A Cost-Effective Mutation Screening Strategy for Inherited Retinal Dystrophies.

Barandika O, Irigoyen C, Anasagasti A, Egiguren G, Ezquerra-Inchausti M, López de Munain A, Ruiz-Ederra J.

Ophthalmic Res. 2016; 56: 123-131. FI: 1,729 (Q3).

Propuesta de modelo para sustituir carbamacepina u oxcarbacepina por acetato de eslicarbacepina en la practica clinica.

Poza-Aldea JJ.

Revista De Neurologia. 2016; 63: 219-223. FI: 0,743 (Q4).

Pompe Disease and Autophagy: Partners in Crime, or Cause and Consequence?

Rodriguez-Arribas M, Bravo-San Pedro JM, Gomez-Sanchez R, Yakhine-Diop SMS, Martinez-Chacon G, Uribe-Carretero E, Pinheiro De Castro DCJ, Casado-Naranjo I, Lopez de Munain A, Niso-Santano M, Fuentes JM, Gonzalez-Polo, RA.

Current Medicinal Chemistry. 2016; 23: 2275-2285. FI: 3,249 (Q2).

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.

Molecular Diagnosis & Therapy. 2016; 20: 481-491. FI: 1,909 (Q3).

Safety, efficacy and outcome-related factors of perampanel over 12 months in a real-world setting: The FYDATA study.

Villanueva V, Garces M, Lopez-Gonzalez FJ, Rodriguez-Osorio X, Toledo M, Salas-Puig J, Gonzalez-Cuevas M, Campos D, Serratosa JM, Gonzalez-Giraldez B, Mauri JA, Camacho JL, Suller A, Carreno M, Gomez JB, Montoya J, Rodriguez-Uranga J, Saiz-Diaz R, Gonzalez-de la Alejai, J, Castillo A, Lopez-Trigo J, Poza JJ, Flores J, Querol R, Ojeda J, Giner P, Molins A, Esteve P, Baiges JJ.

Epilepsy Research. 2016; 126: 201-210. FI: 2,367 (Q3).

MAPT H1 Haplotype is Associated with Late-Onset Alzheimer’s Disease Risk in APOE?4 Noncarriers: Results from the Dementia Genetics Spanish Consortium.

Pastor P, Moreno F, Clarimon J, Ruiz Ag, Combarros O, Calero M, Lopez de Munain A, Bullido MJ, de Pancorbo MM, Carro E, Antonell A, Coto E, Ortega-Cubero S, Hernandez I, Tarraga L, Boada M, Lleo A, Dols-Icardo O, Kulisevsky J,Vazquez-Higuera JL, Infante J, Rabano A, Fernandez-Blazquez, M, Valenti M, Indakoetxea B, Barandiaran M, Gorostidi A, Frank-Garcia A, Sastre I, Lorenzo E, Pastor MA, Elcoroaristizabal X, Lennarz M, Maier W, Ramirez A, Serrano-Rios M, Lee SE, Sanchez-Juan P, DEGESCO.

Journal Of Alzheimers Disease. 2016; 49: 343-352. FI: 3,731 (Q2).

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes.

Díaz-Manera J, Alejaldre A, González L, Olivé M, Gómez-Andrés D, Muelas N, Vílchez JJ, Llauger J, Carbonell P, Márquez-Infante C, Fernández-Torrón R, Poza JJ, López de Munáin A, González-Quereda L, Mirabet S, Clarimon J, Gallano P, Rojas-García R, Gallardo E, Illa I.

Neuromuscular Disorders. 2016; 26: 33-40. FI: 2,969 (Q2).

Weak supervision and other non-standard classification problems: A taxonomy.

Hernandez-Gonzalez J, Inza I, Lozano JA.

Pattern Recognition Letters. 2016; 69: 49-55. FI: 1,995 (Q2).

Anterior capsule opacification after femtosecond laser-assisted cataract surgery: Clinical classification versus Scheimpflug device densitometry values.

Alberdi T, Mendicute J, Bascarán L, Goñi N, Barandika O, Ruiz-Ederra J.

Journal Of Cataract And Refractive Surgery. 2016; 42: 826-832. FI: 2,687 (Q2).

Cyclopropanation reactions catalysed by dendrimers possessing one metalloporphyrin active site at the core: linear and sigmoidal kinetic behaviour for different dendrimer generations.

Vins, P, de Cozar A, Rivilla I, Novakova K, Zangi R, Cvacka J, Arrastia I, Arrieta A, Drasar P, Miranda JI, Cossio FP.

Tetrahedron. 2016; 72: 1120-1131. FI: 2,651 (Q2).

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

Van den Boogaard ML, Lemmers RJ, Camaño P, van der Vliet PJ, Voermans N, van Engelen BG, Lopez de Munain A, Tapscott SJ, van der Stoep N, Tawil R, van der Maarel SM.

European Journal Of Human Genetics. 2016; 24: 78-85. FI: 4,287 (Q1).

Down-regulation of glutamatergic terminals (VGLUT1) driven by Aß in Alzheimer’s disease.

Rodriguez-Perdigon M, Tordera RM, Gil-Bea FJ, Gerenu G, Ramirez MJ, Solas M.

Hippocampus. 2016; 26: 1303-1312. FI: 3,945 (Q2).

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.

Evangelista T, Wood L, Fernandez-Torron R, Williams M, Smith D, Lunt P, Hudson J, Norwood F, Orrell R, Willis T, Hilton-Jones D, Rafferty K, Guglieri M, Lochmüller H.

Journal Of Neurology. 2016; 263: 1401-1408. FI: 3,389 (Q2).

SncRNA (microRNA &snoRNA) opposite expression pattern found in multiple sclerosis relapse and remission is sex dependent.

Muñoz-Culla M, Irizar H, Sáenz-Cuesta M, Castillo-Triviño T, Osorio-Querejeta I, Sepúlveda L, López de Munain A, Olascoaga J, Otaegui D.

Scientific Reports. 2016; 6: 20126-20126. FI: 4,259 (Q1).