Niccolo E. Mencacci

Neurology

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

Last Updated: 09/26/2026

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Found 117 publications

GCH1 p.Ser80Asn Confers Risk for Parkinson's Disease in East Asian Populations.

GCH1 p.Ser80Asn Confers Risk for Parkinson's Disease in East Asian Populations.

Journal: medRxiv : the preprint server for health sciences

Published: July 03, 2026

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

GCH1 p.Ser80Asn Confers Risk for Parkinson's Disease in East Asian Populations.

GCH1 p.Ser80Asn Confers Risk for Parkinson's Disease in East Asian Populations.

Journal: medRxiv : the preprint server for health sciences

Published: July 03, 2026

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

PD GENEration: An International Parkinson's Disease Genetic Research Study.

PD GENEration: An International Parkinson's Disease Genetic Research Study.

Journal: medRxiv : the preprint server for health sciences

Published: June 04, 2026

Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental features.

Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental features.

Journal: EBioMedicine

Published: March 17, 2026

Is SORL1 a common genetic target across neurodegenerative diseases? A multi-ancestry biobank study.

Is SORL1 a common genetic target across neurodegenerative diseases? A multi-ancestry biobank study.

Journal: Brain : a journal of neurology

Published: February 27, 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

Is SORL1 a common genetic target across neurodegenerative diseases?: A multi-ancestry biobank scale assessment.

Is SORL1 a common genetic target across neurodegenerative diseases?: A multi-ancestry biobank scale assessment.

Journal: medRxiv : the preprint server for health sciences

Published: February 06, 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

Child Neurology: Ataxia Telangiectasia Presenting With Isolated Chorea and Cutaneous Lesions.

Child Neurology: Ataxia Telangiectasia Presenting With Isolated Chorea and Cutaneous Lesions.

Journal: Neurology

Published: September 11, 2025

The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.

The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.

Journal: medRxiv : the preprint server for health sciences

Published: July 17, 2025

Showing 1-12 of 117

Last Updated: 09/26/2026