Publicaciones
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Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S and RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors.
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity
JOURNAL OF MOLECULAR DIAGNOSTICS . 22(9): 1205-1215. Nº de citas: 15
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Natera-de Benito D, Muchart-Lopez J, Debora Coritza Itzep Perez, Ortez-Gonzalez CI, González-Quereda L, Gallano P, Ramírez-Camacho A, Aparicio J, Domínguez-Carral J, Carrera-García L, Exposito-Escudero JM, Pardo Cardozo N, Cuadras-Palleja D, Codina-Bergadà A, Jou-Munoz C, Jimenez-Mallebrera C, Palau F, Colomer J, Arzimanoglou A, Nascimento-Osorio A and San Antonio-Arce MV.
Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization
Epilepsia . 61(5): 971-983. Nº de citas: 16
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Muñoz-Lasso DC, Mollá B, Calap-Quintana P, García-Giménez JL, Pallardo FV, Palau F and Gonzalez-Cabo P.
Cofilin dysregulation alters actin turnover in frataxin-deficient neurons.
SCIENTIFIC REPORTS . 10(1): 5207-5207. Nº de citas: 12
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Martinez-Monseny T, Casas-Alba D, Arjona-Fernandez C, Bolasell M, Casano-Sancho P, Muchart-Lopez J, Ramos F, Martorell-Sampol L, Palau F, García-Alix A and Serrano M.
Okur-Chung neurodevelopmental syndrome in a patient from Spain
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 182(1): 20-24. Nº de citas: 16
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Pillai NR, Yubero-Siles D, Shayota BJ, De Oyarzabal-Sanz AL, Ghosh R, Sun Q, Azamian MS, Arjona-Fernandez C, Brandi-Tarrau N, Palau F, Lalani SR, Artuch-Iriberri R, Garcia-Cazorla A and Scott DA.
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 179(12): 2459-2468. Nº de citas: 8
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Fernandez-Lizarbe S, Civera-Tregon A, Cantarero-Abad L, Herrer I, Juarez P, Hoenicka J and Palau F.
Neuroinflammation in the pathogenesis of axonal Charcot-Marie-Tooth disease caused by lack of GDAP1
EXPERIMENTAL NEUROLOGY . 320: 113004-113004. Nº de citas: 23
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Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina-Bergadà A, Jou-Munoz C, Roldan-Molina M, Palau F, Hoenicka J, Pijuan J, Ortez-Gonzalez CI, Exposito-Escudero JM, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S and Nascimento-Osorio A.
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 179(6): 915-926. Nº de citas: 12
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Mollá B, Muñoz-Lasso DC, Calap P, Fernández-Vilata A, de la Iglesia-Vaya M, Pallardó FV, Moltó MD, Palau F and González-Cabo P.
Phosphodiesterase Inhibitors Revert Axonal Dystrophy in Friedreich's Ataxia Mouse Model
NEUROTHERAPEUTICS . 16(2): 432-449. Nº de citas: 9
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González-Sánchez P, Satrústegui J, Palau F and Del Arco A.
Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 20(2): . Nº de citas: 19
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Jou-Munoz C, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Darling A, Pias-Peleteiro L, Pérez-Dueñas B, Pineda M, Codina-Bergadà A, Arjona-Fernandez C, Armstrong-Moron J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero-Sanchez R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya C, Yubero-Siles D and Artuch-Iriberri R.
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease
Journal of Clinical Medicine . 8(1): . Nº de citas: 13