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Page 1
GFAP mutations, age at onset, and clinical subtypes in Alexander disease.
Prust M, Wang J, Morizono H, Messing A, Brenner M, Gordon E, Hartka T, Sokohl A, Schiffmann R, Gordish-Dressman H, Albin R, Amartino H, Brockman K, Dinopoulos A, Dotti MT, Fain D, Fernandez R, Ferreira J, Fleming J, Gill D, Griebel M, Heilstedt H, Kaplan P, Lewis D, Nakagawa M, Pedersen R, Reddy A, Sawaishi Y, Schneider M, Sherr E, Takiyama Y, Wakabayashi K, Gorospe JR, Vanderver A. Prust M, et al. Among authors: fernandez r. Neurology. 2011 Sep 27;77(13):1287-94. doi: 10.1212/WNL.0b013e3182309f72. Epub 2011 Sep 14. Neurology. 2011. PMID: 21917775 Free PMC article.
Molecular findings in symptomatic and pre-symptomatic Alexander disease patients.
Gorospe JR, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, Pedersen RC, Lewis D, Knowles P, Fernandez R, De Vivo D, van der Knaap MS, Messing A, Brenner M, Hoffman EP. Gorospe JR, et al. Among authors: fernandez r. Neurology. 2002 May 28;58(10):1494-500. doi: 10.1212/wnl.58.10.1494. Neurology. 2002. PMID: 12034785
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofz… See abstract for full author list ➔ Pelletier F, et al. Among authors: fernandez r. J Clin Endocrinol Metab. 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700. J Clin Endocrinol Metab. 2021. PMID: 33005949 Free PMC article.
DEI infrastructures required for the best science and medicine.
Tornini VA, Fernandez RW, Goldman OV, Suarez J. Tornini VA, et al. Among authors: fernandez rw. Lancet. 2024 Jun 1;403(10442):2375. doi: 10.1016/S0140-6736(24)00697-4. Lancet. 2024. PMID: 38823984 No abstract available.
Azole resistance screening in Aspergillus fumigatus sensu stricto using the azole-containing agar method (EUCAST E.Def 10.2): conidial suspension filtration and inoculum adjustment before inoculum preparation may not be needed.
Serrano-Lobo J, Reigadas E, Muñoz P, Escribano P, Guinea J; ASPEIN Study Group. Serrano-Lobo J, et al. J Clin Microbiol. 2024 May 31:e0036924. doi: 10.1128/jcm.00369-24. Online ahead of print. J Clin Microbiol. 2024. PMID: 38819167
Fish oil supplementation in obese rats ameliorates metabolic syndrome response.
Freitas DMB, Oliveira BAC, Henschel LDV, Oliveira MHAPC, Zazula M, Horlem E, Rodriguez DFS, Carvalhal SRS, Iagher F, Fernandez R, Naliwaiko K, Fernandes LC. Freitas DMB, et al. Among authors: fernandez r. Braz J Med Biol Res. 2024 May 20;57:e13172. doi: 10.1590/1414-431X2024e13172. eCollection 2024. Braz J Med Biol Res. 2024. PMID: 38808884 Free PMC article.
Cost of controlling the dengue vector Aedes aegypti in the Peruvian amazon.
Durand S, Paredes A, Pacheco C, Fernandez R, Herrera J, Cabezas C. Durand S, et al. Among authors: fernandez r. Rev Peru Med Exp Salud Publica. 2024 May 27;41(1):46-53. doi: 10.17843/rpmesp.2024.411.12905. Rev Peru Med Exp Salud Publica. 2024. PMID: 38808844 English, Spanish.
Management of race, ethnicity, and language data in the pediatric emergency department.
Gutman CK, Hartford EA, Gifford S, Ford V, Bouvay K, Pickett ML, Tran TT, Molyneaux Slade ND, Piroutek MJ, Chung S, Roach B, Hincapie M, Hoffmann JA, Lin K, Kotler H, Pulcini C, Rose JA, Bergmann KR, Cheng T, St Pierre Hetz R, Yan X, Lou XY, Fernandez R, Aronson PL, Lion KC; Pediatric Emergency Medicine Collaborative Research Committee Febrile Infants and Health Disparities Study Group. Gutman CK, et al. Among authors: fernandez r. Acad Emerg Med. 2024 May 29. doi: 10.1111/acem.14947. Online ahead of print. Acad Emerg Med. 2024. PMID: 38808384 No abstract available.
2,663 results