Results 181 to 190 of about 3,185 (196)

Sex distribution and classification of GBA1 variants in an Italian cohort of Parkinson's disease patients analyzed over the last seventeen years

Parkinsonism and Related Disorders, 2023
Celeste Panteghini, Alessia Catania, Barbara Garavaglia   +2 more
exaly  

A Role for Parkinson's-Linked LRRK2, SNCA, and GBA1 Genes in Modulating the Course of Disease Due to RNA Virus Infections

Parkinson's disease (PD) is a complex motor neurodegenerative disorder with heterogenous disease pathology and symptomatology. We and others believe PD to be a complex disease, requiring a combination of genetic susceptibility, sex, ageing, and environmental trigger(s) for disease initiation.
openaire   +1 more source

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene

Frontiers in Pediatrics, 2023
Pan Hong
exaly  

Lysosome and Inflammatory Defects in GBA1‐Mutant Astrocytes Are Normalized by LRRK2 Inhibition

Movement Disorders, 2020
Jianjun Chang, Nathalie A Lengacher, Julianna J Tomlinson   +2 more
exaly  

Contrasting olfactory perception in Parkinson disease: Impact of GBA1 gene mutations

Molecular Genetics and Metabolism
Yosef Shechter, Mikhal Cohen, Gilad Yahalom, Shoshana Revel-Vilk, Elena Shulman, Melania Dominko, Tama Dinur, Michal Becker-Cohen   +7 more
openaire   +1 more source

Methylomic and whole transcriptome analyses reveal several potential modifier genes in GBA1-associated Parkinson disease

Molecular Genetics and Metabolism, 2019
Eric Joshua Garcia, Frank Donovan, Abdel Elkahloun, Barbara Stubblefield, Alta Steward, Sampath Arepalli, Settara Chandrasekharappa, Dena Hernandez, Grisel Lopez, Ellen Sidransky, Nahid Tayebi   +10 more
openaire   +1 more source

Small Molecule Chaperones for the Treatment of Gaucher Disease and GBA1-Associated Parkinson Disease

Frontiers in Cell and Developmental Biology, 2020
Richard Sam, Ellen Sidransky, Sidransky Ellen   +2 more
exaly  

Design of Phase 1/2a Study of AAV9-Based Gene Therapy for Parkinson’s Disease with Pathogenic GBA1 Mutations (PROPEL Trial) (1624)

Neurology, 2020
Olga Uspenskaya, Erin Mahoney, Lynne Verselis, Mark Lowrey, Jenny Velaga, Jeffrey Sevigny   +5 more
openaire   +1 more source

GBA1-Associated Parkinson’s Disease Is a Distinct Entity

International Journal of Molecular Sciences
Majdolen Istaiti, Volha Skrahina, Jan Lukas   +2 more
exaly  

Classification and Genotype–Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review

Movement Disorders
Susen Schaake, Malco Rossi, Björn-Hergen Laabs   +2 more
exaly