Analysis of HFE mutations and non-HFE gene mutations (TFR2 and SLC40A1) in patients with phenotypic hemochromatosis from the basque country

Castiella A, Zapata E, De Juan MD, Zubiaurre L, Otazua P, Fernandez J, Aragón L, Zuriarrain O, Gorostidi A.

Int. J. Lab. Hematol.2016; 38(1): 5-7. FI: 2,030(Q3). DOI: 10.1111/ijlh.12444.

30/06/16

DAT imaging and clinical biomarkers in relatives at genetic risk for LRRK2 R1441G Parkinson’s disease

Bergareche A, Rodríguez-Oroz MC, Estanga A, Gorostidi A, López de Munain A, Castillo-Triviño T, Ruiz-Martínez J, Mondragón E, Gaig C, Lomeña F, Sarasqueta C, Tolosa E, Martí-Massó JF.

Mov Disord. 2016; 31(3): 335-343. FI: 7,072(Q1). DOI: 10.1002/mds.26478.

30/06/16

Genetic Mutation Analysis of Parkinson’s Disease Patients Using Multigene Next-Generation Sequencing Panels

Gorostidi A, Martí-Massó JF, Bergareche A, Rodríguez-Oroz MC, López de Munain A, Ruiz-Martínez J.

Mol. Diagn. Ther. 2016; 20(5): 481-491. FI: 1,909(Q3). DOI: 10.1007/s40291-016-0216-1

30/06/16

Mutations in LRRK2 impair NF-κB pathway in iPSC-derived neurons

López de Maturana R, Lang V, Zubiarrain A, Sousa A, Vázquez N, Gorostidi A, Águila J, López de Munain A, Rodríguez M, Sánchez-Pernaute R.

J Neuroinflammation. 2016; 13(1): 295-0. FI: 5,102(Q1). DOI: 10.1186/s12974-016-0761-x.

30/06/16

Assessing the role of TUBA4A gene in frontotemporal degeneration

Dols-Icardo O, Iborra O, Valdivia J, Pastor P, Ruiz A, López de Munain A, Sánchez-Valle R, Álvarez V, Sánchez JP, Lleó A, Fortea J, Blesa R, Cardona F, Baquero M, Alonso MD, Ortega-Cubero S, Pastor MA, Razquin C, Boada M, Hernández I, Gorostidi A, Moreno F, Zulaika M, Lladó A, Coto E, Combarros O, Pérez-Tur J, Clarimón J, on behalf of The Dementia Genetics Spanish Consortium (DEGESCO)

Neurobiol Aging. 2016; Feb; 38: 215.e13-4. FI: 4.853.

29/02/16

SORT1 Mutation Resulting in Sortilin Deficiency and p75NTR Upregulation in a Family With Essential Tremor

Sánchez E, Bergareche A, Krebs CE, Gorostidi A, Makarov V, Ruiz-Martinez J, Chorny A, Lopez de Munain A, Marti-Masso JF, Paisán-Ruiz C

ASN Neuro. 2015; 7 (4). FI: 4.436.

30/06/15

SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy

Bergareche A, Bednarz M, Sánchez E, Krebs CE, Ruiz-Martinez J, De la Riva P, Makarov V, Gorostidi A, Jurkat-Rott K, Marti-Masso JF, Paisán-Ruiz C

Hum Mol Genet. 2015; 24 (24): 7111-20. FI: 6.677.

30/06/15

APT H1 Haplotype is Associated with Late-Onset Alzheimer’s Disease Risk in APOEɛ4 Noncarriers: Results from the Dementia Genetics Spanish Consortium

Pastor P, Moreno F, Clarimón J, Ruiz A, Combarros O, Calero M, López de Munain A, Bullido MJ, de Pancorbo MM, Carro E, Antonell A, Coto E, Ortega-Cubero S, Hernandez I, Tárraga L, Boada M, Lleó A, Dols-Icardo O, Kulisevsky J, Vázquez-Higuera JL, Infante J, Rábano A, Fernández-Blázquez MÁ, Valentí M, Indakoetxea B, Barandiarán M, Gorostidi A, Frank-García A, Sastre I, Lorenzo E, Pastor MA, Elcoro Aristizabal X, Lennarz M, Maier W, Rámirez A, Serrano-Ríos M, Lee SE, Sánchez-Juan P

J Alzheimers Dis. 2015; 49 (2): 343-52. FI: 4.151.

30/06/15

Beyond Asexual Development: Modifications in the Gene Expression Profile Caused by the Absence of the Aspergillus nidulans Transcription Factor FlbB

Oiartzabal-Arano E, Garzia A, Gorostidi A, Ugalde U, Espeso EA, Etxebeste O

Genetics. 2015; 199 (4): 1127-42. FI: 4.866.

30/06/15

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