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Franco Carrara

University of Cambridge

58

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Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene.

2017 Molecular genetics and metabolism reports
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RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

2015 American Journal of Human Genetics
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A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature

2014
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A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

2012 Molecular Genetics and Metabolism
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MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I

2012 Neuromuscular Disorders
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Clinical and molecular findings in the first identified Italian family with dentatorubral‐pallidoluysian atrophy

2009 Acta Neurologica Scandinavica
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A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function

2008 Human Molecular Genetics
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Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism

2008 Neuromuscular Disorders
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Cultured muscle cells display defects of mitochondrial myopathy ameliorated by anti-oxidants

2007 Brain
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Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy

2007 Brain
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Citations (109)