Ignacio Juan Keller Sarmiento

9PUBLICATIONS
79CO-AUTHORS
GenomicsBiogeography and phylogeographyCentral nervous systemGene mappingNeurology and neuromuscular diseases
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Publications (9)

|Jul 03, 2026
Repeat expansions in Parkinson's disease and parkinsonism across ancestries: insights from a global genetic cohort.

|Mar 11, 2026
Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology.

Kathryn Step, Carlos F Hernández, Marzieh Khani

|Sep 26, 2025
A STOP-Gain RNF213 Variant Causes Chorea, Stroke-Like Episodes, and Leigh Syndrome-Like Encephalopathy.

Roberta Bovenzi, Mariasavina Severino, Jennifer Nichols

|Jul 17, 2025
Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease.

Lara M Lange, Zih-Hua Fang, Laurel Screven

|Mar 29, 2025
Novel In-Frame FGF14 Deletion Causes Spinocerebellar Ataxia Type 27A: Clinical Response to Deep Brain Stimulation and 4-Aminopyridine.

Ignacio J Keller Sarmiento, Roberta Bovenzi, Morgan Kinsinger

|Apr 05, 2024
De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.

Ignacio J Keller Sarmiento, Bernabe I Bustos, Joanna Blackburn

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Frequent Collaborators

6 joint publications

Zih-Hua Fang

6 joint publications

Niccolò E Mencacci

5 joint publications

Lara M Lange

5 joint publications

Ai-Huey Tan