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Volumn 68, Issue 11, 2016, Pages 1393-1397

A case of pol III-related leukodystrophy with homozygous mutation in POLR3A

Author keywords

Congenital cerebral hypomyelination; Hypogonadotropic hypogonadism; Pol III related leukodystrophy; POLR3A; Symptomatic epilepsy

Indexed keywords

FOLLITROPIN; IOFETAMINE I 123; LUTEINIZING HORMONE; RNA POLYMERASE II; TESTOSTERONE; DNA DIRECTED RNA POLYMERASE III; POLR3A PROTEIN, HUMAN;

EID: 85007453526     PISSN: 18816096     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (3)

References (7)
  • 1
    • 80052769310 scopus 로고    scopus 로고
    • Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy
    • Bernard G, Chouery E, Putorti ML, Tetreault M, Takanohashi A, et al: Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet 89: 415-423, 2011.
    • (2011) Am J Hum Genet , vol.89 , pp. 415-423
    • Bernard, G.1    Chouery, E.2    Putorti, M.L.3    Tetreault, M.4    Takanohashi, A.5
  • 2
    • 81155128530 scopus 로고    scopus 로고
    • 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, et al: Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet 89: 644-651, 2011.
    • (2011) Am J Hum Genet , vol.89 , pp. 644-651
    • Saitsu, H.1    Osaka, H.2    Sasaki, M.3    Takanashi, J.4    Hamada, K.5
  • 3
    • 80955151659 scopus 로고    scopus 로고
    • Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy
    • Tetreault M, Choquet K, Orcesi S, Tonduti D, Balottin U, et al: Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet 89: 652-655, 2011.
    • (2011) Am J Hum Genet , vol.89 , pp. 652-655
    • Tetreault, M.1    Choquet, K.2    Orcesi, S.3    Tonduti, D.4    Balottin, U.5
  • 4
    • 84893875255 scopus 로고    scopus 로고
    • Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations
    • Takanashi J, Osaka H, Saitsu H, Sasaki M, Mori H, et al: Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations. Brain Dev 36: 259-263, 2014.
    • (2014) Brain Dev , vol.36 , pp. 259-263
    • Takanashi, J.1    Osaka, H.2    Saitsu, H.3    Sasaki, M.4    Mori, H.5
  • 5
    • 84896110980 scopus 로고    scopus 로고
    • 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, et al: Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination. Brain Dev 36: 315-321, 2014.
    • (2014) Brain Dev , vol.36 , pp. 315-321
    • Shimojima, K.1    Shimada, S.2    Tamasaki, A.3    Akaboshi, S.4    Komoike, Y.5
  • 6
    • 84864580548 scopus 로고    scopus 로고
    • 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, et al: Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III. J Neurol Sci 320: 102-105, 2012.
    • (2012) J Neurol Sci , vol.320 , pp. 102-105
    • Terao, Y.1    Saitsu, H.2    Segawa, M.3    Kondo, Y.4    Sakamoto, K.5
  • 7
    • 84961290480 scopus 로고    scopus 로고
    • Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations
    • Wolf Nl, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, et al: Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology 83: 1898-1905, 2014.
    • (2014) Neurology , vol.83 , pp. 1898-1905
    • Wolf, N.1    Vanderver, A.2    Van Spaendonk, R.M.3    Schiffmann, R.4    Brais, B.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.