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List of works by Patrizia Ciscato

A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy

scientific article published on 15 September 2005

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

scientific article

Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene

scientific article published on 4 January 2006

Decorin and biglycan expression is differentially altered in several muscular dystrophies

scientific article published on 23 September 2005

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

scientific article

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients

scientific article

Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation

scientific article

Mitochondrial changes in platelets are not related to those in skeletal muscle during human septic shock

scientific article

Novel CLN3 mutation causing autophagic vacuolar myopathy

scientific article

Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels.

scientific article

Stormorken Syndrome Caused by a p.R304W Mutation: The First Italian Patient and a Review of the Literature

article

The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment

scientific article published on 18 February 2010

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

scientific article published on 21 December 2011

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