Publicacions
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Cantarero-Abad L, García-Vargas G, Hoenicka J and Palau F.
Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites
BIOLOGY OPEN . 12(4): . Nº de cites: 1
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Nascimento-Osorio A, Bruels CC, Donkervoort S, Foley AR, Codina-Bergadà A, Milisenda JC, Estrella EA, Li C, Pijuan-Marquilles J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Martorell-Sampol L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez-Gonzalez CI, Palau F, Ghosh PS, Darras BT, Jou-Munoz C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB and Natera-de Benito D.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
ACTA NEUROPATHOLOGICA . 145(4): 479-496. Nº de cites: 2
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López-López D, Roldán G, Fernández-Rueda JL, Bostelmann G, Carmona R, Aquino V, Perez-Florido J, Ortuño F, Pita G, Núñez-Torres R, González-Neira A, Peña-Chilet M and Dopazo J.
A crowdsourcing database for the copy-number variation of the Spanish population
HUMAN GENOMICS . 17(1): 20-20. Nº de cites: 2
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Natera-de Benito D, Olival J, Garcia-Cabau C, Jou-Munoz C, Roldan-Molina M, Codina-Bergadà A, Exposito-Escudero JM, Batlle C, Carrera-García L, Ortez-Gonzalez CI, Salvatella X, Palau F, Nascimento-Osorio A and Hoenicka J.
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants
Annals of Clinical and Translational Neurology . 10(3): 408-425. Nº de cites: 1
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Lorenzo D, Esquerda-Areste M, Palau F, Cambra-Lasaosa FJ and Grup Investigació en Bioética.
Ethics and Genomic Editing Using the Crispr-Cas9 Technique: Challenges and Conflicts
NanoEthics . 16(3): 313-321. Nº de cites: 4
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Fernandez-Isern G, Yubero-Siles D, Palau F and Armstrong-Moron J.
Molecular Modelling Hurdle in the Next-Generation Sequencing Era.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(13): .
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Muñoz-Lasso DC, Mollá B, Sáenz-Gamboa JJ, Insuasty E, de la Iglesia-Vaya M, Pook MA, Pallardó FV, Palau F and Gonzalez-Cabo P.
Frataxin Deficit Leads to Reduced Dynamics of Growth Cones in Dorsal Root Ganglia Neurons of Friedreich's Ataxia YG8sR Model: A Multilinear Algebra Approach
FRONTIERS IN MOLECULAR NEUROSCIENCE . 15: 912780-912780. Nº de cites: 2
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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. Nº de cites: 6
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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. Nº de cites: 8
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Martinez-Esteve Melnikova A, Pijuan-Marquilles J, Aparicio J, Ramírez-Camacho A, Altisent A, Vilanova-Adell A, Arzimanoglou A, 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. Nº de cites: 3