Department of Neurosciences "Rita Levi Montalcini"

Selected research products

1. Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS.

Hop PJ, Zwamborn RAJ, Hannon E, Shireby GL, Nabais MF, Walker EM, van Rheenen W, van Vugt JJFA, Dekker AM, Westeneng HJ, Tazelaar GHP, van Eijk KR, Moisse M, Baird D, Al Khleifat A, Iacoangeli A, Ticozzi N, Ratti A, Cooper-Knock J, Morrison KE, Shaw PJ, Basak AN, Chiò A, Calvo A, Moglia C, Canosa A, Brunetti M, Grassano M, … , Hardiman O, Chio A, Veldink JH, Smith GD, Mill J.

Sci Transl Med. 2022 Feb 23;14(633):eabj0264. doi: 10.1126/scitranslmed.abj0264. Epub 2022 Feb 23.

PMID: 35196023

2. Amyotrophic lateral sclerosis with SOD1 mutations shows distinct brain metabolic changes.

Canosa A, Calvo A, Moglia C, Vasta R, Palumbo F, Solero L, Di Pede F, Cabras S, Arena V, Zocco G, Casale F, Brunetti M, Sbaiz L, Gallone S, Grassano M, Manera U, Pagani M, Chiò A.

Eur J Nucl Med Mol Imaging. 2022 Jan 25. doi: 10.1007/s00259-021-05668-7. Online ahead of print.

PMID: 35076740

3. Effects of intracellular calcium accumulation on proteins encoded by the major genes underlying amyotrophic lateral sclerosis.

De Marco G, Lomartire A, Manera U, Canosa A, Grassano M, Casale F, Fuda G, Salamone P, Rinaudo MT, Colombatto S, Moglia C, Chiò A, Calvo A.

Sci Rep. 2022 Jan 10;12(1):395. doi: 10.1038/s41598-021-04267-8.

PMID: 35013445

4. Defective cyclophilin A induces TDP-43 proteinopathy: implications for amyotrophic lateral sclerosis and frontotemporal dementia.

Pasetto L, Grassano M, Pozzi S, Luotti S, Sammali E, Migazzi A, Basso M, Spagnolli G, Biasini E, Micotti E, Cerovic M, Carli M, Forloni G, De Marco G, Manera U, Moglia C, Mora G, Traynor BJ, Chiò A, Calvo A, Bonetto V.

Brain. 2021 Dec 31;144(12):3710-3726. doi: 10.1093/brain/awab333.

PMID: 34972208

5. Validation of the Italian version of the Rasch-Built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS) administered to patients and their caregivers.

Manera U, Solero L, Fournier CN, Canosa A, Vasta R, Bombaci A, Grassano M, Palumbo F, Torrieri MC, Salamone P, Casale F, Fuda G, Moglia C, Calvo A, Chiò A.

Amyotroph Lateral Scler Frontotemporal Degener. 2021 Dec 11:1-6. doi: 10.1080/21678421.2021.2013892. Online ahead of print.

PMID: 34894916

6. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, …, Al-Chalabi A, Van Damme P, van den Berg LH, Veldink JH.

Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6.

PMID: 34873335

7. GBA variants influence cognitive status in amyotrophic lateral sclerosis.

Canosa A, Grassano M, Moglia C, Iazzolino B, Peotta L, Gallone S, Brunetti M, Barberis M, Sbaiz L, Palumbo F, Cabras S, Manera U, Vasta R, Traynor B, Corrado L, D'Alfonso S, Mazzini L, Calvo A, Chio A.

J Neurol Neurosurg Psychiatry. 2022 Apr;93(4):453-455. doi: 10.1136/jnnp-2021-327426. Epub 2021 Sep 28.

PMID: 34583942 No abstract available.

8. Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium (…Grassano M…)

JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598.

PMID: 34459874

9. Can amyotrophic lateral sclerosis progression really pause? A cohort study using the medical research council scale.

Vasta R, Solero L, Palumbo F, Manera U, Torrieri MC, Grassano M, Canosa A, Moglia C, Calvo A, Chiò A.

Amyotroph Lateral Scler Frontotemporal Degener. 2021 Aug 9:1-7. doi: 10.1080/21678421.2021.1961807. Online ahead of print.

PMID: 34365891

10. What is amyotrophic lateral sclerosis prevalence?

Vasta R, Moglia C, Manera U, Canosa A, Grassano M, Palumbo F, Cugnasco P, De Marchi F, Mazzini L, Calvo A, ChiÒ A.

Amyotroph Lateral Scler Frontotemporal Degener. 2021 Jun 21:1-6. doi: 10.1080/21678421.2021.1936557. Online ahead of print.

PMID: 34151660

11. Tailoring patients' enrollment in ALS clinical trials: the effect of disease duration and vital capacity cutoffs.

Torrieri MC, Manera U, Mora G, Canosa A, Vasta R, Fuda G, Salamone P, Grassano M, Cugnasco P, Launaro N, De Marchi F, Mattei A, Mazzini L, Moglia C, Calvo A, Chiò A.

Amyotroph Lateral Scler Frontotemporal Degener. 2022 Feb;23(1-2):108-115. doi: 10.1080/21678421.2021.1936063. Epub 2021 Aug 6.

PMID: 34355622

12. A novel splice site FUS mutation in a familial ALS case: effects on protein expression.

Canosa A, Lomartire A, De Marco G, Grassano M, Brunetti M, Manera U, Vasta R, Salamone P, Fuda G, Sbaiz L, Gallone S, Moglia C, Calvo A, Chiò A.

Amyotroph Lateral Scler Frontotemporal Degener. 2022 Feb;23(1-2):128-136. doi: 10.1080/21678421.2021.1909065. Epub 2021 Apr 21.

PMID: 33879000

13. Amyotrophic lateral sclerosis caregiver burden and patients' quality of life during COVID-19 pandemic.

Giusiano S, Peotta L, Iazzolino B, Mastro E, Arcari M, Palumbo F, Torrieri MC, Bombaci A, Grassano M, Cabras S, Di Pede F, DeMattei F, Matteoni E, Solero L, Daviddi M, Salamone P, Fuda G, Manera U, Canosa A, Chiò A, Calvo A, Moglia C, Vasta R.

Amyotroph Lateral Scler Frontotemporal Degener. 2022 Feb;23(1-2):146-148. doi: 10.1080/21678421.2021.1912772. Epub 2021 Apr 16.

PMID: 33860702

14. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.

Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding J, Makarious MB, Diez-Fairen M, Portley MK, Shah Z, Abramzon Y, Hernandez DG, Blauwendraat C, Stone DJ, Eicher J, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, St George-Hyslop P, Londos E, Morgan K, Lashley T, Warner TT, Jaunmuktane Z, Galasko D, Santana I, Tienari PJ, Myllykangas L, Oinas M, Cairns NJ, Morris JC, Halliday GM, Van Deerlin VM, Trojanowski JQ, Grassano M, …, Singleton AB, Ryten M, Dickson DW, Chiò A, Ross OA, Gibbs JR, Dalgard CL, Traynor BJ, Scholz SW.

Nat Genet. 2021 Mar;53(3):294-303. doi: 10.1038/s41588-021-00785-3. Epub 2021 Feb 15.

PMID: 33589841

15. The interplay among education, brain metabolism, and cognitive impairment suggests a role of cognitive reserve in Amyotrophic Lateral Sclerosis.

Canosa A, Palumbo F, Iazzolino B, Peotta L, Di Pede F, Manera U, Vasta R, Grassano M, Solero L, Arena V, Moglia C, Calvo A, Chiò A, Pagani M.

Neurobiol Aging. 2021 Feb;98:205-213. doi: 10.1016/j.neurobiolaging.2020.11.010. Epub 2020 Nov 19.

PMID: 33316576

16. Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort.

Grassano M, Calvo A, Moglia C, Brunetti M, Barberis M, Sbaiz L, Canosa A, Manera U, Vasta R, Corrado L, D'Alfonso S, Mazzini L, Scholz SW, Dalgard C, Ding J, Gibbs RJ, Chia R, Traynor BJ, Chiò A; American Genomic Center.

Neurology. 2021 Jan 26;96(4):e600-e609. doi: 10.1212/WNL.0000000000011209. Epub 2020 Nov 18.

PMID: 33208543

17. Brain metabolic correlates of apathy in amyotrophic lateral sclerosis: An 18F-FDG-positron emission tomography stud.

Canosa A, Vacchiano V, D'Ovidio F, Calvo A, Moglia C, Manera U, Vasta R, Liguori R, Arena V, Grassano M, Palumbo F, Peotta L, Iazzolino B, Pagani M, Chiò A.

