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Glia|April 5, 2013
Sh3tc2 deficiency affects neuregulin-1/ErbB signalingEstelle Arnaud Gouttenoire, Vincenzo Lupo, Eduardo Calpena, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|February 15, 2019
Phosphodiesterase Inhibitors Revert Axonal Dystrophy in Friedreich's Ataxia Mouse ModelBelén Mollá, Diana C Muñoz-Lasso, Pablo Calap, et al.
European Journal of Medical Genetics|January 30, 2022
The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patientAnastasia Martinez-Esteve Melnikova, Jordi Pijuan, Javier Aparicio, et al.
Cell Death Discovery|July 1, 2023
Rapid degeneration of iPSC-derived motor neurons lacking Gdap1 engages a mitochondrial-sustained innate immune responseMarian León, Javier Prieto, María Micaela Molina-Navarro, et al.
International Journal of Molecular Sciences|April 30, 2021
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular DiseasesDèlia Yubero, Daniel Natera-de Benito, Jordi Pijuan, et al.
Frontiers in Molecular Neuroscience|June 30, 2022
Frataxin Deficit Leads to Reduced Dynamics of Growth Cones in Dorsal Root Ganglia Neurons of Friedreich's Ataxia YG8sR Model: A Multilinear Algebra ApproachDiana C Muñoz-Lasso, Belén Mollá, Jhon J Sáenz-Gamboa, et al.
Parkinsonism & Related Disorders|January 24, 2018
Behavioral addictions in early-onset Parkinson disease are associated with DRD3 variantsXochitl Helga Castro-Martínez, Pedro J García-Ruiz, Carlos Martínez-García, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 17, 2007
X-linked infantile spinal muscular atrophy: clinical definition and molecular mappingDevin Dressman, Mary Ellen Ahearn, Kemal O Yariz, et al.
Orphanet Journal of Rare Diseases|August 23, 2012
Guiametabolica.org: empowerment through internet tools in inherited metabolic diseasesManuel Armayones, M Antònia Vilaseca, Júlia Cutillas, et al.
Frontiers in Neuroscience|February 18, 2022
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic DiseasesJordi Pijuan, Lara Cantarero, Daniel Natera-de Benito, et al.
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