Carlos I. Ortez
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 97 publications
Clinical pattern and evolution of Charcot-Marie-Tooth disease in pediatrics
Journal: Medicina
Published: August 27, 2026
Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G.
Journal: Journal of neuromuscular diseases
Published: July 28, 2026
Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.
Journal: Brain : a journal of neurology
Published: February 10, 2026
Management of Duchenne Muscular Dystrophy in Clinical Practice: A Survey-Based Study in Spain.
Journal: Neurology and therapy
Published: December 30, 2025
Neuromuscular diseases in pediatrics with specific treatments
Journal: Medicina
Published: October 02, 2025
Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 04, 2025
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.
Journal: Annals of clinical and translational neurology
Published: May 15, 2025
Natural history of patients with nonsense mutation Duchenne muscular dystrophy treated with ataluren in Spain.
Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: April 08, 2025
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.
Journal: Annals of neurology
Published: April 01, 2025
Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies.
Journal: Journal of neurology
Published: March 06, 2025
Last Updated: 09/26/2026