Publications by authors named "Niccolo Mencacci"

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Adult-Onset BPAN: An Atypical Presentation Mimicking Early-Onset Parkinson's Disease.
Mariana H G Monje, Padmaja Vittal, Ignacio Juan Keller Sarmiento, Lisa Kinsley, Dimitri Krainc, Niccolò E Mencacci

Mov Disord Clin Pract· December 2025

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Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Niccolò E Mencacci

Ann Neurol· November 2025

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Comprehensive Neuropsychological Assessment of Confirmed Xeroderma Pigmentosum a Variant with Neurological Manifestations: Case Report.
Cheshire Hardcastle, Ignacio J Keller Sarmiento, Niccolò E Mencacci, Kristina Johnson

Arch Clin Neuropsychol· October 2025

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Child Neurology: Ataxia Telangiectasia Presenting With Isolated Chorea and Cutaneous Lesions.
Maria Novelli, Vincenzo Leuzzi, Juan Deliz Gonzalez, Joanna Blackburn, Niccolò Emanuele Mencacci

Neurology· October 2025

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Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
Lara M Lange, Zih-Hua Fang, Laurel Screven, Ai Huey Tan, Roy N Alcalay, Niccolò E Mencacci

Mov Disord· October 2025

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The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.
Sarah M Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A Kamel, Niccolò E Mencacci

Ann Neurol· September 2025

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A STOP-Gain RNF213 Variant Causes Chorea, Stroke-Like Episodes, and Leigh Syndrome-Like Encephalopathy.
Roberta Bovenzi, Mariasavina Severino, Jennifer Nichols, Fred Shen, Ignacio J Keller Sarmiento, Niccolò E Mencacci

Mov Disord· September 2025

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The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.
Lara M Lange, Zih-Hua Fang, Mary B Makarious, Nicole Kuznetsov, Kajsa Atterling Brolin, Niccoló E Mencacci

medRxiv· July 2025

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Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease.
Lara M Lange, Zih-Hua Fang, Laurel Screven, Ai Huey Tan, Roy N Alcalay, Niccolò E Mencacci

medRxiv· July 2025

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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, Lisa Kinsley, Bernabe I Bustos, Niccolò E Mencacci

Mov Disord· June 2025

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Pathogenic variants in Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.
Niccolò E Mencacci, Georgia Minakaki, Reza Maroofian, Raffaella De Pace, Adeline Paimboeuf

medRxiv· May 2025

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Genome-wide assessment identifies novel runs of homozygosity linked to Parkinson's disease etiology across diverse ancestral populations.
Kathryn Step, Carlos F Hernández, Esraa Eltaraifee, Ana Jimena Hernández-Medrano, Pin-Jui Kung, Niccolò E Mencacci

medRxiv· May 2025

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Commander complex regulates lysosomal function and is implicated in Parkinson's disease risk.
Georgia Minakaki, Nathaniel Safren, Bernabe I Bustos, Steven J Lubbe, Niccolò E Mencacci

Science· April 2025

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The LRRK2 p.L1795F variant causes Parkinson's disease in the European population.
Lara M Lange, Kristin Levine, Susan H Fox, Connie Marras, Nazish Ahmed, Niccolo E Mencacci

NPJ Parkinsons Dis· March 2025

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Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale.
Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, Karisha Roopnarain, Maria Leila M Doquenia, Niccolò E Mencacci

Mov Disord· October 2024

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The p.L1795F variant causes Parkinson's disease in the European population.
Lara M Lange, Kristin Levine, Susan H Fox, Connie Marras, Nazish Ahmed, Niccolo E Mencacci

Res Sq· September 2024

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Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
Lola Cook, Jennifer Verbrugge, Tae-Hwi Schwantes-An, Jeanine Schulze, Tatiana Foroud, Niccolò E Mencacci

Brain· August 2024

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De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.
Ignacio J Keller Sarmiento, Bernabe I Bustos, Joanna Blackburn, Nicholas E F Hac, Maura Ruzhnikov, Niccolò E Mencacci

Mov Disord· July 2024

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A GNAI1 Pathogenic Variant in a Case with GNAO1-Isolated Dystonia: A Modifier of Disease Severity?
Mariana H G Monje, Joanna Sarah Blackburn, Lisa Kinsley, Dimitri Krainc, Niccolò E Mencacci

Mov Disord· May 2024

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Childhood-Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report.
Federica Rachele Danti, Ignacio Juan Keller Sarmiento, Patrick B Moloney, Isabel Colangelo, Federica Graziola, Niccolò E Mencacci

Mov Disord· April 2024

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Understanding monogenic Parkinson's disease at a global scale.
Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, Karisha Roopnarain, Maria Leila M Doquenia, Niccolò E Mencacci

medRxiv· April 2024

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Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine.
Elisabetta Indelicato, Sylvia Boesch, Niccolo' E Mencacci, Daniele Ghezzi, Holger Prokisch

Mov Disord· January 2024

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Parkinson's disease-linked parkin mutation disrupts recycling of synaptic vesicles in human dopaminergic neurons.
Pingping Song, Wesley Peng, Veronique Sauve, Rayan Fakih, Zhong Xie, Niccolò E Mencacci

Neuron· December 2023

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The expanding genetic landscape of myoclonus-dystonia syndrome: YY1 and ATP1A3 are added to the list.
Sarah M Brooker, Niccolò E Mencacci

Parkinsonism Relat Disord· December 2023

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Author Correction: Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2).
Lara M Lange, Micol Avenali, Melina Ellis, Anastasia Illarionova, Ignacio J Keller Sarmiento, Niccolo Mencacci

NPJ Parkinsons Dis· September 2023

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