Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 95

1.

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. doi: 10.1136/jmedgenet-2012-101357. Epub 2013 Jan 25.

PMID:
23355746
[PubMed - indexed for MEDLINE]
2.

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 11;89(5):644-51. doi: 10.1016/j.ajhg.2011.10.003. Epub 2011 Oct 27.

PMID:
22036171
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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 11;89(5):652-5. doi: 10.1016/j.ajhg.2011.10.006. Epub 2011 Oct 27.

PMID:
22036172
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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 9;89(3):415-23. doi: 10.1016/j.ajhg.2011.07.014. Erratum in: Am J Hum Genet. 2012 Nov 2;91(5):972.

PMID:
21855841
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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. doi: 10.1016/j.braindev.2013.03.006. Epub 2013 May 3.

PMID:
23643445
[PubMed - in process]
6.

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. doi: 10.1016/j.braindev.2013.04.011. Epub 2013 May 18.

PMID:
23694757
[PubMed - in process]
7.

Pol III-Related Leukodystrophies.

Bernard G, Vanderver A.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2012 Aug 02.

PMID:
22855961
[PubMed]
Books & Documents
8.

Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies.

La Piana R, Tonduti D, Gordish Dressman H, Schmidt JL, Murnick J, Brais B, Bernard G, Vanderver A.

J Child Neurol. 2014 Feb;29(2):214-20. doi: 10.1177/0883073813503902. Epub 2013 Oct 7.

PMID:
24105487
[PubMed - in process]
9.

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 5;81(19):e145. doi: 10.1212/01.wnl.0000435300.64776.7e.

PMID:
24190003
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations.

Potic A, Brais B, Choquet K, Schiffmann R, Bernard G.

Arch Neurol. 2012 Jul;69(7):920-3.

PMID:
22451160
[PubMed - indexed for MEDLINE]
11.

[A case of hypomyelinating leukodystrophy with new homozygous mutation in POLR3A].

Tamura A, Niwa A, Ii Y, Sasaki R, Tomimoto H, Saitsu H.

Rinsho Shinkeigaku. 2013;53(8):624-9. Japanese.

PMID:
23965854
[PubMed - indexed for MEDLINE]
12.

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.

Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, Heno B, Gershoni-Baruch R, Skorecki K, Mandel H.

Am J Hum Genet. 2008 Jul;83(1):30-42. doi: 10.1016/j.ajhg.2008.05.016. Epub 2008 Jun 19.

PMID:
18571143
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Molecular defects of the GnRH-receptor gene in Chinese patients with idiopathic hypogonadotropic hypogonadism and the severity of hypogonadism.

Fathi AK, Hu S, Fu X, Huang S, Liang Y, Ning Q, Luo X.

J Pediatr Endocrinol Metab. 2012;25(7-8):659-68.

PMID:
23155690
[PubMed - indexed for MEDLINE]
14.

Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.

Ilja Boor PK, de Groot K, Mejaski-Bosnjak V, Brenner C, van der Knaap MS, Scheper GC, Pronk JC.

Hum Mutat. 2006 Jun;27(6):505-12.

PMID:
16652334
[PubMed - indexed for MEDLINE]
15.

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. doi: 10.1097/NEN.0b013e31827c99d2.

PMID:
23242285
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, Bick DP, Sherins RJ, Walker SL, Shi Y, Gusella JF, Layman LC.

Am J Hum Genet. 2008 Oct;83(4):511-9. doi: 10.1016/j.ajhg.2008.09.005. Epub 2008 Oct 2.

PMID:
18834967
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ.

Acta Neurol Scand Suppl. 2012;(193):iv-22. doi: 10.1111/ane.12013.

PMID:
23106488
[PubMed - indexed for MEDLINE]
18.

Hypothalamic dysfunction in a female with isolated hypogonadotropic hypogonadism and compound heterozygous TACR3 mutations and clinical manifestation in her heterozygous mother.

Fukami M, Maruyama T, Dateki S, Sato N, Yoshimura Y, Ogata T.

Horm Res Paediatr. 2010;73(6):477-81. doi: 10.1159/000313373. Epub 2010 Apr 15.

PMID:
20395662
[PubMed - indexed for MEDLINE]
19.

Novel mutations of the MLC1 gene in Turkish patients.

Yüzbaşioğlu A, Topçu M, Cetin Kocaefe Y, Ozgüç M.

Eur J Med Genet. 2011 May-Jun;54(3):281-3. doi: 10.1016/j.ejmg.2010.11.014. Epub 2010 Dec 9.

PMID:
21145992
[PubMed - indexed for MEDLINE]
20.

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

Guerreiro R, Kara E, Le Ber I, Bras J, Rohrer JD, Taipa R, Lashley T, Dupuits C, Gurunlian N, Mochel F, Warren JD, Hannequin D, Sedel F, Depienne C, Camuzat A, Golfier V, Du Boisguéheneuc F, Schottlaender L, Fox NC, Beck J, Mead S, Rossor MN, Hardy J, Revesz T, Brice A, Houlden H.

JAMA Neurol. 2013 Jul;70(7):875-82. doi: 10.1001/jamaneurol.2013.698.

PMID:
23649896
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk