Daniel Benito-De
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 17 publications
Clinical pattern and evolution of Charcot-Marie-Tooth disease in pediatrics
Journal: Medicina
Published: August 27, 2026
The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: April 21, 2026
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
Congenital myasthenic syndrome: is it time for a name change to genetic myasthenic syndrome?
Journal: Brain : a journal of neurology
Published: April 17, 2025
Congenital myasthenic syndrome: is it time for a name change to genetic myasthenic syndrome?
Journal: Brain : a journal of neurology
Published: April 17, 2025
Inferring disease course from differential exon usage in the wide titinopathy spectrum.
Journal: Annals of clinical and translational neurology
Published: July 23, 2024
A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ.
Journal: Thyroid : official journal of the American Thyroid Association
Published: May 17, 2024
Elementos de datos comunes para la artrogriposis múltiple congénita: Un marco internacional.
Journal: Developmental medicine and child neurology
Published: April 06, 2024
SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1.
Journal: Nature communications
Published: November 24, 2023
Common data elements for arthrogryposis multiplex congenita: An international framework.
Journal: Developmental medicine and child neurology
Published: July 02, 2023
Last Updated: 09/26/2026