Marcia G. Pimentel

Rio De Janeiro, RJ, Brazil

Last Updated: 09/26/2026

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Found 27 publications

Plasma and urinary metabolomic signatures differentiate genetic and idiopathic Parkinson's disease.

Plasma and urinary metabolomic signatures differentiate genetic and idiopathic Parkinson's disease.

Journal: Brain research

Published: March 11, 2025

Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project.

Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project.

Journal: PloS one

Published: January 27, 2023

Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.

Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: April 22, 2022

A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings.

A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings.

Journal: European journal of medical genetics

Published: April 08, 2022

A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation.

A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation.

Journal: Metabolic brain disease

Published: April 01, 2022

Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.

Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.

Journal: European journal of medical genetics

Published: March 11, 2021

Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing.

Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing.

Journal: Molecular neurobiology

Published: March 20, 2020

Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion.

Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion.

Journal: Frontiers in genetics

Published: July 31, 2019

Network Profiling of Brain-Expressed X-Chromosomal MicroRNA Genes Implicates Shared Key MicroRNAs in Intellectual Disability.

Network Profiling of Brain-Expressed X-Chromosomal MicroRNA Genes Implicates Shared Key MicroRNAs in Intellectual Disability.

Journal: Journal of molecular neuroscience : MN

Published: October 23, 2018

CHCHD2 mutational screening in Brazilian patients with familial Parkinson's disease.

CHCHD2 mutational screening in Brazilian patients with familial Parkinson's disease.

Journal: Neurobiology of aging

Published: May 21, 2018

Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease.

Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease.

Journal: Journal of the neurological sciences

Published: April 04, 2017

Autosomal dominant Parkinson's disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil.

Autosomal dominant Parkinson's disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil.

Journal: Neuroscience letters

Published: August 15, 2016

Showing 1-12 of 27

Last Updated: 09/26/2026