PMC Links for OMIM (Select 114220) - PMC

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Items: 3

Select item 48636651.

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Ziv Gan-Or, Naima Bouslam, Nazha Birouk, Alexandra Lissouba, Daniel B. Chambers, Julie Vérièpe, Alaura Androschuck, Sandra B. Laurent, Daniel Rochefort, Dan Spiegelman, Alexandre Dionne-Laporte, Anna Szuto, Meijiang Liao, Denise A. Figlewicz, Ahmed Bouhouche, Ali Benomar, Mohamed Yahyaoui, Reda Ouazzani, Grace Yoon, Nicolas Dupré, Oksana Suchowersky, Francois V. Bolduc, J. Alex Parker, Patrick A. Dion, Pierre Drapeau, Guy A. Rouleau, Bouchra Ouled Amar Bencheikh

Am J Hum Genet. 2016 May 5; 98(5): 1038–1046. Published online 2016 May 5. doi: 10.1016/j.ajhg.2016.04.002

Correction in:: Am J Hum Genet. 2016 Jun 2; 98(6): 1271.

PMCID:: PMC4863665

Abstract Article PDF–1.6M

Select item 36694082.

Missense Mutation in CAPN1 Is Associated with Spinocerebellar Ataxia in the Parson Russell Terrier Dog Breed

Oliver P. Forman, Luisa De Risio, Cathryn S. Mellersh

PLoS One. 2013; 8(5): e64627. Published online 2013 May 31. doi: 10.1371/journal.pone.0064627

PMCID:: PMC3669408

Abstract Article PDF–1.3M

Select item 33915393.

Apicomplexan Parasites Co-Opt Host Calpains to Facilitate Their Escape from Infected Cells

Rajesh Chandramohanadas, Paul H. Davis, Daniel P. Beiting, Michael B. Harbut, Claire Darling, Geetha Velmourougane, Ming Yeh Lee, Peter A. Greer, David S. Roos, Doron C. Greenbaum

Science. Author manuscript; available in PMC 2012 Jul 8.

Published in final edited form as: Science. 2009 May 8; 324(5928): 794–797. Published online 2009 Apr 2. doi: 10.1126/science.1171085