Results 91 to 100 of about 4,639 (191)

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

Movement Disorders Clinical Practice, Volume 13, Issue 10, Page 2379-2394, October 2026.
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini, Luca Gallo, Arianna Sala, Enza Maria Valente, Micol Avenali, Silvia Paola Caminiti   +5 more
wiley   +1 more source

Genetic Testing in Movement Disorders: Riding the Wave Without Being Swept Under

Movement Disorders, EarlyView.
Alessio Di Fonzo, Francesca Magrinelli
wiley   +1 more source

Artificial intelligence predicts GBA1 mutated status in Parkinson’s Disease patients [PDF]

Background: GBA1 variants are the major genetic risk factor for Parkinson’s Disease (PD) and account for 5–30% of PD cases depending on the population and age at onset of the disease.
Francesca Pacillo, Edoardo Monfrini, Anna Groppi, Maurizio Gabbrielli, Augusto Scaglioni, Rossella Sabadini, Luca Gherardini, Valeria Ferrari, Jefri J. Paul, Ruggero Bacchin, Peter Bauer, Sara Grisanti, Giacomo Argenziano, Isabella Campanini, Alessio Di Fonzo, Andrea Castellucci, Alessandro Ghibellini, Chiara Lucchi, Giulia Di Rauso, Valentina Fioravanti, Andrea Melpignano, Giacomo Portaro, Maria Chiara Malaguti, Andrea Merlo, Giuseppe Biagini, Angelo Ghidini, Giulia Toschi, Maria Scarano, Sara Montepietra, Luciano Bononi, Alessandro Fraternali, Annibale Versari, Francesco Cavallieri, Jessica Rossi, Franco Valzania, Ghidini, Angelo, Di Rauso, Giulia, Merlo, Andrea, Scaglioni, Augusto, Toschi, Giulia, Grisanti, Sara, Melpignano, Andrea, Monfrini, Edoardo, Scarano, Maria, Montepietra, Sara, Gherardini, Luca, Fraternali, Alessandro, Ferrari, Valeria, Castellucci, Andrea, Sabadini, Rossella, Biagini, Giuseppe, Lucchi, Chiara, Bononi, Luciano, Paul, Jefri J., Versari, Annibale, Cavallieri, Francesco, Argenziano, Giacomo, Groppi, Anna, Di Fonzo, Alessio, Ghibellini, Alessandro, Portaro, Giacomo, Campanini, Isabella, Pacillo, Francesca, Rossi, Jessica, Malaguti, Maria Chiara, Fioravanti, Valentina, Bauer, Peter, Bacchin, Ruggero, Valzania, Franco, Gabbrielli, Maurizio   +69 more
core   +1 more source

Generation and characterization of 5 induced pluripotent stem cell (iPSC) lines from Parkinson’s disease patients carrying GBA1 variants

Stem Cell Research
Parkinson’s disease (PD) patients carrying variants in GBA1 exhibit distinct phenotypic characteristics of disease, including earlier age at onset, faster motor decline and higher frequency of cognitive decline.
Inigo Yoldi Bergua, Ibrahim Boussaad, Elizabet Petkovski, Zied Landoulsi, Rejko Krüger, Giuseppe Arena   +5 more
doaj   +1 more source

Male sex accelerates cognitive decline in GBA1 Parkinson’s disease

npj Parkinson's Disease
Abstract We evaluated 128 GBA and 432 nonGBA Parkinson’s disease (PD) subjects. Baseline clinical features and dopaminergic activity were assessed, together with 7-year clinical follow-up. Survival analyses assessed the independent and interactive effects of male sex and GBA1 mutations on cognitive impairment.
Silvia Paola Caminiti, Micol Avenali, Alice Galli, Rachele Malito, Giada Cuconato, Caterina Galandra, Rosaria Calabrese, Andrea Pilotto, Alessandro Padovani, Fabio Blandini, Daniela Perani, Cristina Tassorelli, Enza Maria Valente   +12 more
openaire   +4 more sources

GBA1 MUTATIONS ALTER NEURONAL FUNCTION AND STRUCTURE OF iPSC-DERIVED NEURONS FROM PARKINSON¿S DISEASE PATIENTS.

, 2023
Comunicación presentada a Global Summit on Neurodegenerative Diseases NEURO 2020/2022Mutations in the glucocerebrosidase1 (GBA1) gene are major risk factors for Parkinson¿s disease (PD) and dementia with Lewy bodies.
Rodríguez-Traver, Eva, Suárez, Luz M., González-Burgos, I., Díaz-Guerra, Eva, Vicario-Abejón, Carlos, Moratalla, Rosario, Crespo, Carlos, Jurado-Coronel, Juan C.   +7 more
core  

Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease [PDF]

Movement Disorders Clinical Practice, 2020
Jonas M. den Heijer, Jacobus J. van Hilten, Anneke J.A. Kievit, Vincenzo Bonifati, Geert Jan Groeneveld   +4 more
openaire   +4 more sources

The genetic architecture of Parkinson’s disease on the Island of Crete

npj Parkinson's Disease
We investigated the genetic landscape of Parkinson’s disease (PD) on the island of Crete. DNA samples from 360 PD patients and 251 controls were analyzed using a combination of genotyping, whole-exome sequencing, and targeted screening for GBA1 variants ...
Iro Boura, Shaimaa Sait, Nikolaos M. Marinakis, Kumar Arvind, Ruth Chia, Anindita Ray, Giannis Vatsellas, Theodoros Loupis, Vasiliki Pavlaki, Periklis Makrythanasis, Panayiotis Mitsias, Georgia Xiromerisiou, Sonja W. Scholz, Cleanthe Spanaki   +13 more
doaj   +1 more source

PREDICT‐PD: A Two‐Stage Approach to Early Identification of Parkinson's Disease

Movement Disorders Clinical Practice, Volume 13, Issue 10, Page 2421-2427, October 2026.
Sasivimol Virameteekul, Sheena Waters, Brook Huxford, Ashvin Kuri, Manuela Tan, Laura Pérez‐Carbonell, Eduardo de Pablo‐Fernández, Anette Schrag, Alastair J. Noyce, Cristina Simonet   +9 more
wiley   +1 more source

Dual-Risk axis: mutations and occupational pesticide exposure in Parkinson's disease

Journal of Parkinson’s Disease
Background Occupational pesticide (OcP) exposure and pathogenic GBA1 variants are established risk factors for Parkinson's disease (PD). However, whether they interact to influence disease onset or severity remains uncertain.
Zeynep Hilal Üstündağ, Hazal Özçelik, Ipek Koker, Pınar Özkan, İrem Kar, Buse Elitas Ozmutlu, Elif İpek Gençer Mutlu, Gunal Damla Yildiz, Merve Koç Yekedüz, Fatma Tuba Eminoğlu, M Cenk Akbostancı, Rezzak Yilmaz   +11 more
doaj   +1 more source