Publications by authors named "Marco Toffoli"

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Mitochondrial function is impaired in long COVID patients.
Jane Macnaughtan, Kai-Yin Chau, Ewen Brennan, Marco Toffoli, Antonella Spinazzola

Ann Med· December 2025

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Single cell long read whole genome sequencing reveals somatic transposon activity in human brain.
Michal B Izydorczyk, Ester Kalef-Ezra, Dominic W Horner, Xinchang Zheng, Nadine Holmes, Marco Toffoli

Commun Biol· November 2025

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Severe GBA1 variants drive the GBA1-PD clinical phenotype: implications for counselling and clinical trials.
Elisa Menozzi, Sara Lucas Del Pozo, Jane Macnaughtan, Roxana Mezabrovschi, Sofia Koletsi, Marco Toffoli

NPJ Parkinsons Dis· October 2025

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Reply to: Is Gauchian genotyping of GBA1 variants reliable?
Marco Toffoli, Anthony H V Schapira, Fritz J Sedlazeck, Christos Proukakis

Commun Biol· May 2025

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Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease.
Sophia R L Vieira, Roxana Mezabrovschi, Marco Toffoli, Sara Lucas Del Pozo, Elisa Menozzi

Mov Disord· December 2024

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Single cell long read whole genome sequencing reveals somatic transposon activity in human brain.
Michal B Izydorczyk, Ester Kalef-Ezra, Dominic W Horner, Xinchang Zheng, Nadine Holmes, Marco Toffoli

medRxiv· November 2024

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Sex Distribution of GBA1 Variants Carriers with Dementia with Lewy Bodies and Parkinson's Disease.
Marco Toffoli, Anthony H V Schapira, Christos Proukakis

Mov Disord· November 2023

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Phenotypic effect of GBA1 variants in individuals with and without Parkinson's disease: The RAPSODI study.
Marco Toffoli, Harneek Chohan, Stephen Mullin, Aaron Jesuthasan, Selen Yalkic

Neurobiol Dis· November 2023

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Targeting the GBA1 pathway to slow Parkinson disease: Insights into clinical aspects, pathogenic mechanisms and new therapeutic avenues.
Elisa Menozzi, Marco Toffoli, Anthony H V Schapira

Pharmacol Ther· June 2023

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Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease.
Cornelis Blauwendraat, Nahid Tayebi, Elizabeth Geena Woo, Grisel Lopez, Luca Fierro, Marco Toffoli

Mov Disord· May 2023

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Sex-Specific Microglial Responses to Glucocerebrosidase Inhibition: Relevance to GBA1-Linked Parkinson's Disease.
Electra Brunialti, Alessandro Villa, Marco Toffoli, Sara Lucas Del Pozo, Nicoletta Rizzi

Cells· January 2023

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Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson's disease-associated GBA gene.
Marco Toffoli, Xiao Chen, Fritz J Sedlazeck, Chiao-Yin Lee, Stephen Mullin

Commun Biol· July 2022

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The remote assessment of parkinsonism supporting the ongoing development of interventions in Gaucher disease.
Abigail Louise Higgins, Marco Toffoli, Stephen Mullin, Chiao-Yin Lee, Sofia Koletsi

Neurodegener Dis Manag· December 2021

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Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease.
Marco Toffoli, Abigail Higgins, Chiao Lee, Sofia Koletsi, Xiao Chen

Mov Disord· June 2021

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SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder.
Uladzislau Rudakou, Naomi C Futhey, Lynne Krohn, Jennifer A Ruskey, Karl Heilbron, Marco Toffoli

Neurobiol Aging· September 2020

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variants in REM sleep behavior disorder: A multicenter study.
Lynne Krohn, Jennifer A Ruskey, Uladzislau Rudakou, Etienne Leveille, Farnaz Asayesh, Marco Toffoli

Neurology· August 2020

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The biochemical basis of interactions between Glucocerebrosidase and alpha-synuclein in GBA1 mutation carriers.
Marco Toffoli, Laura Smith, Anthony H V Schapira

J Neurochem· July 2020

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Biofluid Biomarkers in Parkinson's Disease: Clarity Amid Controversy.
Sophia R L Vieira, Marco Toffoli, Philip Campbell, Anthony H V Schapira

Mov Disord· July 2020

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Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations: A Nonrandomized, Noncontrolled Trial.
Stephen Mullin, Laura Smith, Katherine Lee, Gayle D'Souza, Philip Woodgate, Marco Toffoli

JAMA Neurol· April 2020

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Fine-Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies.
Lynne Krohn, Richard Y J Wu, Karl Heilbron, Jennifer A Ruskey, Sandra B Laurent, Marco Toffoli

Ann Neurol· April 2020

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Evolution of prodromal parkinsonian features in a cohort of mutation-positive individuals: a 6-year longitudinal study.
Micol Avenali, Marco Toffoli, Stephen Mullin, Alisdair McNeil, Derralynn A Hughes

J Neurol Neurosurg Psychiatry· October 2019

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Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION.
Melissa Leija-Salazar, Fritz J Sedlazeck, Marco Toffoli, Stephen Mullin, Katya Mokretar

Mol Genet Genomic Med· March 2019

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