Jon F. Infante

Santander, CB, Spain

Last Updated: 09/26/2026

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Found 116 publications

A novel GNAO1 variant associated with variable and mild phenotypes in a Spanish family.

A novel GNAO1 variant associated with variable and mild phenotypes in a Spanish family.

Journal: Journal of movement disorders

Published: April 07, 2026

A Novel GNAO1 Variant Associated With Variable and Mild Phenotypes in a Spanish Family.

A Novel GNAO1 Variant Associated With Variable and Mild Phenotypes in a Spanish Family.

Journal: Journal of movement disorders

Published: April 07, 2026

Parkinson's disease-subjective cognitive decline and health-related quality of life.

Parkinson's disease-subjective cognitive decline and health-related quality of life.

Journal: Journal of neural transmission (Vienna, Austria : 1996)

Published: February 23, 2026

Longitudinal analysis shows GAA1 length and baseline clinical status as robust predictors of progression in Friedreich ataxia.

Longitudinal analysis shows GAA1 length and baseline clinical status as robust predictors of progression in Friedreich ataxia.

Journal: Journal of neurology

Published: December 17, 2025

Cognitive impairment in SCA3: A multi-center cohort study with demographic, imaging, and biomarker correlates.

Cognitive impairment in SCA3: A multi-center cohort study with demographic, imaging, and biomarker correlates.

Journal: Neurobiology of disease

Published: November 05, 2025

Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment.

Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment.

Journal: EBioMedicine

Published: June 30, 2025

Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis.

Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis.

Journal: Acta neuropathologica communications

Published: June 24, 2025

The Medication Patterns of Spinocerebellar Ataxia Type 3 Mutation Carriers Enrolled in the ESMI Cohort.

The Medication Patterns of Spinocerebellar Ataxia Type 3 Mutation Carriers Enrolled in the ESMI Cohort.

Journal: CNS drugs

Published: April 26, 2025

Comment on "Spectrum disorder of RFC1 expansions/CANVAS: Clinical and electrophysiological characterization of a group of 31 patients".

Comment on "Spectrum disorder of RFC1 expansions/CANVAS: Clinical and electrophysiological characterization of a group of 31 patients".

Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology

Published: March 02, 2025

Progression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohort.

Progression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohort.

Journal: medRxiv : the preprint server for health sciences

Published: February 20, 2025

Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohort.

Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohort.

Journal: The Lancet regional health. Europe

Published: February 01, 2025

Classic Guillain-Barré syndrome.

Classic Guillain-Barré syndrome.

Journal: Medicina clinica

Published: December 13, 2024

Showing 1-12 of 116

Last Updated: 09/26/2026