Publicacions
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Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch-Iriberri R, Gallano P, Garrabou G, González JR, Grinberg-Vaisman DR, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA and Beltran S.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
JOURNAL OF MOLECULAR DIAGNOSTICS . 24(5): 529-542.
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Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
CLINICAL GENETICS . 101(5-6): 481-493.
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Martinez-Esteve Melnikova A, Pijuan J, Aparicio J, Ramírez-Camacho A, Altisent-Huguet A, Vilanova-Adell A, Arzimanoglou Alexandros, Armstrong-Moron J, Palau F, Hoenicka J and San Antonio-Arce MV.
The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient.
EUROPEAN JOURNAL OF MEDICAL GENETICS . 65(3): 104442-104442.
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Pijuan J, Cantarero-Abad L, Natera-de Benito D, Altimir A, Altisent-Huguet A, Díaz-Osorio Y, Carrera-García L, Expósito-Escudero J, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases.
FRONTIERS IN NEUROSCIENCE . 16: 784880-784880.
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Nuevo-Tapioles C, Santacatterina F, Sánchez-Garrido B, Arenas CN, Robledo-Bérgamo A, Martínez-Valero P, Cantarero-Abad L, Pardo B, Hoenicka J, Murphy MP, Satrústegui J, Palau F and Cuezva JM.
Effective therapeutic strategies in a preclinical mouse model of Charcot-Marie-Tooth disease.
HUMAN MOLECULAR GENETICS . 30(24): 2441-2455.
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Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B, Martín MA, Montoya J and Artuch-Iriberri R.
The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call.
GENES . 12(10): 1590.
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Juárez-Escoto E, Cantarero-Abad L, Hoenicka J and Palau F.
alpha-Synuclein deficiency or overexpression induces neuroinflammatory responses in mice
FEBS Open Bio . 11: 471-472.
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Natera-de Benito D, Sola A, Sousa PR, Boronat S, Expósito-Escudero J, 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. Nº de cites: 1
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Pijuan J, Ortigoza-Escobar JD, Juan Jairo Ortiz Guerra, Alcalá 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: 2
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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: 1