Publications
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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. Number of citations: 5
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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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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: 13
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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: 35
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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: 6
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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: 3
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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: 6
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Natera-de Benito D, Sola A, Sousa PR, Boronat S, Exposito-Escudero JM, Carrera-García L, Ortez-Gonzalez CI, Jou-Munoz C, Muchart-Lopez J, Rebollo M, Armstrong-Moron J, Colomer J, Garcia-Cazorla A, Hoenicka J, Palau F and Nascimento-Osorio A.
Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
PEDIATRIC NEUROLOGY . 119: 40-44. Number of citations: 3
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Natera-de Benito D, Ortez-Gonzalez CI, Jou-Munoz C, Jimenez-Mallebrera C, Codina-Bergadà A, Carrera-García L, Exposito-Escudero JM, César-Díaz S, Martorell-Sampol L, Gallano P, Gonzalez-Quereda L, Cuadras-Palleja D, Colomer J, Yubero-Siles D, Palau F and Nascimento-Osorio A.
The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort
PEDIATRIC NEUROLOGY . 115: 50-65. Number of citations: 7
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Peña-Chilet M, Roldán G, Perez-Florido J, Ortuño FM, Carmona R, Aquino V, Lopez-Lopez D, Loucera C, Fernandez-Rueda JL, Gallego A, García-Garcia F, González-Neira A, Pita G, Núñez-Torres R, Santoyo-López J, Ayuso C, Minguez P, Avila-Fernandez A, Corton M, Moreno-Pelayo MÁ, Morin M, Gallego-Martinez A, Lopez-Escamez JA, Borrego S, Antiñolo G, Amigo J, Salgado-Garrido J, Pasalodos-Sanchez S, Morte B, Spanish Exome Crowdsourcing Consortium, Carracedo Á, Alonso Á and Dopazo J.
CSVS, a crowdsourcing database of the Spanish population genetic variability.
NUCLEIC ACIDS RESEARCH . 49(D1): 1130-1137. Number of citations: 28