Results 121 to 130 of about 1,798 (199)
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings. [PDF]
Int J Mol Sci, 2021 Martínez-Monseny AF, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, Martorell L, Muchart J, Carrera L, Ortez CI, Nascimento A, Oliva B, Fernández-Fernández JM, Serrano M. +13 moreeuropepmc +1 more sourceBiallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease. [PDF]
Ann NeurolEstévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez C, Expósito-Escudero J, Yubero D, Muchart J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero L, Bönnemann CG, Nascimento A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D, Palau F. +23 moreeuropepmc +1 more sourceFetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum. [PDF]
Ann Clin Transl NeurolPérez-Vidarte F, Estévez-Arias B, Matalonga L, Yubero D, Codina A, Ortez C, Medina J, DeSena DeCabo L, Carrera-García L, Expósito-Escudero J, Jou C, Tizzano EF, Nascimento A, Natera-de Benito D. +13 moreeuropepmc +1 more sourceLoss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder. [PDF]
BrainMaroni MJ, Barton M, Lynch K, Deshwar AR, Campbell PD, Millard J, Lee R, Cohen A, Ahmad R, Paranjapye A, Faundes V, Repetto GM, McKenna C, Shillington AL, Phornphutkul C, Hove HB, Mancini GMS, Schot R, Barakat TS, Richmond CM, Lauzon J, Ibrahim AIE, Nava C, Héron D, van Aalst MMA, Atemin S, Sleptsova M, Aleksandrova I, Todorova A, Watkins DL, Kozenko MA, Natera-de Benito D, Ortez C, Estevez-Arias B, Lecoquierre F, Cassinari K, Guerrot AM, Levy J, Latypova X, Verloes A, Innes AM, Yang XR, Banka S, Vill K, Jacob M, Kruer M, Skidmore P, Galaz-Montoya CI, Bakhtiari S, Mester JL, Granato M, Armache KJ, Costain G, Korb E. +53 moreeuropepmc +1 more sourceLeptin Protects Against the Development and Expression of Cocaine Addiction-Like Behavior in Heterogeneous Stock Rats. [PDF]
Front Behav Neurosci, 2022 Carrette LLG, Corral C, Boomhower B, Brennan M, Crook C, Ortez C, Shankar K, Simpson S, Maturin L, Solberg Woods LC, Palmer AA, de Guglielmo G, George O. +12 moreeuropepmc +1 more sourceCyberinfrastructure for machine learning applications in agriculture: experiences, analysis, and vision. [PDF]
Front Artif IntellWaltz L, Katari S, Hong C, Anup A, Colbert J, Potlapally A, Dill T, Porter C, Engle J, Stewart C, Subramoni H, Shearer S, Machiraju R, Ortez O, Lindsey L, Nandi A, Khanal S. +16 moreeuropepmc +1 more sourcePublisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein. [PDF]
Sci Rep, 2020 Milev MP, Stanga D, Schänzer A, Nascimento A, Saint-Dic D, Ortez C, Natera-de Benito D, Barrios DG, Colomer J, Badosa C, Jou C, Gallano P, Gonzalez-Quereda L, Töpf A, Johnson K, Straub V, Hahn A, Sacher M, Jimenez-Mallebrera C. +18 moreeuropepmc +1 more sourceCharacterization of cardiac involvement in children with LMNA-related muscular dystrophy. [PDF]
Front Cell Dev Biol, 2023 Cesar S, Campuzano O, Cruzalegui J, Fiol V, Moll I, Martínez-Barrios E, Zschaeck I, Natera-de Benito D, Ortez C, Carrera L, Expósito J, Berrueco R, Bautista-Rodriguez C, Dabaj I, Gómez García-de-la-Banda M, Quijano-Roy S, Brugada J, Nascimento A, Sarquella-Brugada G. +18 moreeuropepmc +1 more sourceMYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights. [PDF]
Neuropathol Appl NeurobiolMadrigal I, Villar-Vera C, Arca G, Expósito-Escudero J, Rodríguez-Revenga L, Piolatti-Luna A, Muelas N, Vilchez R, Ciutad Celdran M, Codina A, Estévez-Arias B, Carrera-Garcia L, Ortez C, Rodriguez-Carunchio L, Sebastiani G, Azorin I, Nascimento A, Jou C, Vilchez JJ, Natera-de Benito D. +19 moreeuropepmc +1 more source
