Publications by authors named "Roberta Brusa"

14Publications

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.

View Article and Find Full Text PDF
October 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.

View Article and Find Full Text PDF
June 2020

Noncoding RNAs in Duchenne and Becker muscular dystrophies: role in pathogenesis and future prognostic and therapeutic perspectives.

Cell Mol Life Sci 2020 Nov 29;77(21):4299-4313. Epub 2020 Apr 29.

Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

View Article and Find Full Text PDF
November 2020

Ophthalmoplegia Due to Miller Fisher Syndrome in a Patient With Myasthenia Gravis.

Front Neurol 2019 13;10:823. Epub 2019 Aug 13.

Neurology Unit, Department of Pathophysiology and Transplantation, Dino Ferrari Center, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

View Article and Find Full Text PDF
August 2019

Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies.

Ther Adv Neurol Disord 2019 3;12:1756286419833478. Epub 2019 May 3.

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

View Article and Find Full Text PDF
May 2019

Central Nervous System Involvement in Common Variable Immunodeficiency: A Case of Acute Unilateral Optic Neuritis in a 26-Year-Old Italian Patient.

Front Neurol 2018 30;9:1031. Epub 2018 Nov 30.

Neurology Unit, Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

View Article and Find Full Text PDF
November 2018

Bilateral Cavernous Carotid Aneurysms: Atypical Presentation of a Rare Cause of Mass Effect. A Case Report and a Review of the Literature.

Front Neurol 2018 2;9:619. Epub 2018 Aug 2.

Dino Ferrari Centre, Neuroscience Section, Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

View Article and Find Full Text PDF
August 2018

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature.

Neuromuscul Disord 2018 06 13;28(6):532-537. Epub 2018 Apr 13.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Foundation Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:

View Article and Find Full Text PDF
June 2018

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.

BMC Neurol 2015 Sep 24;15:172. Epub 2015 Sep 24.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Foundation Cà Granda, Ospedale Maggiore Policlinico, via F. Sforza 35, 20122, Milan, Italy.

View Article and Find Full Text PDF
September 2015