Publicacions
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Pijuan-Marquilles J, Ortigoza-Escobar JD, Juan Jairo Ortiz Guerra, Alcalá-San Martin A, Calvo MJ, Cubells M, Hernando-Davalillo C, Palau F and Hoenicka J.
PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder
AUTISM RESEARCH . 14(6): 1088-1100. Nº de cites: 9
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Martinez-Monseny T, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, Martorell-Sampol L, Muchart-Lopez J, Carrera-García L, Ortez-Gonzalez CI, Nascimento-Osorio A, Oliva B, Fernández-Fernández JM and Serrano M.
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(10): 5180. Nº de cites: 6
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Pérez-Santamarina E, García-Ruiz P, Martínez-Rubio D, Ezquerra M, Pla-Navarro I, Puente J, Martí MJ, Palau F and Hoenicka J.
Regulatory rare variants of the dopaminergic gene ANKK1 as potential risk factors for Parkinson's disease
SCIENTIFIC REPORTS . 11(1): 9879-9879. Nº de cites: 4
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Reetz K, Dogan I, Hilgers RD, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, Rodríguez de Rivera Garrido FJ, Rummey C, Schöls L, Hayer SN, Klockgether T, Giordano I, Didszun C, Rai M, Pandolfo M, Schulz JB and EFACTS study group.
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study.
LANCET NEUROLOGY . 20(5): 362-372. Nº de cites: 55
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Civera-Tregon A, Dominguez-Brezosa L, Martínez-Valero P, Serrano C, Vallmitjana A, Benítez R, Hoenicka J, Satrústegui J and Palau F.
Mitochondria and calcium defects correlate with axonal dysfunction in GDAP1-related Charcot-Marie-Tooth mouse model
NEUROBIOLOGY OF DISEASE . 152: 105300-105300. Nº de cites: 17
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de Andrés-Nogales F, Cruz E, Calleja MÁ, Delgado O, Gorgas MQ, Espín J, Mestre-Ferrándiz J, Palau F, Ancochea A, Arce R, Domínguez-Hernández R, Casado MÁ and FinMHU-MCDA Group.
A multi-stakeholder multicriteria decision analysis for the reimbursement of orphan drugs (FinMHU-MCDA study).
ORPHANET JOURNAL OF RARE DISEASES . 16(1): 186-186. Nº de cites: 12
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Díaz-Santiago E, Claros MG, Yahyaoui R, de Diego-Otero Y, Calvo R, Hoenicka J, Palau F, Ranea JAG and Perkins JR.
Decoding Neuromuscular Disorders Using Phenotypic Clusters Obtained From Co-Occurrence Networks
Frontiers in Molecular Biosciences . 8: 635074-635074. Nº de cites: 5
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Chen Z, Zhang D, Reynolds RH, Gustavsson EK, García-Ruiz S, D'Sa K, Fairbrother-Browne A, Vandrovcova J, Hardy J, Houlden H, Gagliano Taliun SA, Botía J, Ryten M and International Parkinson’s Disease Genomics Consortium (IPDGC).
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage
NATURE COMMUNICATIONS . 12(1): 2076-2076. Nº de cites: 9
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Kia DA, Zhang D, Guelfi S, Manzoni C, Hubbard L, Reynolds RH, Botía J, Ryten M, Ferrari R, Lewis PA, Williams N, Trabzuni D, Hardy J, Wood NW and United Kingdom Brain Expression Consortium (UKBEC) and the International Parkins.
Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets
JAMA NEUROLOGY . 78(4): 464-472. Nº de cites: 110
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Yubero-Siles D, Natera-de Benito D, Pijuan-Marquilles J, Armstrong-Moron J, Martorell-Sampol L, Fernandez-Isern G, Maynou-Fernández J, Jou-Munoz C, Roldan-Molina M, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(8): 4274. Nº de cites: 10