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Results: 1 to 20 of 28

Cited In for PubMed (Select 15627202)


Progesterone antagonist therapy in a Pelizaeus-Merzbacher mouse model.

Prukop T, Epplen DB, Nientiedt T, Wichert SP, Fledrich R, Stassart RM, Rossner MJ, Edgar JM, Werner HB, Nave KA, Sereda MW.

Am J Hum Genet. 2014 Apr 3;94(4):533-46. doi: 10.1016/j.ajhg.2014.03.001. Epub 2014 Mar 27.


Regulation of Myelination in the Central Nervous System by Nuclear Lamin B1 and Non-coding RNAs.

Lin ST, Heng MY, Ptáček LJ, Fu YH.

Transl Neurodegener. 2014 Feb 5;3(1):4. doi: 10.1186/2047-9158-3-4.


Human diseases associated with form and function of the Golgi complex.

Bexiga MG, Simpson JC.

Int J Mol Sci. 2013 Sep 10;14(9):18670-81. doi: 10.3390/ijms140918670. Review.


Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation.

Regis S, Corsolini F, Grossi S, Tappino B, Cooper DN, Filocamo M.

PLoS One. 2013 Sep 3;8(9):e73633. doi: 10.1371/journal.pone.0073633. eCollection 2013.


Depletion of molecular chaperones from the endoplasmic reticulum and fragmentation of the Golgi apparatus associated with pathogenesis in Pelizaeus-Merzbacher disease.

Numata Y, Morimura T, Nakamura S, Hirano E, Kure S, Goto YI, Inoue K.

J Biol Chem. 2013 Mar 15;288(11):7451-66. doi: 10.1074/jbc.M112.435388. Epub 2013 Jan 23.


Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease: metabolic abnormalities as diagnostic tools.

Lee E, Yum MS, Choi HW, Yoo HW, You SJ, Lee EH, Ko TS.

Korean J Pediatr. 2012 Oct;55(10):397-402. doi: 10.3345/kjp.2012.55.10.397. Epub 2012 Oct 29.


Maternal separation with early weaning: a rodent model providing novel insights into neglect associated developmental deficits.

Carlyle BC, Duque A, Kitchen RR, Bordner KA, Coman D, Doolittle E, Papademetris X, Hyder F, Taylor JR, Simen AA.

Dev Psychopathol. 2012 Nov;24(4):1401-16. doi: 10.1017/S095457941200079X.


MicroRNA expression in mouse oligodendrocytes and regulation of proteolipid protein gene expression.

Wang E, Cambi F.

J Neurosci Res. 2012 Sep;90(9):1701-12. doi: 10.1002/jnr.23055. Epub 2012 Apr 14.


Gap junctions in inherited human disorders of the central nervous system.

Abrams CK, Scherer SS.

Biochim Biophys Acta. 2012 Aug;1818(8):2030-47. doi: 10.1016/j.bbamem.2011.08.015. Epub 2011 Aug 16. Review.


Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.

Grossi S, Regis S, Biancheri R, Mort M, Lualdi S, Bertini E, Uziel G, Boespflug-Tanguy O, Simonati A, Corsolini F, Demir E, Marchiani V, Percesepe A, Stanzial F, Rossi A, Vaurs-Barrière C, Cooper DN, Filocamo M.

Orphanet J Rare Dis. 2011 Jun 16;6:40. doi: 10.1186/1750-1172-6-40.


Functional genomic and proteomic analysis reveals disruption of myelin-related genes and translation in a mouse model of early life neglect.

Bordner KA, George ED, Carlyle BC, Duque A, Kitchen RR, Lam TT, Colangelo CM, Stone KL, Abbott TB, Mane SM, Nairn AC, Simen AA.

Front Psychiatry. 2011 Apr 25;2:18. doi: 10.3389/fpsyt.2011.00018. eCollection 2011.


Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.

Carvalho CM, Bartnik M, Pehlivan D, Fang P, Shen J, Lupski JR.

Clin Genet. 2012 Jun;81(6):532-41. doi: 10.1111/j.1399-0004.2011.01716.x. Epub 2011 Jun 20.


Using temporal genetic switches to synchronize the unfolded protein response in cell populations in vivo.

Gow A.

Methods Enzymol. 2011;491:143-61. doi: 10.1016/B978-0-12-385928-0.00009-2.


Adult-onset autosomal dominant leukodystrophy: linking nuclear envelope to myelin.

Lin ST, Ptácek LJ, Fu YH.

J Neurosci. 2011 Jan 26;31(4):1163-6. doi: 10.1523/JNEUROSCI.5994-10.2011. Review. No abstract available.


Defective adult oligodendrocyte and Schwann cell development, pigment pattern, and craniofacial morphology in puma mutant zebrafish having an alpha tubulin mutation.

Larson TA, Gordon TN, Lau HE, Parichy DM.

Dev Biol. 2010 Oct 15;346(2):296-309. doi: 10.1016/j.ydbio.2010.07.035. Epub 2010 Aug 5.


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.


CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.

Hackett A, Tarpey PS, Licata A, Cox J, Whibley A, Boyle J, Rogers C, Grigg J, Partington M, Stevenson RE, Tolmie J, Yates JR, Turner G, Wilson M, Futreal AP, Corbett M, Shaw M, Gecz J, Raymond FL, Stratton MR, Schwartz CE, Abidi FE.

Eur J Hum Genet. 2010 May;18(5):544-52. doi: 10.1038/ejhg.2009.220. Epub 2009 Dec 23. Erratum in: Eur J Hum Genet. 2010 May;18(5):552.


Genomic and Proteomic Biomarker Discovery in Neurological Disease.

Robeson RH, Siegel AM, Dunckley T.

Biomark Insights. 2008 Feb 9;3:73-86.

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