Publications
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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. Number of citations: 20
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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. Number of citations: 9
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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. Number of citations: 29
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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-Marquilles 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. Number of citations: 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. Number of citations: 12
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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): . Number of citations: 25
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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): . Number of citations: 13
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Casas-Alba D, Martinez-Monseny T, Pino-Ramirez RM, Alsina L, Castejón Ponce E, Navarro S, Pérez-Dueñas B, Serrano M, Palau F and García-Alix A.
Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations
HUMAN MUTATION . 39(12): 1752-1763. Number of citations: 43
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Batllori-Tragant M, Molero M, Ormazabal-Herrero A, Montero-Sanchez R, Sierra-March C, Ribes A, Montoya C, Ruiz-Pesini E, O'Callaghan-Gordo M, Pias L, Nascimento-Osorio A, Palau F, Armstrong-Moron J, Yubero-Siles D, Ortigoza-Escobar JD, Garcia-Cazorla A and Artuch-Iriberri R.
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience
JOURNAL OF INHERITED METABOLIC DISEASE . 41(6): 1147-1158. Number of citations: 11
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Martinez-Monseny T, Bolasell M, Arjona-Fernandez C, Martorell-Sampol L, Yubero-Siles D, Armstrong-Moron J, Maynou-Fernández J, Fernandez-Isern G, Del Carmen Salgado M, Palau F and Serrano M.
Mutation of PACS1: the milder end of the spectrum
CLINICAL DYSMORPHOLOGY . 27(4): 148-150. Number of citations: 19
