Jordi Perez-Tur, Ph.D.

Affiliations: 
Molecular Genetics Instituto de Biomedicina de Valencia, València, Comunidad Valenciana, Spain 
Website:
http://ugm.ibv.csic.es/pers/jpt.html
Google:
"Jordi Perez-Tur"
Bio:

PhD, Universidad Autónoma de Madrid
http://ugm.ibv.csic.es/
http://www.ciberned.es/en/grupo-perez-tur.html
http://www.mendeley.com/profiles/jordi-perez-tur/

Cross-listing: Neurotree - Chemistry Tree

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Publications

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Dols-Icardo O, Nebot I, Gorostidi A, et al. (2015) Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain. Brain : a Journal of Neurology
Hu L, Diez-Fernandez C, Rüfenacht V, et al. (2014) Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression. Molecular Genetics and Metabolism. 113: 267-73
Cardona F, Tormos-Pérez M, Pérez-Tur J. (2014) Structural and functional in silico analysis of LRRK2 missense substitutions. Molecular Biology Reports. 41: 2529-42
Ruiz A, Dols-Icardo O, Bullido MJ, et al. (2014) Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia. Neurobiology of Aging. 35: 444.e1-4
Rubio-Moscardo F, Setó-Salvia N, Pera M, et al. (2013) Rare variants in calcium homeostasis modulator 1 (CALHM1) found in early onset Alzheimer's disease patients alter calcium homeostasis. Plos One. 8: e74203
Sempere AP, Aparicio S, Mola S, et al. (2013) Benign hereditary chorea: clinical features and long-term follow-up in a Spanish family. Parkinsonism & Related Disorders. 19: 394-6
García-Redondo A, Dols-Icardo O, Rojas-García R, et al. (2013) Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide. Human Mutation. 34: 79-82
Lorenzo-Betancor O, Samaranch L, Ezquerra M, et al. (2012) LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation. Movement Disorders : Official Journal of the Movement Disorder Society. 27: 146-51
Cardona F, Sánchez-Mut JV, Dopazo H, et al. (2011) Phylogenetic and in silico structural analysis of the Parkinson disease-related kinase PINK1. Human Mutation. 32: 369-78
Mutez E, Larvor L, Leprêtre F, et al. (2011) Transcriptional profile of Parkinson blood mononuclear cells with LRRK2 mutation. Neurobiology of Aging. 32: 1839-48
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