Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 39

PubMed Links for Books (Select 2963930)

1.

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
2.

TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1.

Tétreault M, Putorti ML, Thiffault I, Sylvain M, Venderver A, Schiffmann R, Brais B, Bernard G.

Can J Neurol Sci. 2012 Jan;39(1):122-3. No abstract available.

PMID:
22384513
3.

Abnormal myelination in ring chromosome 18 syndrome.

Benini R, Saint-Martin C, Shevell MI, Bernard G.

J Child Neurol. 2012 Aug;27(8):1042-7. doi: 10.1177/0883073811430268. Epub 2012 Jan 30.

PMID:
22290857
4.

Novel hypomyelinating leukoencephalopathy affecting early myelinating structures.

Steenweg ME, Wolf NI, Schieving JH, Fawzi Elsaid M, Friederich RL, Ostergaard JR, Barkhof F, Pouwels PJ, van der Knaap MS.

Arch Neurol. 2012 Jan;69(1):125-8. doi: 10.1001/archneurol.2011.1030.

PMID:
22232354
5.

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.

6.

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.

7.

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.

8.

Rare dental peculiarities associated with the hypomyelinating leukoencephalopathy 4H syndrome/ADDH.

Wolff A, Koch MJ, Benzinger S, van Waes H, Wolf NI, Boltshauser E, Luder HU.

Pediatr Dent. 2010 Sep-Oct;32(5):386-92.

PMID:
21070704
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 15;300(1-2):179-81. doi: 10.1016/j.jns.2010.09.009. Epub 2010 Sep 29.

PMID:
20884016
10.

Magnetic resonance imaging pattern recognition in hypomyelinating disorders.

Steenweg ME, Vanderver A, Blaser S, Bizzi A, de Koning TJ, Mancini GM, van Wieringen WN, Barkhof F, Wolf NI, van der Knaap MS.

Brain. 2010 Oct;133(10):2971-82. doi: 10.1093/brain/awq257. Erratum in: Brain. 2013 Sep;136(Pt 9):2923.

11.

A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.

Chouery E, Delague V, Jalkh N, Salem N, Kfoury J, Rodriguez D, Chabrol B, Boespflug-Tanguy O, Lévy N, Serre JL, Mégarbané A.

Neurogenetics. 2011 Feb;12(1):73-8. doi: 10.1007/s10048-010-0256-3. Epub 2010 Aug 19.

PMID:
20721593
12.

Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.

Bernard G, Thiffault I, Tetreault M, Putorti ML, Bouchard I, Sylvain M, Melançon S, Laframboise R, Langevin P, Bouchard JP, Vanasse M, Vanderver A, Sébire G, Brais B.

Neurogenetics. 2010 Oct;11(4):457-64. doi: 10.1007/s10048-010-0251-8. Epub 2010 Jul 17.

13.

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. doi: 10.1016/j.pediatrneurol.2010.01.015. Review.

PMID:
20399393
14.

Structure-function analysis of RNA polymerases I and III.

Werner M, Thuriaux P, Soutourina J.

Curr Opin Struct Biol. 2009 Dec;19(6):740-5. doi: 10.1016/j.sbi.2009.10.005. Epub 2009 Nov 4. Review.

PMID:
19896367
15.

Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.

Bekiesinska-Figatowska M, Mierzewska H, Kuczynska-Zardzewialy A, Szczepanik E, Obersztyn E.

Brain Dev. 2010 Aug;32(7):574-8. doi: 10.1016/j.braindev.2009.07.008. Epub 2009 Aug 22.

PMID:
19700253
16.

Invited article: an MRI-based approach to the diagnosis of white matter disorders.

Schiffmann R, van der Knaap MS.

Neurology. 2009 Feb 24;72(8):750-9. doi: 10.1212/01.wnl.0000343049.00540.c8.

17.

Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum.

Sasaki M, Takanashi J, Tada H, Sakuma H, Furushima W, Sato N.

Brain Dev. 2009 Sep;31(8):582-7. doi: 10.1016/j.braindev.2008.09.003. Epub 2008 Oct 11.

PMID:
18851904
18.

[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. Spanish.

PMID:
18671210
19.

Structure of eukaryotic RNA polymerases.

Cramer P, Armache KJ, Baumli S, Benkert S, Brueckner F, Buchen C, Damsma GE, Dengl S, Geiger SR, Jasiak AJ, Jawhari A, Jennebach S, Kamenski T, Kettenberger H, Kuhn CD, Lehmann E, Leike K, Sydow JF, Vannini A.

Annu Rev Biophys. 2008;37:337-52. doi: 10.1146/annurev.biophys.37.032807.130008. Review.

PMID:
18573085
20.

The expanding RNA polymerase III transcriptome.

Dieci G, Fiorino G, Castelnuovo M, Teichmann M, Pagano A.

Trends Genet. 2007 Dec;23(12):614-22. Epub 2007 Oct 30. Review.

PMID:
17977614
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk