Chio A, Calvo A, Moglia C, Mazzini L, Mora G. Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study. J Neurol Neurosurg Psychiatry. 2011;82:740-6 pubmed publisher
..However, the differential characteristics of these phenotypes are still largely unknown...
Iazzolino B, Pain D, Peotta L, Calvo A, Moglia C, Canosa A, et al
. Validation of the revised classification of cognitive and behavioural impairment in ALS. J Neurol Neurosurg Psychiatry. 2019;: pubmed publisher
..The new ALSFTD-2 criteria, compared with the old ones, have positive effects on the clinical practice being more sensitive to the early cognitive impairment and having a better prognostic yield. ..
Moglia C, Calvo A, Grassano M, Canosa A, Manera U, D Ovidio F, et al
. Early weight loss in amyotrophic lateral sclerosis: outcome relevance and clinical correlates in a population-based cohort. J Neurol Neurosurg Psychiatry. 2019;: pubmed publisher
..According to our findings, we recommend that in clinical trials patients should be stratified according to the presence of dysphagia at the time of enrolment and not by site of onset of symptoms. ..
Chio A, Mazzini L, D Alfonso S, Corrado L, Canosa A, Moglia C, et al
. The multistep hypothesis of ALS revisited: The role of genetic mutations. Neurology. 2018;91:e635-e642 pubmed publisher
ChiÃ² A, Calvo A, Moglia C, Ossola I, Brunetti M, Sbaiz L, et al
. A de novo missense mutation of the FUS gene in a "true" sporadic ALS case. Neurobiol Aging. 2011;32:553.e23-6 pubmed publisher
..R521C). This report highlights the importance of screening ALS patients, both familial and sporadic, for FUS mutations and also suggests that de novo mutations is a relevant mechanism underlying sporadic neurodegenerative disease. ..
ChiÃ² A, Pagani M, Agosta F, Calvo A, Cistaro A, Filippi M. Neuroimaging in amyotrophic lateral sclerosis: insights into structural and functional changes. Lancet Neurol. 2014;13:1228-40 pubmed publisher
..Studies involving international collaborations, standardised assessments, and large patient cohorts will overcome these shortcomings and provide further insight into the pathogenesis of ALS. ..
Calvo A, Moglia C, Canosa A, Brunetti M, Barberis M, Traynor B, et al
. De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case. Neurobiol Aging. 2014;35:1513.e7-11 pubmed publisher
..De novo mutations could account for a sizable number of apparently sporadic ALS patients carrying mutations of ALS-related genes. ..
ChiÃ² A, Mora G, Sabatelli M, Caponnetto C, Lunetta C, Traynor B, et al
. HFE p.H63D polymorphism does not influence ALS phenotype and survival. Neurobiol Aging. 2015;36:2906.e7-11 pubmed publisher
..Differently from what observed in the mouse model of ALS, the HFE p.His63Asp polymorphism has no effect on ALS phenotype in this large series of Italian ALS patients. ..
Chio A, Calvo A, Mazzini L, Cantello R, Mora G, Moglia C, et al
. Extensive genetics of ALS: a population-based study in Italy. Neurology. 2012;79:1983-9 pubmed publisher
..012). We have found that ?11% of patients with ALS carry a genetic mutation, with C9ORF72 being the commonest genetic alteration. Comorbid FTD or a young age at onset are strong indicators of a possible genetic origin of the disease. ..