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Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal … L Mosca, C Lunetta, C Tarlarini, F Avemaria, E Maestri, M Melazzini, ... Neurobiology of aging 33 (8), 1846. e1-1846. e4, 2012 | 56 | 2012 |
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ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis S Lattante, MG Pomponi, A Conte, G Marangi, G Bisogni, AK Patanella, ... Neurobiology of aging 64, 157. e1-157. e5, 2018 | 50 | 2018 |
Increase in DNA methylation in patients with amyotrophic lateral sclerosis carriers of not fully penetrant SOD1 mutations F Coppedè, A Stoccoro, L Mosca, R Gallo, C Tarlarini, C Lunetta, ... Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 19 (1-2), 93-101, 2018 | 50 | 2018 |
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TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation L Pozzi, F Valenza, L Mosca, A Dal Mas, T Domi, A Romano, C Tarlarini, ... Journal of Neurology, Neurosurgery & Psychiatry 88 (10), 869-875, 2017 | 47 | 2017 |
Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression F Avemaria, C Lunetta, C Tarlarini, L Mosca, E Maestri, A Marocchi, ... Amyotrophic Lateral Sclerosis 12 (3), 228-230, 2011 | 42 | 2011 |
Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4 L Campisi, S Chizari, JSY Ho, A Gromova, FJ Arnold, L Mosca, X Mei, ... Nature 606 (7916), 945-952, 2022 | 41 | 2022 |
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Reduced mitochondrial D-loop methylation levels in sporadic amyotrophic lateral sclerosis A Stoccoro, AR Smith, L Mosca, A Marocchi, F Gerardi, C Lunetta, ... Clinical Epigenetics 12, 1-13, 2020 | 36 | 2020 |
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry G Borghero, M Pugliatti, F Marrosu, MG Marrosu, MR Murru, G Floris, ... Neurobiology of aging 36 (10), 2906. e1-2906. e5, 2015 | 34 | 2015 |
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Novel FUS mutations identified through molecular screening in a large cohort of familial and sporadic amyotrophic lateral sclerosis C Tarlarini, C Lunetta, L Mosca, F Avemaria, N Riva, V Mantero, E Maestri, ... European journal of neurology 22 (11), 1474-1481, 2015 | 32 | 2015 |
Phenotypic Heterogeneity in a SOD1 G93D Italian ALS Family: An Example of Human Model to Study a Complex Disease S Penco, C Lunetta, L Mosca, E Maestri, F Avemaria, C Tarlarini, ... Journal of Molecular Neuroscience 44, 25-30, 2011 | 32 | 2011 |
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Individuals with familial hypercholesterolemia and cardiovascular events have higher circulating Lp (a) levels C Pavanello, C Pirazzi, K Bjorkman, J Sandstedt, C Tarlarini, L Mosca, ... Journal of Clinical Lipidology 13 (5), 778-787. e6, 2019 | 28 | 2019 |