Immunity and inflammation in neurodegenerative diseases G Cappellano, M Carecchio, T Fleetwood, L Magistrelli, R Cantello, ... American journal of neurodegenerative disease 2 (2), 89, 2013 | 172 | 2013 |
Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay WE Heywood, D Galimberti, E Bliss, E Sirka, RW Paterson, ... Molecular neurodegeneration 10, 1-16, 2015 | 171 | 2015 |
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia NE Mencacci, I Rubio-Agusti, A Zdebik, F Asmus, MHR Ludtmann, ... The American journal of human genetics 96 (6), 938-947, 2015 | 144 | 2015 |
Osteopontin is increased in the cerebrospinal fluid of patients with Alzheimer's disease and its levels correlate with cognitive decline C Comi, M Carecchio, A Chiocchetti, S Nicola, D Galimberti, C Fenoglio, ... Journal of Alzheimer's Disease 19 (4), 1143-1148, 2010 | 135 | 2010 |
Recessive mutations in VPS13D cause childhood onset movement disorders J Gauthier, IA Meijer, D Lessel, NE Mencacci, D Krainc, M Hempel, ... Annals of neurology 83 (6), 1089-1095, 2018 | 132 | 2018 |
De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions NE Mencacci, EJ Kamsteeg, K Nakashima, L R’Bibo, DS Lynch, B Balint, ... The American Journal of Human Genetics 98 (4), 763-771, 2016 | 131 | 2016 |
Peripheral nervous system involvement in Parkinson's disease: evidence and controversies C Comi, L Magistrelli, GD Oggioni, M Carecchio, T Fleetwood, R Cantello, ... Parkinsonism & related disorders 20 (12), 1329-1334, 2014 | 103 | 2014 |
Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment … M Carecchio, C Fenoglio, M De Riz, I Guidi, C Comi, F Cortini, E Venturelli, ... Journal of the neurological sciences 287 (1-2), 291-293, 2009 | 97 | 2009 |
The role of osteopontin in neurodegenerative diseases M Carecchio, C Comi Journal of Alzheimer's Disease 25 (2), 179-185, 2011 | 93 | 2011 |
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients M Carecchio, NE Mencacci, A Iodice, R Pons, C Panteghini, G Zorzi, ... Parkinsonism & related disorders 41, 37-43, 2017 | 89 | 2017 |
Movement disorders in adult patients with classical galactosemia I Rubio‐Agusti, M Carecchio, KP Bhatia, M Kojovic, I Parees, ... Movement Disorders 28 (6), 804-810, 2013 | 85 | 2013 |
Phenotypic heterogeneity of the GRN Asp22fs mutation in a large Italian kindred AM Pietroboni, GG Fumagalli, L Ghezzi, C Fenoglio, F Cortini, M Serpente, ... Journal of Alzheimer's Disease 24 (2), 253-259, 2011 | 71 | 2011 |
Primary brain calcification: an international study reporting novel variants and associated phenotypes EM Ramos, M Carecchio, R Lemos, J Ferreira, A Legati, RL Sears, ... European Journal of Human Genetics 26 (10), 1462-1477, 2018 | 69 | 2018 |
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort study M Carecchio, F Invernizzi, P Gonzàlez‐Latapi, C Panteghini, G Zorzi, ... Movement Disorders 34 (10), 1516-1527, 2019 | 68 | 2019 |
ATP1A3-related disorders: an update M Carecchio, G Zorzi, F Ragona, F Zibordi, N Nardocci European Journal of Paediatric Neurology 22 (2), 257-263, 2018 | 65 | 2018 |
C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients AM Alazami, SA Schneider, D Bonneau, L Pasquier, M Carecchio, ... Clinical genetics 78 (6), 585-590, 2010 | 59 | 2010 |
Revisiting the molecular mechanism of neurological manifestations in antiphospholipid syndrome: beyond vascular damage M Carecchio, R Cantello, C Comi Journal of Immunology Research 2014 (1), 239398, 2014 | 58 | 2014 |
Emerging monogenic complex hyperkinetic disorders M Carecchio, NE Mencacci Current neurology and neuroscience reports 17, 1-11, 2017 | 56 | 2017 |
Growth arrest specific 6 concentration is increased in the cerebrospinal fluid of patients with Alzheimer’s disease PP Sainaghi, M Bellan, F Lombino, F Alciato, M Carecchio, D Galimberti, ... Journal of Alzheimer’s Disease 55 (1), 59-65, 2016 | 56 | 2016 |
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia DJS Kuipers, W Mandemakers, CS Lu, S Olgiati, GJ Breedveld, C Fevga, ... Annals of neurology 89 (3), 485-497, 2021 | 54 | 2021 |