These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
193 related articles for article (PubMed ID: 26204956)
1. Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description. Battini R; Bertelloni S; Astrea G; Casarano M; Travaglini L; Baroncelli G; Pasquariello R; Bertini E; Cioni G BMC Med Genet; 2015 Jul; 16():53. PubMed ID: 26204956 [TBL] [Abstract][Full Text] [Related]
2. Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings. Khalifa M; Naffaa L Eur J Med Genet; 2015 Aug; 58(8):381-6. PubMed ID: 26096995 [TBL] [Abstract][Full Text] [Related]
3. More than hypomyelination in Pol-III disorder. Vanderver A; Tonduti D; Bernard G; Lai J; Rossi C; Carosso G; Quezado M; Wong K; Schiffmann R J Neuropathol Exp Neurol; 2013 Jan; 72(1):67-75. PubMed ID: 23242285 [TBL] [Abstract][Full Text] [Related]
4. A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report. Tewari VV; Mehta R; Sreedhar CM; Tewari K; Mohammad A; Gupta N; Gulati S; Kabra M BMC Pediatr; 2018 Apr; 18(1):126. PubMed ID: 29618326 [TBL] [Abstract][Full Text] [Related]
5. An Indian boy with a novel leukodystrophy: 4H syndrome. Jauhari P; Sahu JK; Singhi P; Dayal D; Khandelwal N J Child Neurol; 2014 Jan; 29(1):135-8. PubMed ID: 23307887 [TBL] [Abstract][Full Text] [Related]
6. Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism (4H) Syndrome With Vertebral Anomalies: A Novel Association. Muthusamy K; Sudhakar SV; Yoganathan S; Thomas MM; Alexander M J Child Neurol; 2015 Jun; 30(7):937-41. PubMed ID: 25213661 [TBL] [Abstract][Full Text] [Related]
7. Ataxia With Hypodontia: A Unique Leukodystrophy. Currie AD; Karmarkar SA Pediatr Neurol; 2018 Mar; 80():94-95. PubMed ID: 29429779 [No Abstract] [Full Text] [Related]
8. Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy. Potic A; Popovic V; Ostojic J; Pekic S; Kozic D; Guerrero K; Schiffmann R; Bernard G BMC Neurol; 2015 Mar; 15():22. PubMed ID: 25868523 [TBL] [Abstract][Full Text] [Related]
9. A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract. Sato I; Onuma A; Goto N; Sakai F; Fujiwara I; Uematsu M; Osaka H; Okahashi S; Nonaka I; Tanaka S; Haginoya K J Neurol Sci; 2011 Jan; 300(1-2):179-81. PubMed ID: 20884016 [TBL] [Abstract][Full Text] [Related]
10. [Central hypomyelination, hypogonadotrophic hypogonadism and hypodontia: a new leukodystrophy]. Vázquez-López M; Ruiz-Martín Y; de Castro-Castro P; Garzo-Fernández C; Martín-del Valle F; Márquez-de la Plata L Rev Neurol; 2008 Aug 16-31; 47(4):204-8. PubMed ID: 18671210 [TBL] [Abstract][Full Text] [Related]
11. New case of 4H syndrome and a review of the literature. Orcesi S; Tonduti D; Uggetti C; Larizza D; Fazzi E; Balottin U Pediatr Neurol; 2010 May; 42(5):359-64. PubMed ID: 20399393 [TBL] [Abstract][Full Text] [Related]
12. Case report: Neuropsychological assessment in a patient with 4H leukodystrophy. Haneda A; Hoots JK; Hagy HA; Lacy M Clin Neuropsychol; 2024 Jul; 38(5):1272-1289. PubMed ID: 37974060 [No Abstract] [Full Text] [Related]
13. Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III. Terao Y; Saitsu H; Segawa M; Kondo Y; Sakamoto K; Matsumoto N; Tsuji S; Nomura Y J Neurol Sci; 2012 Sep; 320(1-2):102-5. PubMed ID: 22819058 [TBL] [Abstract][Full Text] [Related]
14. Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth. Synofzik M; Bernard G; Lindig T; Gburek-Augustat J Neurology; 2013 Nov; 81(19):e145. PubMed ID: 24190003 [TBL] [Abstract][Full Text] [Related]
15. Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations. Takanashi J; Osaka H; Saitsu H; Sasaki M; Mori H; Shibayama H; Tanaka M; Nomura Y; Terao Y; Inoue K; Matsumoto N; Barkovich AJ Brain Dev; 2014 Mar; 36(3):259-63. PubMed ID: 23643445 [TBL] [Abstract][Full Text] [Related]
16. Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. Daoud H; Tétreault M; Gibson W; Guerrero K; Cohen A; Gburek-Augustat J; Synofzik M; Brais B; Stevens CA; Sanchez-Carpintero R; Goizet C; Naidu S; Vanderver A; Bernard G J Med Genet; 2013 Mar; 50(3):194-7. PubMed ID: 23355746 [TBL] [Abstract][Full Text] [Related]
17. Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy. Michell-Robinson MA; Watt KEN; Grouza V; Macintosh J; Pinard M; Tuznik M; Chen X; Darbelli L; Wu CL; Perrier S; Chitsaz D; Uccelli NA; Liu H; Cox TC; Müller CW; Kennedy TE; Coulombe B; Rudko DA; Trainor PA; Bernard G Brain; 2023 Dec; 146(12):5070-5085. PubMed ID: 37635302 [TBL] [Abstract][Full Text] [Related]
18. 4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype. Verberne EA; Dalen Meurs L; Wolf NI; van Haelst MM Am J Med Genet A; 2020 Jul; 182(7):1776-1779. PubMed ID: 32319736 [TBL] [Abstract][Full Text] [Related]
19. De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy. Riedhammer KM; Stockler S; Ploski R; Wenzel M; Adis-Dutschmann B; Ahting U; Alhaddad B; Blaschek A; Haack TB; Kopajtich R; Lee J; Murcia Pienkowski V; Pollak A; Szymanska K; Tarailo-Graovac M; van der Lee R; van Karnebeek CD; Meitinger T; Krägeloh-Mann I; Vill K Brain; 2021 Mar; 144(2):411-419. PubMed ID: 33313762 [TBL] [Abstract][Full Text] [Related]