Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations

by Yue T. K. Yuen, Ilaria Guella, Elke Roland, Michael Sargent, Cyrus Boelman
Published 2019-05-01

p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder

by Silke Appel-Cresswell, Ilaria Guella, Anna Lehman, Dean Foti, Matthew J. Farrer
Published 2018-01-01

Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population

by Ilaria Guella, Rosanna Asselta, Diego Ardissino, Pier Angelica Merlini, Flora Peyvandi, Sekar Kathiresan, Pier Mannuccio Mannucci, Marco Tubaro, Stefano Duga
Published 2010-11-01

A Meta-Analysis of α-Synuclein Multiplication in Familial Parkinsonism

by Adam Book, Ilaria Guella, Tara Candido, Alexis Brice, Nobutaka Hattori, Beomseok Jeon, Matthew J. Farrer, SNCA Multiplication Investigators of the GEoPD Consortium
Published 2018-12-01

Hunting for Familial Parkinson’s Disease Mutations in the Post Genome Era

by Steven R. Bentley, Ilaria Guella, Holly E. Sherman, Hannah M. Neuendorf, Alex M. Sykes, Javed Y. Fowdar, Peter A. Silburn, Stephen A. Wood, Matthew J. Farrer, George D. Mellick
Published 2021-03-01

Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy

by Yun-Fei Bai, Michelle Chiu, Elizabeth S. Chan, Peter Axerio-Cilies, Jie Lu, Linda Huh, Mary B. Connolly, Ilaria Guella, Matthew J. Farrer, Zhi-Qing David Xu, Lidong Liu, Michelle Demos, Yu Tian Wang
Published 2019-11-01

Correction to: Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy

by Yun-Fei Bai, Michelle Chiu, Elizabeth S. Chan, Peter Axerio-Cilies, Jie Lu, Linda Huh, Mary B. Connolly, Ilaria Guella, Matthew J. Farrer, Zhi-Qing David Xu, Lidong Liu, Michelle Demos, Yu Tian Wang
Published 2020-03-01

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

by Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Sarah E. Buerki, Daniel M. Evans, Eric B. Toyota, Cyrus Boelman, Linda L. Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H. Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Patrice Eydoux, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Tanya N. Nelson, Corneliu Bolbocean, Corneliu Bolbocean, Mary B. Connolly, Matthew J. Farrer
Published 2019-05-01