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Browsing publications by Dr Paulo Lorenzoni.

Newcastle AuthorsTitleYearFull text
Dr Paulo Lorenzoni
Professor Rita Horvath
Professor Hanns Lochmuller
How to Spot Congenital Myasthenic Syndromes Resembling the Lambert–Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features2018
Dr Yoshiteru Azuma
Dr Ana Topf
Dr Teresinha Evangelista
Dr Paulo Lorenzoni
Dr Andreas Roos
et al.
Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes2017
Dr Paulo Lorenzoni
Adult-onset Alexander disease: could facial myokymia be a symptom?2014
Dr Paulo Lorenzoni
Brainstem reversible leukoencephalopathy syndrome2014
Dr Paulo Lorenzoni
Niemann-Pick disease type C: A case series of Brazilian patients2014
Dr Paulo Lorenzoni
Psychogenic movement disorders: An unusual presentation in childhood with improvement after placebo test2014
Dr Paulo Lorenzoni
When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?2014
Dr Paulo Lorenzoni
Professor Hanns Lochmuller
Congenital myasthenic syndrome and minicore-like myopathy with DOK7 mutation2013
Dr Paulo Lorenzoni
Fluoro-2-deoxy-D-glucose positron emission tomography/computed tomography imaging in the investigation of Lambert-Eaton myasthenic syndrome2013
Dr Paulo Lorenzoni
Muscle biopsy in Pompe disease2013
Dr Paulo Lorenzoni
Dr Amina Chaouch
Professor Hanns Lochmuller
Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation2013
Dr Paulo Lorenzoni
Muscle biopsy features in critical ill patients with 2009 influenza A (H1N1) virus infection2012
Dr Paulo Lorenzoni
Dr Juliane Mueller
Professor Hanns Lochmuller
Molecular characterisation of congenital myasthenic syndromes in Southern Brazil2010