.; Darras, Basil T.; Mendell, Jerry R.; Day, John W.; Kuntz, Nancy L.; Connolly, Anne M.; Zaidman, Craig M.; Crawford, Thomas O.; Butterfield, Russell J.; Shieh, Perry B.; Tennekoon, Gihan; Brandsema, John F.; Iannaccone, Susan T.; Shoffner, John; Kavanagh, Sarah; Macek, Thomas A.; Tauscher-Wisniewski, Sitra Share Save
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Management of ophthalmologic manifestations of mitochondrial diseases Response Parikh, Sumit; Goldstein, Amy; Karaa, Amel; Koenig, Mary Kay; Anselm, Irina; Brunel-Guitton, Catherine; Christodoulou, John; Cohen, Bruce H.; Dimmock, David; Enns, Gregory M.; Falk, Marni J.; Feigenbaum, Annette; Frye, Richard E.; Ganesh, Jaya; Griesemer, David; Haas, Richard; Horvath, Rita; Korson, Mark; Kruer, Michael C.; Mancuso, Michelangelo; McCormack, Shana; Raboisson, Marie Josee; Reimschisel, Tyler; Salvarinova, Ramona; Saneto, Russell P.; Scaglia, Fernando; Shoffner, John; Stacpoole, Peter W.; Sue, Carolyn M.; Tarnopolsky, Mark; Van Karnebeek, Clara; Wolfe, Lynne A.; Cunningham, Zarazuela Zolkipli; Rahman, Shamima; Chinnery, Patrick F. Share Save
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society Parikh, Sumit; Goldstein, Amy; Karaa, Amel; Koenig, Mary Kay; Anselm, Irina; Brunel-Guitton, Catherine; Christodoulou, John; Cohen, Bruce H.; Dimmock, David; Enns, Gregory M.; Falk, Marni J.; Feigenbaum, Annette; Frye, Richard E.; Ganesh, Jaya; Griesemer, David; Haas, Richard; Horvath, Rita; Korson, Mark; Kruer, Michael C.; Mancuso, Michelangelo; McCormack, Shana; Raboisson, Marie Josee; Reimschisel, Tyler; Salvarinova, Ramona; Saneto, Russell P.; Scaglia, Fernando; Shoffner, John; Stacpoole, Peter W.; Sue, Carolyn M.; Tarnopolsky, Mark; Van Karnebeek, Clara; Wolfe, Lynne A.; Cunningham, Zarazuela Zolkipli; Rahman, Shamima; Chinnery, Patrick F. Share Save
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CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autism Shoffner, John; Trommer, Barbara; Thurm, Audrey; Farmer, Cristan; Langley, William A., III; Soskey, Laura; Rodriguez, Aldeboran N.; D'Souza, Precilla; Spence, Sarah J.; Hyland, Keith; Swedo, Susan E. Share Save
A novel de novo pathogenic mutation in the CACNA1A gene Fujioka, Shinsuke; Rayaprolu, Sruti; Sundal, Christina; Broderick, Daniel F.; Langley, William A.; Shoffner, John; Hyams, Lauren C.; Rademakers, Rosa; Graff-Radford, Neill R.; Tatum, William; Ross, Owen A.; Wszolek, Zbigniew K. Share Save
Rolandic Mitochondrial Encephalomyelopathy and MT-ND3 Mutations Werner, Klaus G. E.; Morel, Chantal F.; Kirton, Adam; Benseler, Susanne M.; Shoffner, John M.; Addis, Jane B. L.; Robinson, Brian H.; Burrowes, Delilah M.; Blaser, Susan I.; Epstein, Leon G.; Feigenbaum, Annette S. J. Share Save
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Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1) Yamada, K; Andrews, C; Chan, WM; McKeown, CA; Magli, A; de Berardinis, T; Loewenstein, A; Lazar, M; O'Keefe, M; Letson, R; London, A; Ruttum, M; Matsumoto, N; Saito, N; Morris, L; Del Monte, M; Johnson, RH; Uyama, E; Houtman, WA; de Vries, B; Carlow, TJ; Hart, BL; Krawiecki, N; Shoffner, J; Vogel, MC; Katowitz, J; Goldstein, SM; Levin, AV; Sener, EC; Ozturk, BT; Akarsu, AN; Brodsky, MC; Hanisch, F; Cruse, RP; Zubcov, AA; Robb, RM; Roggenkäemper, P; Gottlob, I; Kowal, L; Battu, R; Traboulsi, EI; Franceschini, P; Newlin, A; Demer, JL; Engle, EC Share Save
Tau pathology in a family with dementia and a P301L mutation in tau Mirra, SS; Murrell, JR; Gearing, M; Spillantini, MG; Goedert, M; Crowther, A; Levey, AI; Jones, R; Green, J; Shoffner, JM; Wainer, BH; Schmidt, ML; Trojanowski, JQ; Ghetti, B Share Save
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