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Andreina Bordoni

Showing results (41-50 of 54) with videos related to

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Brain : a Journal of Neurology|January 17, 2019
Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neuronsFederica Rizzo, Monica Nizzardo, Shikha Vashisht, et al.
Archives of Neurology|July 14, 2010
Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosisVeronica Crugnola, Costanza Lamperti, Valeria Lucchini, et al.
Journal of the Neurological Sciences|June 22, 2011
Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegiaDario Ronchi, Elisa Fassone, Andreina Bordoni, et al.
Neuromuscular Disorders : NMD|June 30, 2012
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patientsFrancesca Magri, Roberto Del Bo, Maria Grazia D'Angelo, et al.
BMC Medical Genetics|March 15, 2011
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencingFrancesca Magri, Roberto Del Bo, Maria G D'Angelo, et al.
American Journal of Human Genetics|May 5, 2009
The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiencyAlessio Di Fonzo, Dario Ronchi, Tiziana Lodi, et al.
Brain : a Journal of Neurology|October 9, 2012
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletionsDario Ronchi, Caterina Garone, Andreina Bordoni, et al.
JAMA Neurology|April 7, 2015
Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular AtrophyMichela Ripolone, Dario Ronchi, Raffaella Violano, et al.
Journal of Neurology|March 15, 2011
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-upFrancesca Magri, Alessandra Govoni, Maria Grazia D'Angelo, et al.
American Journal of Human Genetics|January 29, 2013
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instabilityDario Ronchi, Alessio Di Fonzo, Weiqiang Lin, et al.
Pageof 6

Showing results (41-50 of 54) with videos related to

Sort By:
Pageof 6
Brain : a Journal of Neurology|January 17, 2019
Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neuronsFederica Rizzo, Monica Nizzardo, Shikha Vashisht, et al.
Archives of Neurology|July 14, 2010
Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosisVeronica Crugnola, Costanza Lamperti, Valeria Lucchini, et al.
Journal of the Neurological Sciences|June 22, 2011
Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegiaDario Ronchi, Elisa Fassone, Andreina Bordoni, et al.
Neuromuscular Disorders : NMD|June 30, 2012
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patientsFrancesca Magri, Roberto Del Bo, Maria Grazia D'Angelo, et al.
BMC Medical Genetics|March 15, 2011
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencingFrancesca Magri, Roberto Del Bo, Maria G D'Angelo, et al.
American Journal of Human Genetics|May 5, 2009
The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiencyAlessio Di Fonzo, Dario Ronchi, Tiziana Lodi, et al.
Brain : a Journal of Neurology|October 9, 2012
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletionsDario Ronchi, Caterina Garone, Andreina Bordoni, et al.
JAMA Neurology|April 7, 2015
Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular AtrophyMichela Ripolone, Dario Ronchi, Raffaella Violano, et al.
Journal of Neurology|March 15, 2011
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-upFrancesca Magri, Alessandra Govoni, Maria Grazia D'Angelo, et al.
American Journal of Human Genetics|January 29, 2013
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instabilityDario Ronchi, Alessio Di Fonzo, Weiqiang Lin, et al.
Pageof 6