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List of works by Chiara Reale

C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation

scientific article published in June 2012

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

scientific article published on 11 August 2021

DYT2 screening in early-onset isolated dystonia.

scientific article published on 13 October 2016

Encephalopathies with intracranial calcification in children: clinical and genetic characterization

scientific article published on 16 August 2018

Expanding the clinical phenotype of DYT5 mutations: Is multiple system atrophy a possible one?

scientific article published on 14 June 2013

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study

scientific article published on 19 June 2019

Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts

scientific article published on 11 March 2015

Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy

scientific article published on 19 September 2018

Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia

scientific article published on 22 August 2014

Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype

scientific article

Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement

scientific article published on 06 December 2019

The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration.

scientific article

The Role of VPS35 in the Pathobiology of Parkinson's Disease

scientific article published on 22 April 2020

The relevance of gene panels in movement disorders diagnosis: A lab perspective.

scientific article published on 29 January 2018

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