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List of works by Nardo Nardocci

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

scientific article

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation

scientific article

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

scientific article

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype

scientific article published on 21 August 2015

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

scientific article published in February 2006

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

scientific article

Mutation screening of the DYT6/THAP1 gene in Italy

scientific article

Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature

scientific article published on September 2006

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

scientific article published on 17 May 2013

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