David Andres-Gomez
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 66 publications
Neurodevelopmental brainstem syndromes.
Journal: Handbook of clinical neurology
Published: March 27, 2026
NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: March 27, 2026
Visual mapping of muscle MRI fatty replacement patterns in genetic myopathies using dimensionality reduction.
Journal: Neuromuscular disorders : NMD
Published: March 04, 2026
285th ENMC international workshop: SMN-associated neurodevelopmental disorder: type 1 spinal muscular atrophy and the brain, 31st January - 2nd February 2025, Hoofddorp, The Netherlands.
Journal: Neuromuscular disorders : NMD
Published: December 02, 2025
Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 01, 2025
Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 01, 2025
Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B -Related Marbach-Schaaf Neurodevelopmental Syndrome: A Case Series.
Journal: Clinical genetics
Published: August 27, 2025
Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies.
Journal: Annals of clinical and translational neurology
Published: August 22, 2025
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
Biallelic SUPT4H1 variants cause a multisystem neurodevelopmental disorder associated with disrupted transcription.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 15, 2025
Entropy, Irreversibility, and Time-Series Deep Learning of Kinematic and Kinetic Data for Gait Classification in Children with Cerebral Palsy, Idiopathic Toe Walking, and Hereditary Spastic Paraplegia.
Journal: Sensors (Basel, Switzerland)
Published: May 23, 2025
Last Updated: 09/26/2026