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International Journal of Molecular Sciences|September 28, 2024
Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative ReviewCaterina Micolonghi, Federica Perrone, Marco Fabiani, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 8, 2013
Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigreesAntonio E Elia, Simona Petrucci, Alfonso Fasano, et al.
Frontiers in Neurology|April 4, 2024
Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander diseaseCarmela Romano, Emanuele Morena, Simona Petrucci, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 29, 2014
Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian familiesLucia Ricciardi, Simona Petrucci, Arianna Guidubaldi, et al.
Journal of Neurology|February 13, 2013
Cohort study of prevalence and phenomenology of tremor in dementia with Lewy bodiesMarco Onofrj, Sara Varanese, Laura Bonanni, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|September 11, 2008
Electrical status epilepticus "invisible" to surface EEG in late-onset Rasmussen encephalitisJinane Fattouch, Carlo Di Bonaventura, Giancarlo Di Gennaro, et al.
Biomedicines|July 29, 2023
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer SusceptibilityDaniele Guadagnolo, Gioia Mastromoro, Enrica Marchionni, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|March 23, 2012
Successful subthalamic stimulation, but levodopa-induced dystonia, in a genetic Parkinson's diseaseAlessandro Stefani, Francesco Marzetti, Mariangela Pierantozzi, et al.
Molecular Genetics and Metabolism Reports|March 29, 2021
TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case reportFrancesco Cava, Ernesto Cristiano, Maria Beatrice Musumeci, et al.
Neurobiology of Aging|March 15, 2020
Young-onset and late-onset Parkinson's disease exhibit a different profile of fluid biomarkers and clinical featuresTommaso Schirinzi, Giulia Di Lazzaro, Giulia Maria Sancesario, et al.
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