Publications by authors named "Lorenzo Peverelli"

21Publications

MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form.

Mol Genet Genomic Med 2020 09 24;8(9):e1320. Epub 2020 Jun 24.

Neuromuscular and Rare diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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September 2020

New missense variants of NDUFA11 associated with late-onset myopathy.

Muscle Nerve 2019 08 30;60(2):E11-E14. Epub 2019 May 30.

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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August 2019

Rhabdomyolysis-Associated Acute Kidney Injury.

Am J Kidney Dis 2018 06;71(6):A12-A14

Department of Nephrology, Dialysis and Transplantation, Fondazione IRCCS Policlinico San Matteo and University of Pavia, Pavia, Italy.

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June 2018

A case report with the peculiar concomitance of 2 different genetic syndromes.

Medicine (Baltimore) 2016 Dec;95(49):e5567

Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan Azienda Ospedaliera di Desio e Vimercate, Neurology Unit, Desio Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Dino Ferrari Centre, Department of Pathophysiology and Transplantation Neuroscience Section (DEPT), Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

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December 2016

Mitochondrial m.3243A > G mutation and carotid artery dissection.

Mol Genet Metab Rep 2016 Dec 1;9:12-4. Epub 2016 Sep 1.

Unit of Molecular Neurogenetics, The Foundation "Carlo Besta" Institute of Neurology - IRCCS Milan, Italy.

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December 2016

Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy.

Neurology 2015 Nov 23;85(21):1886-93. Epub 2015 Oct 23.

From the Neuromuscular and Rare Diseases Unit (L.P., S.T., L.V., M.S., M. Moggio), Department of Neuroscience, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan; Laboratory of Molecular Medicine for Muscular and Neurodegenerative Diseases (A.D.), Research Center, Confocal Microscopy Facility (S.P.), and Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Bambino Gesù Children's Hospital, Rome; Center of Molecular and Genetic Epidemiology (C.F.), Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milan; Dino Ferrari Center (F.M., G.P.C.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, Milan; U.O. Neuromuscular Diseases and Neuroimmunology (L.M., M. Mora), Fondazione IRCCS Istituto Neurologico C. Besta, Milan; and Department of Neurosciences Rita Levi Montalcini (T.M.), University of Turin, Italy.

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November 2015

Mitochondrial disease heterogeneity: a prognostic challenge.

Acta Myol 2014 Oct;33(2):86-93

UOD Malattie Neuromuscolari e Rare, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Centro Dino Ferrari, Università degli Studi di Milano, Milan, Italy;

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October 2014

Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene.

Muscle Nerve 2014 Aug;50(2):292-5

Department of Neurology, Columbia University Medical Center, College of Physicians & Surgeons, 630 West 168th Street, New York, New York, USA.

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August 2014

Steroid-responsive Hashimoto encephalopathy mimicking Creutzfeldt-Jakob disease.

Neurol Sci 2011 Aug 10;32(4):719-22. Epub 2011 May 10.

Department of Neurological Sciences, University of Milan, Milan, Italy.

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August 2011