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Page 1
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.
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.
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
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.
Epinephrine Dosing Intervals Are Associated With Pediatric In-Hospital Cardiac Arrest Outcomes: A Multicenter Study.
Kienzle MF, Morgan RW, Reeder RW, Ahmed T, Berg RA, Bishop R, Bochkoris M, Carcillo JA, Carpenter TC, Cooper KK, Diddle JW, Federman M, Fernandez R, Franzon D, Frazier AH, Friess SH, Frizzola M, Graham K, Hall M, Horvat C, Huard LL, Maa T, Manga A, McQuillen PS, Meert KL, Mourani PM, Nadkarni VM, Naim MY, Pollack MM, Sapru A, Schneiter C, Sharron MP, Tabbutt S, Viteri S, Wolfe HA, Sutton RM. Kienzle MF, et al. Among authors: fernandez r. Crit Care Med. 2024 Jun 4. doi: 10.1097/CCM.0000000000006334. Online ahead of print. Crit Care Med. 2024. PMID: 38833560
Curbing the major and growing threats from invasive alien species is urgent and achievable.
Roy HE, Pauchard A, Stoett PJ, Renard Truong T, Meyerson LA, Bacher S, Galil BS, Hulme PE, Ikeda T, Kavileveettil S, McGeoch MA, Nuñez MA, Ordonez A, Rahlao SJ, Schwindt E, Seebens H, Sheppard AW, Vandvik V, Aleksanyan A, Ansong M, August T, Blanchard R, Brugnoli E, Bukombe JK, Bwalya B, Byun C, Camacho-Cervantes M, Cassey P, Castillo ML, Courchamp F, Dehnen-Schmutz K, Zenni RD, Egawa C, Essl F, Fayvush G, Fernandez RD, Fernandez M, Foxcroft LC, Genovesi P, Groom QJ, González AI, Helm A, Herrera I, Hiremath AJ, Howard PL, Hui C, Ikegami M, Keskin E, Koyama A, Ksenofontov S, Lenzner B, Lipinskaya T, Lockwood JL, Mangwa DC, Martinou AF, McDermott SM, Morales CL, Müllerová J, Mungi NA, Munishi LK, Ojaveer H, Pagad SN, Pallewatta NPKTS, Peacock LR, Per E, Pergl J, Preda C, Pyšek P, Rai RK, Ricciardi A, Richardson DM, Riley S, Rono BJ, Ryan-Colton E, Saeedi H, Shrestha BB, Simberloff D, Tawake A, Tricarico E, Vanderhoeven S, Vicente J, Vilà M, Wanzala W, Werenkraut V, Weyl OLF, Wilson JRU, Xavier RO, Ziller SR. Roy HE, et al. Among authors: fernandez rd. Nat Ecol Evol. 2024 Jun 3. doi: 10.1038/s41559-024-02412-w. Online ahead of print. Nat Ecol Evol. 2024. PMID: 38831016 Review.
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
2,665 results