Publications
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Poo P.
Problems of transition, experiences and neuropediatrician's point of view
REVISTA DE NEUROLOGIA . 60(CONGRESO 1): 1-10.
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Natera-de Benito D, Fons-Estupina C, Ulate-Campos A, Martorell-Sampol L and Poo P.
Clinical and genomic characterization of two patients with a duplication of 9q34: comparison and review of the literature
CLINICAL DYSMORPHOLOGY . 24(1): 38-43. Number of citations: 2
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Latzer IT, Roullet JB, Cesaro S, DiBacco ML, Arning E, Rotenberg A, Lee HHC, Opladen T, Jeltsch K, Garcia-Cazorla A, Julià-Palacios NA, Gibson KM, Bertoldi M and Pearl PL.
Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants.
research square . : .
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Díaz-Osorio Y, Gimeno-Agud H, Marí-Vico R, Illescas KS, Ramos JM, Darling A, Garcia-Cazorla A and De Oyarzabal-Sanz AL.
Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking Disorders.
JOURNAL OF INHERITED METABOLIC DISEASE . : .
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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 . : .