PMC Links for Nucleotide (Select 194294503) - PMC

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Items: 6

Select item 44759271.

Regulated Intron Retention and Nuclear Pre-mRNA Decay Contribute to PABPN1 Autoregulation

Danny Bergeron, Gheorghe Pal, Yves B. Beaulieu, Benoit Chabot, François Bachand

Mol Cell Biol. 2015 Jul; 35(14): 2503–2517. Prepublished online 2015 May 11. Published online 2015 Jun 19. doi: 10.1128/MCB.00070-15

PMCID:: PMC4475927

Abstract Article PDF–2.8M

Select item 13699102.

Deciphering the cellular pathway for transport of poly(A)-binding protein II.

A Calado, U Kutay, U Kühn, E Wahle, M Carmo-Fonseca

RNA. 2000 Feb; 6(2): 245–256. doi: 10.1017/s1355838200991908

PMCID:: PMC1369910

Summary PDF–817K

Select item 64605723.

Diagnostics of short tandem repeat expansion variants using massively parallel sequencing and componential tools

Rick H. de Leeuw, Dominique Garnier, Rosemarie M. J. M. Kroon, Corinne G. C. Horlings, Emile de Meijer, Henk Buermans, Baziel G. M. van Engelen, Peter de Knijff, Vered Raz

Eur J Hum Genet. 2019 Mar; 27(3): 400–407. Published online 2018 Nov 19. doi: 10.1038/s41431-018-0302-4

PMCID:: PMC6460572

Abstract Article PDF–912K

Select item 61050504.

Valproic acid is protective in cellular and worm models of oculopharyngeal muscular dystrophy

Aida Abu-Baker, Alex Parker, Siriram Ramalingam, Janet Laganiere, Bernard Brais, Christian Neri, Patrick Dion, Guy Rouleau

Neurology. 2018 Aug 7; 91(6): e551–e561. doi: 10.1212/WNL.0000000000005942

PMCID:: PMC6105050

Abstract Article PDF–1.4M

Select item 52729665.

Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy

Pascale Richard, Capucine Trollet, Tanya Stojkovic, Alix de Becdelievre, Sophie Perie, Jean Pouget, Bruno Eymard, For the Neurologists of French Neuromuscular Reference Centers CORNEMUS and FILNEMUS

Neurology. 2017 Jan 24; 88(4): 359–365. doi: 10.1212/WNL.0000000000003554

PMCID:: PMC5272966

Abstract Article PDF–386K

Select item 52714606.

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy –Consequences in Clinical Diagnosis and Genetic Counselling

Pascale Richard, Capucine Trollet, Teresa Gidaro, Laurence Demay, Guy Brochier, Edoardo Malfatti, Fernando MS Tom, Michel Fardeau, Pascal Lafor, Norma Romero, Marie-Laure Martin-N, Guilhem Sol, Xavier Ferrer-Monasterio, Jean Lacau Saint-Guily, Bruno Eymard

J Neuromuscul Dis. 2015 Jun 4; 2(2): 175–180. doi: 10.3233/JND-140060