Eur J Neurol. 2021 Mar;28(3):745-753. doi: 10.1111/ene.14637. Epub 2020 Dec 3.

PMID: 33175462

18. Differential Neuropsychological Profile of Patients With Amyotrophic Lateral Sclerosis With and Without C9orf72 Mutation.

Iazzolino B, Peotta L, Zucchetti JP, Canosa A, Manera U, Vasta R, Grassano M, Palumbo F, Brunetti M, Barberis M, Sbaiz L, Moglia C, Calvo A, Chiò A.

Neurology. 2021 Jan 5;96(1):e141-e152. doi: 10.1212/WNL.0000000000011093. Epub 2020 Oct 26.

PMID: 33106391

19. Brain metabolic changes across King's stages in amyotrophic lateral sclerosis: a 18F-2-fluoro-2-deoxy-D-glucose-positron emission tomography study.

Canosa A, Calvo A, Moglia C, Manera U, Vasta R, Di Pede F, Cabras S, Nardo D, Arena V, Grassano M, D'Ovidio F, Van Laere K, Van Damme P, Pagani M, Chiò A.

Eur J Nucl Med Mol Imaging. 2021 Apr;48(4):1124-1133. doi: 10.1007/s00259-020-05053-w. Epub 2020 Oct 7.

PMID: 33029654

20. Broadening the clinical spectrum of FUS mutations: a case with monomelic amyotrophy with a late progression to amyotrophic lateral sclerosis.

Moglia C, Calvo A, Brunetti M, Chiò A, Grassano M.

Neurol Sci. 2021 Mar;42(3):1207-1209. doi: 10.1007/s10072-020-04751-5. Epub 2020 Oct 1.

PMID: 33001405 No abstract available.

21. The Characteristics of Cognitive Impairment in ALS Patients Depend on the Lateralization of Motor Damage.

Manera U, Peotta L, Iazzolino B, Canosa A, Vasta R, Palumbo F, Torrieri MC, Solero L, Daviddi M, Grassano M, Moglia C, Pagani M, Chiò A, Cavallo M.

Brain Sci. 2020 Sep 19;10(9):650. doi: 10.3390/brainsci10090650.

PMID: 32961718

22. Telemedicine for patients with amyotrophic lateral sclerosis during COVID-19 pandemic: an Italian ALS referral center experience.

Vasta R, Moglia C, D'Ovidio F, Di Pede F, De Mattei F, Cabras S, Peotta L, Iazzolino B, Giusiano S, Manera U, Palumbo F, Bombaci A, Torrieri MC, Ilardi A, Mastro E, Arcari M, Solero L, Grassano M, Daviddi M, Matteoni E, Salamone P, Fuda G, Canosa A, Chiò A, Calvo A.

Amyotroph Lateral Scler Frontotemporal Degener. 2021 May;22(3-4):308-311. doi: 10.1080/21678421.2020.1820043. Epub 2020 Sep 12.

PMID: 32924624

23. Validation of the Italian version of self-administered ALSFRS-R scale.

Manera U, Cabras S, Daviddi M, Vasta R, Torrieri MC, Palumbo F, Bombaci A, Grassano M, Solero L, Peotta L, Iazzolino B, Canosa A, Calvo A, Chiò A, Moglia C.

Amyotroph Lateral Scler Frontotemporal Degener. 2021 Feb;22(1-2):151-153. doi: 10.1080/21678421.2020.1813307. Epub 2020 Aug 28.

PMID: 32856494

24. A familial amyotrophic lateral sclerosis pedigree discordant for a novel p.Glu46Asp heterozygous OPTN variant and the p.Ala5Val heterozygous SOD1 missense mutation.

Canosa A, Grassano M, Barberis M, Brunetti M, Manera U, Vasta R, Cammarosano S, De Marco G, Calvo A, Chiò A, Moglia C.

J Clin Neurosci. 2020 May;75:223-225. doi: 10.1016/j.jocn.2020.03.032. Epub 2020 Mar 27.

