Publications by authors named "Giacomo Comi"

306Publications

Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy.

Neurol Genet 2020 Dec 20;6(6):e519. Epub 2020 Oct 20.

Department of Clinical and Experimental Medicine (V.M., F.G., G.S., M.M.), Neurological Clinic, University of Pisa, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C., M.L.V.), UOC Clinica Neurologica, Bologna, Italy; Department of Biomedical and Neuromotor Sciences (DIBINEM) (V.C., M.L.V.), University of Bologna, Italy; Dino Ferrari Centre (G.P.C.), Department of Pathophysiology and Transplantation (DEPT), University of Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (G.P.C., M.M.), Neuromuscular and Rare Disease Unit; Unit of Neurology (M.F.), ASST "Spedali Civili" and University of Brescia, Italy; UO Medical Genetics and Neurogenetics (C.L., S.M.), Fondazione IRCCS Istituto Neurologico C.Besta, Milan, Italy; Neuromuscular Unit (M.T., S.B.), Department of Neurosciences, University of Torino, Italy; Department of Clinical and Experimental Medicine (O.M., A.T., G.T.), UOC Neurologia e Malattie Neuromuscolari, University of Messina, Italy; UOC Neurofisiopatologia Fondazione Policlinico Universitario A. Gemelli IRCCS (S.S., G.P.), Roma, Italy; Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore (S.S., G.P.), Roma, Italy; Department of Neurosciences (P.T.), Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Italy; Neurorehabilitation Unit (A.M.), Department of Neurosciences, University Hospital of Verona, Italy; Neuromuscular Unit (S.B.), Department of Neurosciences, University of Torino, Italy.

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December 2020

A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.

BMC Neurol 2020 Nov 7;20(1):408. Epub 2020 Nov 7.

Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.

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November 2020

Expanding the clinical spectrum of the mitochondrial mutation A13084T in the gene.

Neurol Genet 2020 Oct 15;6(5):e511. Epub 2020 Sep 15.

Neurology Unit (R.B., E.M., F,M., D.R., M.M., N.B., S.C.); Ophthalmological Unit (L.D.A., V.M., C.M., F.V.), IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico; Department of Pathophysiology and Transplantation (D.R., D.G., I.F., N.B., S.C., G.P.C.), Dino Ferrari Center, University of Milan; and Neuromuscular and Rare Diseases Unit (G.P.C.), IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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October 2020

Insights into disease mechanisms and potential therapeutics for C9orf72-related amyotrophic lateral sclerosis/frontotemporal dementia.

Ageing Res Rev 2020 12 22;64:101172. Epub 2020 Sep 22.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122 Milan, Italy; Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122, Milan, Italy. Electronic address:

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December 2020

Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase.

Acta Myol 2020 Jun 1;39(2):57-66. Epub 2020 Jun 1.

Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), Neuroscience Section, University of Milan, Italy.

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June 2020

Animal Models of CMT2A: State-of-art and Therapeutic Implications.

Mol Neurobiol 2020 Dec 27;57(12):5121-5129. Epub 2020 Aug 27.

Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122, Milan, Italy.

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December 2020

Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG.

BMC Neurol 2020 Aug 26;20(1):316. Epub 2020 Aug 26.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.

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August 2020

Management of patients with neuromuscular disorders at the time of the SARS-CoV-2 pandemic.

J Neurol 2020 Aug 17. Epub 2020 Aug 17.

Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.

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August 2020

Extracellular vesicles and amyotrophic lateral sclerosis: from misfolded protein vehicles to promising clinical biomarkers.

Cell Mol Life Sci 2020 Aug 16. Epub 2020 Aug 16.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.

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August 2020

Late-onset leukoencephalopathy in a patient with recessive mutations.

Neurol Genet 2020 Oct 13;6(5):e488. Epub 2020 Jul 13.

Dino Ferrari Centre (E.M., D.R., F.A., G.P.C., N.B., A.D.F.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (E.M., G.F., M.G., F.A., G.P.C., N.B., A.D.F.), Neurology Unit; Department of Biomedical Sciences (L.S., S.D.), Humanitas University, Pieve Emanuele; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (E.S.), Neuroradiology Unit; and Humanitas Clinical and Research Center (S.D.), IRCCS, Rozzano, Milan, Italy.

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October 2020