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

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

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

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

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, 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, Molecular Diagnostics, Molecular Diagnostics, 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

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, Genomics Unit, 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

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