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JIMD Reports|February 23, 2013
5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense ChangesEduardo Calpena, Mercedes Casado, Dolores Martínez-Rubio, et al.
Autism Research : Official Journal of the International Society for Autism Research|March 22, 2021
PLXNA2 and LRRC40 as candidate genes in autism spectrum disorderJordi Pijuan, Juan Darío Ortigoza-Escobar, Juan Ortiz, et al.
Plos One|June 1, 2016
Targeted Next Generation Sequencing in Patients with Inborn Errors of MetabolismDèlia Yubero, Núria Brandi, Aida Ormazabal, et al.
Nature Genetics|December 18, 2001
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A diseaseAna Cuesta, Laia Pedrola, Teresa Sevilla, et al.
Research Square|January 13, 2025
Abnormal redox balance at membrane contact sites causes axonopathy in GDAP1-related Charcot-Marie-Tooth diseaseLara Cantarero, Mònica Roldán, María Rodríguez-Sanz, et al.
Scientific Reports|May 11, 2021
Regulatory rare variants of the dopaminergic gene ANKK1 as potential risk factors for Parkinson's diseaseEstela Pérez-Santamarina, Pedro García-Ruiz, Dolores Martínez-Rubio, et al.
Brain : a Journal of Neurology|September 25, 2008
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathyTeresa Sevilla, Teresa Jaijo, Dolores Nauffal, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 15, 2010
Coenzyme Q(10)-responsive ataxia: 2-year-treatment follow-upMerce Pineda, Raquel Montero, Asuncion Aracil, et al.
Neuromuscular Disorders : NMD|February 26, 2017
Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth diseaseTania García-Sobrino, Patricia Blanco-Arias, Francesc Palau, et al.
Frontiers in Molecular Biosciences|May 28, 2021
Decoding Neuromuscular Disorders Using Phenotypic Clusters Obtained From Co-Occurrence NetworksElena Díaz-Santiago, M Gonzalo Claros, Raquel Yahyaoui, et al.
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