Publikace k tématu:
1.: 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, Synofzik M, Sztriha L, Tibussek D, Timmann D,
Tonduti D, van de Warrenburg BP, Vázquez-López M, Venkateswaran S, Wasling P,
Wassmer E, Webster RI, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der
Knaap MS, Vanderver A, Martos-Moreno GÁ, Polychronakos C, Wolf NI, Bernard G.
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in
POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab. 2021 Jan
23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700. PMID: 33005949; PMCID:
PMC7823228.
2: Kulhánek J, Brožová K, Hansíková H, Vondráčková A, Stránecký V, Šenkyřík J,
Kmoch S, Zeman J, Honzík T, Tesařová M. POLR3B-associated leukodystrophy:
clinical, neuroimaging and molecular-genetic analyses in four patients: clinical
heterogeneity and novel mutations in POLR3B gene. Neurol Neurochir Pol.
2019;53(5):369-376. doi: 10.5603/PJNNS.a2019.0042. Epub 2019 Oct 2. PMID:
31577365.
3: Brožová K, Krásničanová H, Rusina R. Megalencephalic leukoencephalopathy with
subcortical cysts without macrocephaly: A case study of comorbid Turner’s
syndrome. Clin Neurol Neurosurg. 2019 Sep;184:105400. doi:
10.1016/j.clineuro.2019.105400. Epub 2019 Jul 4. PMID: 31302377.
4: 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. Natural History of Vanishing White Matter. Ann
Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6. PMID:
30014503; PMCID: PMC6175238.
5: 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. Clinical spectrum of 4H
leukodystrophy caused by POLR3A and POLR3B mutations. Neurology. 2014 Nov
18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. PMID:
25339210; PMCID: PMC4248461.