Hemen, argitalpenen zerrenda zabalena IIS Biodonostia kronologikoki agerian (gehienak zaharrenak egindako azken aurrera) agertzen diren.

Inter-individual Differences in CpG Methylation at D4Z4 Correlate with Clinical Variability in FSHD1 and FSHD2 – 1

Lemmers RJ, Goeman JJ, van der Vliet PJ, van Nieuwenhuizen MP, Balog J, Vos-Versteeg M, Camano P, Ramos Arroyo MA, Jerico I, Rogers MT, Miller DG, Upadhyaya M, Verschuuren JJGM, Lopez de Munain A, BGM van Engelen BGM, Padberg GW, Sacconi S, Tawil R, Tapscott SJ, Bakker B, van der Maarel SM

Hum Mol Genet

25/09/14

Diagnostiko Molekularra

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 mutations on D4Z4 hypomethylation and disease penetrance in FSHD2

van den Boogaard M, Lemmers RJ, Camano P, van der Vliet PJ, Voermans N, van Engelen BG, López de Munain A, Tapscott SJ, van der Stoep N, Tawil R, van der Maarel SM

Eur J Hum Genet

25/08/14

Diagnostiko Molekularra

Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation

Paradas C, Camaño P, Otaegui D, Oz O, Emmanuele V, DiMauro S, Hirano M

JAMA Neurol

21/11/13

Diagnostiko Molekularra

Effects of resveratrol on obesity-related inflammation markers in adipose tissue of genetically obese rats.

Gómez-Zorita S, Fernández-Quintela A, Lasa A, Hijona E, Bujanda L, Portillo MP.

Nutrition. 2013 Nov-Dec;29(11-12):1374-80.

11/11/13

Animaliategiak eta Operazio-gela Esperimentalak

Several statins increase body and liver fat accumulation in a model of metabolic syndrome.

Aguirre L, Hijona E, Macarulla MT, Gracia A, Larrechi I, Bujanda L, Hijona L, Portillo MP

J Physiol Pharmacol. 2013 Jun;64(3):281-8.

13/06/13

Animaliategiak eta Operazio-gela Esperimentalak

Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia

Peyer AK, Kinter J, Hench J, Frank S, Fuhr P, Thomann S, Fischmann A, Kneifel S, Camaño P, Munain AL, Sinnreich M, Renaud S

Neuromuscul Disord

07/02/13

Diagnostiko Molekularra

?-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

Genomika Unitateak

C3KO mouse expression analysis: downregulation of the muscular dystrophy Ky protein and alterations in muscle aging

Jaka O, Kramerova I, Azpitarte M, López de Munain A, Spencer M, Sáenz A.

Neurogenetics

13/11/12

Zelula Hazkuntza

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

Genomika Unitateak

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

Genomika Unitateak

Modeling neural differentiation on micropatterned substrates coated with neural matrix components

García-Parra P, Cavaliere F, Maroto M, Bilbao L, Obieta I, López de Munain A, Alava JI, Izeta A.

Front Cell Neurosci

06/10/12

Zelula Hazkuntza

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

Genomika Unitateak

Resveratrol attenuates steatosis in obese Zucker rats by decreasing fatty acid availability and reducing oxidative stress.

Gómez-Zorita S, Fernández-Quintela A,Macarulla MT, Aguirre L, Hijona E, Bujanda L, Milagro F, Martínez JA, Portillo MP.

British Journal of Nutrition

10/07/12

Animaliategiak eta Operazio-gela Esperimentalak

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

Genomika Unitateak