Publications by authors named "Marco Savarese"


Panorama of the distal myopathies.

Acta Myol 2020 Dec 1;39(4):245-265. Epub 2020 Dec 1.

Folkhälsan Research Center, Helsinki, Finland.

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December 2020

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.

PLoS One 2020 19;15(8):e0237803. Epub 2020 Aug 19.

Dipartimento di Medicina di Precisione, Università degli Studi della Campania "Luigi Vanvitelli", Napoli, Italy.

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October 2020

Mutations in the J domain of DNAJB6 cause dominant distal myopathy.

Neuromuscul Disord 2020 01 19;30(1):38-46. Epub 2019 Nov 19.

Neuromuscular Research Center, Tampere University Hospital and Tampere University, P.O. box 100, FIN-33014 Tampere, Finland; Folkhälsan Research Center, Helsinki, Finland and University of Helsinki, Medicum, Helsinki, Finland.

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January 2020

Valosin-containing protein-related myopathy and Meige syndrome: Just a coincidence or not?

Muscle Nerve 2019 12 23;60(6):E43-E45. Epub 2019 Oct 23.

First Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Greece.

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December 2019

An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy.

Neurology 2019 04 6;92(14):e1600-e1609. Epub 2019 Mar 6.

From the Neuromuscular Research Center (M. Jokela, S.L., J.P., B.U.), Department of Neurology, University Hospital and University of Tampere; Division of Clinical Neurosciences (M. Jokela), Department of Neurology, Turku University Hospital and University of Turku; Kiinamyllynkatu 4-8 (M. Jokela), Turku, Finland; Unità Operativa Complessa di Neurologia (G.T.), Dipartimento di Scienze dell'Invecchiamento, Neurologiche, Ortopediche e della Testa-Collo, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Folkhälsan Institute of Genetics and Department of Medical Genetics (A.V., P.-H.J., S.V., M. Johari, M.S.), Haartman Institute, University of Helsinki, Finland; Institute of Pediatric Neurology (E.M., M.P.), Catholic University School of Medicine, Rome, Italy; Department of Pathology (S.H.), Fimlab Laboratories, Tampere University Hospital, Finland; Metabolic and Neuromuscular Unit (M.D.), Meyer Hospital, Florence, Italy; Department of Pediatric Neurology (P.I.), Children's Hospital, University of Helsinki and Helsinki University Hospital; Department of Neurology (P.H.), Kuopio University Hospital and University of Eastern Finland; and Department of Neurology (B.U.), Vasa Central Hospital, Finland.

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April 2019

Copy number variation analysis increases the diagnostic yield in muscle diseases.

Neurol Genet 2017 Dec 11;3(6):e204. Epub 2017 Dec 11.

Folkhälsan Institute of Genetics (S.V., M.S., M.J., L.S., M.A., K.K., K.P., B.U., P.H.), Medicum, Faculty of Biological and Environmental Sciences (K.P.), University of Helsinki, Finland; Neuromuscular Research Center (B.U.), Tampere University and University Hospital, Finland; Department of Neurology (B.U.), Vaasa Central Hospital, Finland; Biodonostia Health Research Institute (A.S., A.L.D.M), Neurosciences Area, CIBERNED, University of the Basque Country, San Sebastián, Spain; and Centre de Référence Maladies Neuromusculaires (GNMH) (A.-M.C.), Hôpital Marin APHP, Hendaye, France.

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December 2017

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:

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June 2018

The complexity of titin splicing pattern in human adult skeletal muscles.

Skelet Muscle 2018 03 29;8(1):11. Epub 2018 Mar 29.

Folkhälsan Research Center, University of Helsinki, Helsinki, Finland.

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March 2018