Ignacio J. Keller-Sarmiento

Neurology
259 E Erie St Ste 1900
Lavin Family Pavilion
Chicago, IL 60611

Last Updated: 09/26/2026

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Found 22 publications

Repeat expansions in Parkinson's disease and parkinsonism across ancestries: insights from a global genetic cohort.

Repeat expansions in Parkinson's disease and parkinsonism across ancestries: insights from a global genetic cohort.

Journal: medRxiv : the preprint server for health sciences
Published: July 03, 2026

Pearls & Oy-sters: SCA27B as an Elusive Genetic Cause of Episodic Neurologic Symptoms in Later Adulthood.

Pearls & Oy-sters: SCA27B as an Elusive Genetic Cause of Episodic Neurologic Symptoms in Later Adulthood.

Journal: Neurology
Published: February 16, 2026

A STOP-Gain RNF213 Variant Causes Chorea, Stroke-Like Episodes, and Leigh Syndrome-Like Encephalopathy.

A STOP-Gain RNF213 Variant Causes Chorea, Stroke-Like Episodes, and Leigh Syndrome-Like Encephalopathy.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: September 16, 2025

Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease.

Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease.

Journal: medRxiv : the preprint server for health sciences
Published: July 17, 2025

Genome-wide assessment identifies novel runs of homozygosity linked to Parkinson's disease etiology across diverse ancestral populations.

Genome-wide assessment identifies novel runs of homozygosity linked to Parkinson's disease etiology across diverse ancestral populations.

Journal: medRxiv : the preprint server for health sciences
Published: June 06, 2025

Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology.

Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: March 27, 2025

Adult-Onset BPAN: An Atypical Presentation Mimicking Early-Onset Parkinson's Disease.

Adult-Onset BPAN: An Atypical Presentation Mimicking Early-Onset Parkinson's Disease.

Journal: Movement disorders clinical practice
Published: March 14, 2025

Novel In-Frame FGF14 Deletion Causes Spinocerebellar Ataxia Type 27A: Clinical Response to Deep Brain Stimulation and 4-Aminopyridine.

Novel In-Frame FGF14 Deletion Causes Spinocerebellar Ataxia Type 27A: Clinical Response to Deep Brain Stimulation and 4-Aminopyridine.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: February 05, 2025

Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale.

Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: April 10, 2024

Understanding monogenic Parkinson's disease at a global scale.

Understanding monogenic Parkinson's disease at a global scale.

Journal: medRxiv : the preprint server for health sciences
Published: March 26, 2024

De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.

De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: November 05, 2023

Author Correction: Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2).

Author Correction: Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2).

Journal: NPJ Parkinson's disease
Published: September 13, 2023
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Last Updated: 09/26/2026