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Orphanet Journal of Rare Diseases|April 27, 2021
A multi-stakeholder multicriteria decision analysis for the reimbursement of orphan drugs (FinMHU-MCDA study)Fernando de Andrés-Nogales, Encarnación Cruz, Miguel Ángel Calleja, et al.Neurobiology of Disease|April 2, 2013
Silencing of the Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entryDavid Pla-Martín, Carlos B Rueda, Anna Estela, et al.Brain : a Journal of Neurology|October 27, 2015
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth diseaseTeresa Sevilla, Vincenzo Lupo, Dolores Martínez-Rubio, et al.Journal of the Neurological Sciences|May 9, 2006
Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementationRafael Artuch, Gloria Brea-Calvo, Paz Briones, et al.Plos Genetics|April 11, 2015
Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathyManuela Barneo-Muñoz, Paula Juárez, Azahara Civera-Tregón, et al.Annals of Clinical and Translational Neurology|January 18, 2023
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variantsDaniel Natera-de Benito, Jonathan Olival, Carla Garcia-Cabau, et al.American Journal of Medical Genetics. Part A|September 15, 2019
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup diseaseNishitha R Pillai, Delia Yubero, Brian J Shayota, et al.Plos One|June 3, 2017
Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patientsBeatriz Soldevilla, Carmen Cuevas-Martín, Clara Ibáñez, et al.Human Molecular Genetics|July 18, 2021
Effective therapeutic strategies in a preclinical mouse model of Charcot-Marie-Tooth diseaseCristina Nuevo-Tapioles, Fulvio Santacatterina, Brenda Sánchez-Garrido, et al.Gut Microbes|April 20, 2018
Increased prevalence of pathogenic bacteria in the gut microbiota of infants at risk of developing celiac disease: The PROFICEL studyMarta Olivares, Alfonso Benítez-Páez, Giada de Palma, et al.Pageof 12