Sex-Specific Microglial Responses to Glucocerebrosidase Inhibition: Relevance to GBA1-Linked Parkinson’s Disease

por Brunialti, Electra, Villa, Alessandro, Toffoli, Marco, Lucas Del Pozo, Sara, Rizzi, Nicoletta, Meda, Clara, Maggi, Adriana, Schapira, Anthony H. V., Ciana, Paolo
Publicado 2023

Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease

por Toffoli, Marco, Higgins, Abigail, Lee, Chiao, Koletsi, Sofia, Chen, Xiao, Eberle, Michael, Sedlazeck, Fritz J., Mullin, Stephen, Proukakis, Christos, Schapira, Anthony H.V.
Publicado 2021

Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION

por Leija‐Salazar, Melissa, Sedlazeck, Fritz J., Toffoli, Marco, Mullin, Stephen, Mokretar, Katya, Athanasopoulou, Maria, Donald, Aimee, Sharma, Reena, Hughes, Derralynn, Schapira, Anthony H.V., Proukakis, Christos
Publicado 2019

Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene

por Toffoli, Marco, Chen, Xiao, Sedlazeck, Fritz J., Lee, Chiao-Yin, Mullin, Stephen, Higgins, Abigail, Koletsi, Sofia, Garcia-Segura, Monica Emili, Sammler, Esther, Scholz, Sonja W., Schapira, Anthony H. V., Eberle, Michael A., Proukakis, Christos
Publicado 2022

Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations: A Nonrandomized, Noncontrolled Trial

por Mullin, Stephen, Smith, Laura, Lee, Katherine, D’Souza, Gayle, Woodgate, Philip, Elflein, Josh, Hällqvist, Jenny, Toffoli, Marco, Streeter, Adam, Hosking, Joanne, Heywood, Wendy E., Khengar, Rajeshree, Campbell, Philip, Hehir, Jason, Cable, Sarah, Mills, Kevin, Zetterberg, Henrik, Limousin, Patricia, Libri, Vincenzo, Foltynie, Tom, Schapira, Anthony H. V.
Publicado 2020

GBA variants in REM sleep behavior disorder: A multicenter study

por Krohn, Lynne, Ruskey, Jennifer A., Rudakou, Uladzislau, Leveille, Etienne, Asayesh, Farnaz, Hu, Michele T.M., Arnulf, Isabelle, Dauvilliers, Yves, Högl, Birgit, Stefani, Ambra, Monaca, Christelle Charley, Abril, Beatriz, Plazzi, Giuseppe, Antelmi, Elena, Ferini-Strambi, Luigi, Heidbreder, Anna, Boeve, Bradley F., Espay, Alberto J., De Cock, Valérie Cochen, Mollenhauer, Brit, Sixel-Döring, Friederike, Trenkwalder, Claudia, Sonka, Karel, Kemlink, David, Figorilli, Michela, Puligheddu, Monica, Dijkstra, Femke, Viaene, Mineke, Oertel, Wolfgang, Toffoli, Marco, Gigli, Gian Luigi, Valente, Mariarosaria, Gagnon, Jean-François, Desautels, Alex, Montplaisir, Jacques Y., Postuma, Ronald B., Rouleau, Guy A., Gan-Or, Ziv
Publicado 2020