Publicaciones
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Godoy-Molina E, Serrano NL, Jiménez-González A, Villaronga M, Marqués Pérez-Bryan RM, Varela-Fernández R, Lotz-Esquivel S, Hevia Tuñón A, Trivedi PP, Horn N, Standing JF, Mangas-Sanjuan V, Capdevila M, Mateos A, Broun D, Lutsenko S, Medina-Rivera IF, Artuch-Iriberri R, Jou-Munoz C, Roldan-Molina M, Pedro Arango Sancho, Saez-Villafañe M, Ortiz-de-Urbina JJ, Pieras-López A, Duero M, Rosa Farré Riba, Pijuan-Marquilles J, Hoenicka J, Sacchettini JC, Petris MJ, Gohil VM and Palau F.
Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease.
JOURNAL OF CLINICAL INVESTIGATION . 135(19): .
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Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero JM, Yubero-Siles D, Muchart-Lopez J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero-Abad L, Bönnemann CG, Nascimento-Osorio A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D and Palau F.
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease
ANNALS OF NEUROLOGY . : .
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Vela-Desojo L, Pascual-Rodriguez A, Montal V, Guerrero C, Osuna-Lopez M, Guallar V, Palau F and Hoenicka J.
A new LRRK2 variant in a family with Parkinson's disease affects binding to RAB8A.
npj Parkinsons Disease . 11(1): 154-154.
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Estévez-Arias B, Matalonga L, Yubero-Siles D, Polavarapu K, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento-Osorio A, Hoenicka J, Palau F and Natera-de Benito D.
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases
EUROPEAN JOURNAL OF HUMAN GENETICS . 33(2): 239-247. Nº de citas: 6
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Hernández-Rodríguez J, Martínez-Valle F, Acebes X, Alerany C, Anton-Lopez J, Calvo G, Corral M, Cruz J, Mangues-Bafalluy MA, Mateo J, Rivera J, Salazar A, Francisco R, Mallol C, Reig-Viader R, Tigri-Santiña A, Ricart A and Palau F.
Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project
ORPHANET JOURNAL OF RARE DISEASES . 20(1): 42-42.
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Palau F, Cantarero-Abad L, Roldan-Molina M, Rodríguez-Sanz M, Mathison A, Díaz-Osorio Y, Pijuan-Marquilles J, Frías M, Urrutia R and Hoenicka J.
Abnormal Redox Balance at Membrane Contact Sites Causes Axonopathy in Gdap1-related Charcot-marie-tooth Disease.
research square . : .
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Dominguez-Brezosa L, Cantarero-Abad L, Rodríguez-Sanz M, Tort-Vázquez G, Garrido E, Johanna Troya Balseca, Saez M, Castro-Martinez X, Fernandez-Lizarbe S, Urquizu E, Calvo E, Lopez JA, Palomo T, Palau F and Hoenicka J.
ANKK1 Is a Wnt/PCP Scaffold Protein for Neural F-ACTIN Assembly
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 25(19): 10705. Nº de citas: 1
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Cascajo-Almenara MV, Julià-Palacios NA, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva-Mussara C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart-Lopez J, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero-Siles D, Garcia-Cazorla A, Bhan-Pandey U, Santos-Ocaña C and Artuch-Iriberri R.
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
EUROPEAN JOURNAL OF HUMAN GENETICS . 32(4): 426-434. Nº de citas: 8
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Brooks D, Burke E, Lee S, Eble TN, O'Leary M, Osei-Owusu I, Rehm HL, Dhar SU, Emrick L, Bick D, Nehrebecky M, Macnamara E, Casas-Alba D, Armstrong-Moron J, Prat-Torres CS, Martinez-Monseny T, Palau F, Liu P, Adams D, Lalani S, Rosenfeld JA and Burrage LC.
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
HUMAN GENETICS . 143(3): 279-291. Nº de citas: 5
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Pijuan-Marquilles J, Vilanova-Adell A, Casas-Alba D, Campistol-Plana J, Hoenicka J and Palau F.
Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants
CLINICAL GENETICS . 105(3): 340-342.