Publications
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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. Number of citations: 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. Number of citations: 54
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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. Number of citations: 16
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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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 10
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Zarate YA, Bosanko KA, Thomas MA, Miller DT, Cusmano-Ozog K, Martinez-Monseny T, Curry CJ, Graham JM Jr, Velsher L, Bekheirnia MR, Seidel V, Dedousis D, Mitchell AL, DiMarino AM, Riess A, Balasubramanian M, Fish JL, Caffrey AR, Fleischer N, Pierson TM and Lacro RV.
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
CLINICAL GENETICS . 99(4): 547-557. Number of citations: 11
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Batlle C, Calvo I, Iglesias V, J Lynch C, Gil-Garcia M, Serrano M and Ventura S.
MED15 prion-like domain forms a coiled-coil responsible for its amyloid conversion and propagation.
Communications Biology . 4(1): 414-414. Number of citations: 11