Tanackovic G, Ransijn A, Thibault P, Abou Elela S, Klinck R, Berson EL, Chabot B, Rivolta C.
Hum Mol Genet. 2011 20(11):2116-30
PMID:21378395
PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa
dgm-pubs
Thursday, May 12, 2011
Monday, September 13, 2010
Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa
Langmann T, Di Gioia SA, Rau I, Stöhr H, Maksimovic NS, Corbo JC, Renner AB, Zrenner E, Kumaramanickavel G, Karlstetter M, Arsenijevic Y, Weber BH, Gal A, Rivolta C.
Am J Hum Genet. 2010 Sep 10;87(3):376-81. Epub 2010 Aug 12.PMID: 20705278
Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa
Am J Hum Genet. 2010 Sep 10;87(3):376-81. Epub 2010 Aug 12.PMID: 20705278
Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa
Friday, August 13, 2010
A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance
Rio Frio T, McGee TL, Wade NM, Iseli C, Beckmann JS, Berson EL, Rivolta C.
Hum Mutat. 2009 Sep;30(9):1340-7.PMID: 19618371
A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance.
Hum Mutat. 2009 Sep;30(9):1340-7.PMID: 19618371
A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance.
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system
Arnaud E, Zenker J, de Preux Charles AS, Stendel C, Roos A, Médard JJ, Tricaud N, Weis J, Suter U, Senderek J, Chrast R.
Proc Natl Acad Sci U S A. 2009 Oct 13;106(41):17528-33. Epub 2009 Sep 29.PMID: 19805030 [PubMed - indexed for MEDLINE]
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.
Proc Natl Acad Sci U S A. 2009 Oct 13;106(41):17528-33. Epub 2009 Sep 29.PMID: 19805030 [PubMed - indexed for MEDLINE]
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.
Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A
Cartoni R, Arnaud E, Médard JJ, Poirot O, Courvoisier DS, Chrast R, Martinou JC.
Brain. 2010 May;133(Pt 5):1460-9.PMID: 20418531
http://www.ncbi.nlm.nih.gov/pubmed/20418531
Brain. 2010 May;133(Pt 5):1460-9.PMID: 20418531
http://www.ncbi.nlm.nih.gov/pubmed/20418531
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