PMID: 32223976

25. ALS phenotype is influenced by age, sex, and genetics: A population-based study.

Chiò A, Moglia C, Canosa A, Manera U, D'Ovidio F, Vasta R, Grassano M, Brunetti M, Barberis M, Corrado L, D'Alfonso S, Iazzolino B, Peotta L, Sarnelli MF, Solara V, Zucchetti JP, De Marchi F, Mazzini L, Mora G, Calvo A.

Neurology. 2020 Feb 25;94(8):e802-e810. doi: 10.1212/WNL.0000000000008869. Epub 2020 Jan 6.

PMID: 31907290

26. Regional spreading of symptoms at diagnosis as a prognostic marker in amyotrophic lateral sclerosis: a population-based study.

Manera U, Calvo A, Daviddi M, Canosa A, Vasta R, Torrieri MC, Grassano M, Brunetti M, D'Alfonso S, Corrado L, De Marchi F, Moglia C, D'Ovidio F, Mora G, Mazzini L, Chiò A.

J Neurol Neurosurg Psychiatry. 2020 Mar;91(3):291-297. doi: 10.1136/jnnp-2019-321153. Epub 2019 Dec 23.

PMID: 31871138

27. Effect modification of the association between total cigarette smoking and ALS risk by intensity, duration and time-since-quitting: Euro-MOTOR.

Peters S, Visser AE, D'Ovidio F, Vlaanderen J, Portengen L, Beghi E, Chio A, Logroscino G, Hardiman O, Pupillo E, Veldink JH, Vermeulen R, van den Berg LH; Euro-MOTOR consortium.

J Neurol Neurosurg Psychiatry. 2020 Jan;91(1):33-39. doi: 10.1136/jnnp-2019-320986. Epub 2019 Aug 21.

PMID: 31434759

28. Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis.

Bandres-Ciga S, Noyce AJ, Hemani G, Nicolas A, Calvo A, Mora G; ITALSGEN Consortium; International ALS Genomics Consortium, Tienari PJ, Stone DJ, Nalls MA, Singleton AB, Chiò A, Traynor BJ.

Ann Neurol. 2019 Apr;85(4):470-481. doi: 10.1002/ana.25431. Epub 2019 Mar 13.

PMID: 30723964

29. Early weight loss in amyotrophic lateral sclerosis: outcome relevance and clinical correlates in a population-based cohort.

Moglia C, Calvo A, Grassano M, Canosa A, Manera U, D'Ovidio F, Bombaci A, Bersano E, Mazzini L, Mora G, Chiò A; Piemonte and Valle d’Aosta Register for ALS (PARALS).

J Neurol Neurosurg Psychiatry. 2019 Jun;90(6):666-673. doi: 10.1136/jnnp-2018-319611. Epub 2019 Jan 10.

PMID: 30630957

30. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium (…Grassano M…), van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE.

Neuron. 2018 Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027.

PMID: 29566793

31. Secular Trends of Amyotrophic Lateral Sclerosis: The Piemonte and Valle d'Aosta Register.

Chiò A, Mora G, Moglia C, Manera U, Canosa A, Cammarosano S, Ilardi A, Bertuzzo D, Bersano E, Cugnasco P, Grassano M, Pisano F, Mazzini L, Calvo A; Piemonte and Valle d’Aosta Register for ALS (PARALS).

JAMA Neurol. 2017 Sep 1;74(9):1097-1104. doi: 10.1001/jamaneurol.2017.1387.

PMID: 28692730

32. Influence of arterial hypertension, type 2 diabetes and cardiovascular risk factors on ALS outcome: a population-based study.

Moglia C, Calvo A, Canosa A, Bertuzzo D, Cugnasco P, Solero L, Grassano M, Bersano E, Cammarosano S, Manera U; Parals, Pisano F, Mazzini L, Dalla Vecchia LA, Mora G, Chiò A.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 Nov;18(7-8):590-597. doi: 10.1080/21678421.2017.1336560. Epub 2017 Jun 15.

PMID: 28616937

Research topics

Genetic basis of Amyotrophic Lateral Sclerosis

Genetic determinants of phenotypic heterogeneity in Amyotrophic Lateral Sclerosis

Interplay between genetic end environmental factors in neurodegenerative disease

Molecular and genetic inflammatory/neuroinflammatory networks in neurodegenerative disease

Research groups

• Sclerosi Laterale Amiotrofica (CRESLA)