List of works - Simona Portaro

A case of necrotizing myopathy with proximal weakness and cardiomyopathy

scientific article published on 01 May 2012

A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1

scientific article

ANT1 is reduced in sporadic inclusion body myositis.

scientific article published on 21 February 2012

Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype

scientific article published on 16 November 2011

Antidepressants in people with epilepsy: A double-edge sword!

scientific article

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita

scientific journal article

Five years experience on 3,4-diaminopyridine phosphate in Lambert-Eaton syndrome: Case reports.

scientific article published on September 2017

Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review.

scientific article published on 4 March 2016

Hypothyroid myopathy: A peculiar clinical presentation of thyroid failure. Review of the literature.

scientific article published on 7 May 2016

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

scientific article published on 10 April 2020

Long-Term Follow-Up in Infantile-Onset Lambert-Eaton Myasthenic Syndrome

scientific article published on 10 October 2013

Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls.

scientific article published in August 2016

Novel Approaches to the Diagnosis of Chronic Disorders of Consciousness: Detecting Peripersonal Space by Using Ultrasonics

scientific article published on 5 February 2018

Sporadic late-onset nemaline myopathy in a woman with multiple myeloma successfully treated with lenalidomide/dexamethasone

scientific article published on 05 January 2015

Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita

scientific article published on 24 August 2012

TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature.

scientific article published on 23 February 2016

Toward a more personalized motor function rehabilitation in Myotonic dystrophy type 1: The role of neuroplasticity

scientific article

List of works by Simona Portaro

A case of necrotizing myopathy with proximal weakness and cardiomyopathy

A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1

ANT1 is reduced in sporadic inclusion body myositis.

Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype

Antidepressants in people with epilepsy: A double-edge sword!

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita

Five years experience on 3,4-diaminopyridine phosphate in Lambert-Eaton syndrome: Case reports.

Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review.

Hypothyroid myopathy: A peculiar clinical presentation of thyroid failure. Review of the literature.

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

Long-Term Follow-Up in Infantile-Onset Lambert-Eaton Myasthenic Syndrome

Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls.

Novel Approaches to the Diagnosis of Chronic Disorders of Consciousness: Detecting Peripersonal Space by Using Ultrasonics

Sporadic late-onset nemaline myopathy in a woman with multiple myeloma successfully treated with lenalidomide/dexamethasone

Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita

TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature.

Toward a more personalized motor function rehabilitation in Myotonic dystrophy type 1: The role of neuroplasticity