Daniel De Benito-Natera

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 78 publications

Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G.

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

IMU-based workspace area as a promising complementary tool to assess upper limb function in Neuromuscular diseases: A one-year follow-up.

IMU-based workspace area as a promising complementary tool to assess upper limb function in Neuromuscular diseases: A one-year follow-up.

Journal: Journal of neuromuscular diseases

Published: July 06, 2026

Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.

Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.

Journal: Brain : a journal of neurology

Published: February 10, 2026

Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Journal: Nature genetics

Published: January 06, 2026

Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project.

Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project.

Journal: Journal of neuromuscular diseases

Published: July 29, 2025

Gross motor functional classification for arthrogryposis multiplex congenita: protocol for co-development involving public with lived and professional experience.

Gross motor functional classification for arthrogryposis multiplex congenita: protocol for co-development involving public with lived and professional experience.

Journal: Research involvement and engagement

Published: July 05, 2025

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.

Journal: Annals of clinical and translational neurology

Published: May 15, 2025

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Journal: Nature genetics

Published: April 11, 2025

Natural history of patients with nonsense mutation Duchenne muscular dystrophy treated with ataluren in Spain.

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.

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.

Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies.

Journal: Journal of neurology

Published: March 06, 2025

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.

Journal: Annals of clinical and translational neurology

Published: February 24, 2025

Showing 1-12 of 78

Last Updated: 09/26/2026