Publications by authors named "Maria Lucia Valentino"

60Publications

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

Expanding and validating the biomarkers for mitochondrial diseases.

J Mol Med (Berl) 2020 Oct 26;98(10):1467-1478. Epub 2020 Aug 26.

IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.

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October 2020

Novel mutations in DNA2 associated with myopathy and mtDNA instability.

Ann Clin Transl Neurol 2019 09 2;6(9):1893-1899. Epub 2019 Sep 2.

Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.

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September 2019

Incomplete penetrance in mitochondrial optic neuropathies.

Mitochondrion 2017 09 14;36:130-137. Epub 2017 Jul 14.

IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy. Electronic address:

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September 2017

Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.

Brain 2016 06 25;139(Pt 6):e34. Epub 2016 Mar 25.

3 Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy 4 IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Via Altura 3, 40139 Bologna, Italy.

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June 2016