126 related articles for article (PubMed ID: 35434302)
21. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Thiffault I; Wolf NI; Forget D; Guerrero K; Tran LT; Choquet K; Lavallée-Adam M; Poitras C; Brais B; Yoon G; Sztriha L; Webster RI; Timmann D; van de Warrenburg BP; Seeger J; Zimmermann A; Máté A; Goizet C; Fung E; van der Knaap MS; Fribourg S; Vanderver A; Simons C; Taft RJ; Yates JR; Coulombe B; Bernard G
Nat Commun; 2015 Jul; 6():7623. PubMed ID: 26151409
[TBL] [Abstract][Full Text] [Related]
22. Mutation in
Dorboz I; Dumay-Odelot H; Boussaid K; Bouyacoub Y; Barreau P; Samaan S; Jmel H; Eymard-Pierre E; Cances C; Bar C; Poulat AL; Rousselle C; Renaldo F; Elmaleh-Bergès M; Teichmann M; Boespflug-Tanguy O
Neurol Genet; 2018 Dec; 4(6):e289. PubMed ID: 30584594
[TBL] [Abstract][Full Text] [Related]
23. Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.
Saitsu H; Osaka H; Sasaki M; Takanashi J; Hamada K; Yamashita A; Shibayama H; Shiina M; Kondo Y; Nishiyama K; Tsurusaki Y; Miyake N; Doi H; Ogata K; Inoue K; Matsumoto N
Am J Hum Genet; 2011 Nov; 89(5):644-51. PubMed ID: 22036171
[TBL] [Abstract][Full Text] [Related]
24. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.
Tétreault M; Choquet K; Orcesi S; Tonduti D; Balottin U; Teichmann M; Fribourg S; Schiffmann R; Brais B; Vanderver A; Bernard G
Am J Hum Genet; 2011 Nov; 89(5):652-5. PubMed ID: 22036172
[TBL] [Abstract][Full Text] [Related]
25. Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts.
Jurkiewicz E; Dunin-Wąsowicz D; Gieruszczak-Białek D; Malczyk K; Guerrero K; Gutierrez M; Tran L; Bernard G
Clin Neuroradiol; 2017 Jun; 27(2):213-220. PubMed ID: 26478204
[TBL] [Abstract][Full Text] [Related]
26. Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.
Kraoua I; Karkar A; Drissi C; Benrhouma H; Klaa H; Samaan S; Renaldo F; Elmaleh M; Ben Hamouda M; Abdelhak S; Boespflug-Tanguy O; Ben Youssef-Turki I; Dorboz I
Mol Genet Genomic Med; 2019 Sep; 7(9):e914. PubMed ID: 31368241
[TBL] [Abstract][Full Text] [Related]
27. Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.
Gutierrez M; Thiffault I; Guerrero K; Martos-Moreno GÁ; Tran LT; Benko W; van der Knaap MS; van Spaendonk RM; Wolf NI; Bernard G
Orphanet J Rare Dis; 2015 Jun; 10():69. PubMed ID: 26045207
[TBL] [Abstract][Full Text] [Related]
28. Uncertain significance mutation in the POLR3B gene in a Syrian boy with leukodystrophy: a case report.
Hamdan Z; Alasmar D
Ann Med Surg (Lond); 2023 Aug; 85(8):4126-4130. PubMed ID: 37554900
[TBL] [Abstract][Full Text] [Related]
29. 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
Neurol Neurochir Pol; 2019; 53(5):369-376. PubMed ID: 31577365
[TBL] [Abstract][Full Text] [Related]
30. Biallelic pathogenic variants in
Macintosh J; Perrier S; Pinard M; Tran LT; Guerrero K; Prasad C; Prasad AN; Pastinen T; Thiffault I; Coulombe B; Bernard G
Front Neurol; 2023; 14():1254140. PubMed ID: 37915380
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. 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]
33. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
Bernard G; Chouery E; Putorti ML; Tétreault M; Takanohashi A; Carosso G; Clément I; Boespflug-Tanguy O; Rodriguez D; Delague V; Abou Ghoch J; Jalkh N; Dorboz I; Fribourg S; Teichmann M; Megarbane A; Schiffmann R; Vanderver A; Brais B
Am J Hum Genet; 2011 Sep; 89(3):415-23. PubMed ID: 21855841
[TBL] [Abstract][Full Text] [Related]
34. Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.
Ghoumid J; Petit F; Boute-Benejean O; Frenois F; Cartigny M; Vanlerberghe C; Smol T; Caumes R; de Roux N; Manouvrier-Hanu S
Eur J Hum Genet; 2017 Aug; 25(8):1011-1014. PubMed ID: 28589944
[TBL] [Abstract][Full Text] [Related]
35. A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report.
Xue YY; Cheng HL; Dong HL; Yin HM; Yuan Y; Meng LC; Wu ZY; Yu H
BMC Neurol; 2021 Oct; 21(1):402. PubMed ID: 34666706
[TBL] [Abstract][Full Text] [Related]
36. POLR3-related Leukodystrophy.
Thomas A; Thomas AK
J Clin Imaging Sci; 2019; 9():45. PubMed ID: 31768296
[TBL] [Abstract][Full Text] [Related]
37. Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination.
Shimojima K; Shimada S; Tamasaki A; Akaboshi S; Komoike Y; Saito A; Furukawa T; Yamamoto T
Brain Dev; 2014 Apr; 36(4):315-21. PubMed ID: 23694757
[TBL] [Abstract][Full Text] [Related]
38. POLR3A variants in striatal involvement without diffuse hypomyelination.
Hiraide T; Kubota K; Kono Y; Watanabe S; Matsubayashi T; Nakashima M; Kaname T; Fukao T; Shimozawa N; Ogata T; Saitsu H
Brain Dev; 2020 Apr; 42(4):363-368. PubMed ID: 31932101
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. Hypomyelinating Leukodystrophy 8 (HLD8)-Associated Mutation of POLR3B Leads to Defective Oligodendroglial Morphological Differentiation Whose Effect Is Reversed by Ibuprofen.
Sawaguchi S; Suzuki R; Oizumi H; Ohbuchi K; Mizoguchi K; Yamamoto M; Miyamoto Y; Yamauchi J
Neurol Int; 2022 Feb; 14(1):212-244. PubMed ID: 35225888
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
