Concepedia

Tiziana Mongini

TM

40

Publications

1.7K

Citations

24

H-Index

1983

Active since

Affiliations

University of Turin(Current)

University of Padua

University of Messina

University of Milan

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

Tiziana Mongini is an author at University of Turin specializing in medicine, pathology, and health sciences.

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Publications per year

1983–2021

40

Publications

40

Congenital muscular dystrophies with defective glycosylation of dystroglycan

Eugenio Mercuri, Sonia Messina, Claudio Bruno et al. · Neurology · 2009 · 185 citations

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Ana Töpf, Katherine Johnson, Adam Bates et al. · Genetics in Medicine · 2020 · 105 citations · Full text

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes

Giulia Ricci, Lucia Ruggiero, Liliana Vercelli et al. · Journal of Neurology · 2016 · 95 citations · Full text

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Stéphanie Bauché, S O’Regan, Yoshiteru Azuma et al. · The American Journal of Human Genetics · 2016 · 91 citations · Full text

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Free cytoplasmic Ca <sup>++</sup> at rest and after cholinergic stimulus is increased in cultured muscle cells from Duchenne muscular dystrophy patients

Tiziana Mongini, Dario Ghigo, C. Doriguzzi et al. · Neurology · 1988 · 87 citations

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