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Human Molecular Genetics|February 27, 2019
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variantsCarmela Fusco, Grazia Nardella, Rita Fischetto, et al.
Brain : a Journal of Neurology|October 8, 2020
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonismMax Borsche, Inke R König, Sylvie Delcambre, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|October 3, 2022
Diagnostic and therapeutic recommendations in adult dystonia: a joint document by the Italian Society of Neurology, the Italian Academy for the Study of Parkinson's Disease and Movement Disorders, and the Italian Network on Botulinum ToxinMarcello Romano, Sergio Bagnato, Maria Concetta Altavista, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 14, 2020
GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian CohortSimona Petrucci, Monia Ginevrino, Ilaria Trezzi, et al.
European Journal of Human Genetics : EJHG|May 31, 2025
MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patientsMarco Fabiani, Caterina Micolonghi, Silvia Caroselli, et al.
Neurology|October 19, 2014
Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson diseaseJessie Theuns, Aline Verstraeten, Kristel Sleegers, et al.
Neurobiology of Aging|August 22, 2013
Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variantsMichael G Heckman, Alexis Elbaz, Alexandra I Soto-Ortolaza, et al.
American Journal of Human Genetics|August 27, 2019
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature AgingElisabetta Flex, Simone Martinelli, Anke Van Dijck, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 6, 2013
Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) ConsortiumMichael G Heckman, Alexandra I Soto-Ortolaza, Jan O Aasly, et al.
NPJ Parkinson'S Disease|May 28, 2026
Genetic variation in antidiabetic drug targets: associations with Parkinson's disease risk and age at onsetKatalin Vincze, Agnieszka Szwajda, Alexander Ploner, et al.
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