Parkin and LRRK2/Dardarin Mutations in Early Onset Parkinson’s Disease in the Basque Country (Spain)

Martí-Massó JF, Ruiz-Martínez F, Paisán-Ruiz C, Gorostidi A, Bergareche A, Lopez de Munain A, Alzualde A, Pérez-Tur J

Journal of Behavioral and Brain Science. 2015; 3 (5): 101-108. FI: 0.56.

30/06/15

GIGYF2 mutation in late-onset Parkinson’s disease with cognitive impairment

Ruiz-Martinez J, Krebs CE, Makarov V, Gorostidi A, Martí-Massó JF, Paisán-Ruiz C

J Hum Genet. 2015; 60 (10): 637-40. FI: 2.526.

30/06/15

Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

Dols-Icardo O, Nebot I, Gorostidi A, Ortega-Cubero S, Hernández I, Rojas-García R, García-Redondo A, Povedano M, Lladó A, Álvarez V, Sánchez-Juan P, Pardo J, Jericó I, Vázquez-Costa J, Sevilla T, Cardona F, Indakoechea B, Moreno F, Fernández-Torrón R, Muñoz-Llahuna L, Moreno-Grau S, Rosende-Roca M, Vela Á, Muñoz-Blanco JL, Combarros O, Coto E, Alcolea D, Fortea J, Lleó A, Sánchez-Valle R, Esteban-Pérez J, Ruiz A, Pastor P, López de Munain A, Pérez-Tur J, Clarimón J. Dementia Genetics Spanish Consortium (DEGESCO)

Brain. 2015; 138 (12): e400. FI: 10.226.

30/06/15

?-Synuclein Levels in Blood Plasma from LRRK2 Mutation Carriers.

Gorostidi A, Bergareche A, Ruiz-Martínez J, Martí-Massó JF, Cruz M, Varghese S, Qureshi MM, Alzahmi F, Al-Hayani A, de Munáin AL, El-Agnaf OM.

PLoS One.

27/12/12

Prion protein codon 129 polymorphism modifies age at onset of frontotemporal dementia with the C.709-1G>A progranulin mutation.

Moreno F, Alzualde A, Camblor PM, Barandiaran M, Van Deerlin VM, Gabilondo A, MartíMassó JF, López de Munain A, Indakoetxea B.

Neurogenetics, Alzheimer Dis AssocDisord

13/11/12

The MAPK1/3 pathway is essential for the deregulation of autophagy observed in G2019S LRRK2 mutant fibroblasts.

Bravo-San Pedro JM, Gómez-Sánchez R, Niso-Santano M, Pizarro-Estrella E, Aiastui-Pujana A, Gorostidi A, Climent V, López de Maturana R, Sánchez-Pernaute R, López de Munain A, Fuentes JM, González-Polo RA.

Autophagy.

08/10/12

Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide.

García-Redondo A, Dols-Icardo O, Rojas-García R, Esteban-Pérez J, Cordero-Vázquez P, Muñoz-Blanco JL, Catalina I, González-Muñoz M, Varona L, Sarasola E, Povedano M, Sevilla T, Guerrero A, Pardo J, de Munain AL, Márquez-Infante C, de Rivera FJ, Pastor P, Jericó I, de Arcaya AA, Mora JS, Clarimón J; The C9ORF72 SpanishStudyGroup, Gonzalo-Martínez JF, Juárez-Rufián A, Atencia G, Jiménez-Bautista R, Morán Y, Mascías J, Hernández-Barral M, Kapetanovic S, García-Barcina M, Alcalá C, Vela A, Ramírez-Ramos C, Galán L, Pérez-Tur J, Quintáns B, Sobrido MJ, Fernández-Torrón R, Poza JJ, Gorostidi A, Paradas C, Villoslada P, Larrodé P, Capablo JL, Pascual-Calvet J, Goñi M, Morgado Y, Guitart M, Moreno-Laguna S, Rueda A, Martín-Estefanía C, Cemillán C, Blesa R, Lleó A.

Hum Mutat.

30/08/12

The LRRK2 G2019S mutant exacerbates basal autophagy through activation of the MEK/ERK pathway.

Bravo-San Pedro JM, Niso-Santano M, Gómez-Sánchez R, Pizarro-Estrella E, Aiastui-Pujana A, Gorostidi A, Climent V, López de Maturana R, Sánchez-Pernaute R, López de Munain A, Fuentes JM, González-Polo RA.

Cell Mol Life Sci.

08/07/12

Oncogenicity of the transcription factor Sox9.

Matheu A, Collado M, Wise C, Manterola L, Cekaite L, Tye A, Canamero M, Bujanda L, Schedl A, Cheah K, Skotheim R, Lothe R, López de Munain A, Briscoe J, Serrano M & Novell-Badge R.

CancerResearch.

07/05/12

Current Mutation Discovery Approaches in Retinitis Pigmentosa.

Ander Anasagasti; Cristina Irigoyen; Olatz Barandika; Adolfo López de Munain, Javier Ruiz-Ederra.

Vision Research

07/05/12