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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: brozova k. 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.
Natural History of Vanishing White Matter.
Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI; VWM Research Group; van der Knaap MS. Hamilton EMC, et al. Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6. Ann Neurol. 2018. PMID: 30014503 Free PMC article.
POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene.
Kulhánek J, Brožová K, Hansíková H, Vondráčková A, Stránecký V, Šenkyřík J, Kmoch S, Zeman J, Honzík T, Tesařová M. Kulhánek J, et al. Among authors: brozova k. Neurol Neurochir Pol. 2019;53(5):369-376. doi: 10.5603/PJNNS.a2019.0042. Epub 2019 Oct 2. Neurol Neurochir Pol. 2019. PMID: 31577365
An immunotherapy effect analysis in Rasmussen encephalitis.
Liba Z, Vaskova M, Zamecnik J, Kayserova J, Nohejlova H, Ebel M, Sanda J, Ramos-Rivera GA, Brozova K, Liby P, Tichy M, Krsek P. Liba Z, et al. Among authors: brozova k. BMC Neurol. 2020 Sep 24;20(1):359. doi: 10.1186/s12883-020-01932-9. BMC Neurol. 2020. PMID: 32972372 Free PMC article.
Letter to the editor: hypoglycemia and treatment with opioids.
Brož J, Brožová K, Malinovská J. Brož J, et al. Among authors: brozova k. Expert Opin Drug Saf. 2019 Dec;18(12):1263. doi: 10.1080/14740338.2019.1673363. Epub 2019 Sep 30. Expert Opin Drug Saf. 2019. PMID: 31556328 No abstract available.
Vagus nerve stimulation: longitudinal follow-up of patients treated for 5 years.
Kuba R, Brázdil M, Kalina M, Procházka T, Hovorka J, Nezádal T, Hadac J, Brozová K, Sebronová V, Komárek V, Marusic P, Oslejsková H, Zárubová J, Rektor I. Kuba R, et al. Among authors: brozova k. Seizure. 2009 May;18(4):269-74. doi: 10.1016/j.seizure.2008.10.012. Epub 2008 Dec 9. Seizure. 2009. PMID: 19081273 Free article.
33 results