This page displays the global list of Biodonostia IIS publications listed in chronological order (from the newest to the oldest).
Inter-individual Differences in CpG Methylation at D4Z4 Correlate with Clinical Variability in FSHD1 and FSHD2 – 3
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
Molecular Diagnostics
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
Molecular Diagnostics
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
Molecular Diagnostics
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
Animal Facility and Experimental Operations
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
Animal Facility and Experimental Operations
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
Molecular Diagnostics
?-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
Genomics Unit
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
Cell Cultures
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
Genomics Unit
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
Genomics Unit
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
Cell Cultures
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
Genomics Unit
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
Animal Facility and Experimental Operations
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
Genomics Unit
