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Andreina Bordoni

Showing results (31-40 of 54) with videos related to

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Annals of Clinical and Translational Neurology|April 25, 2020
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiencyDario Ronchi, Edoardo Monfrini, Sara Bonato, et al.
BMC Neurology|January 18, 2013
POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndromeAntonella Cheldi, Dario Ronchi, Andreina Bordoni, et al.
Parkinsonism & Related Disorders|March 10, 2019
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathyEdoardo Monfrini, Letizia Straniero, Sara Bonato, et al.
BMC Neurology|July 14, 2011
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case reportDario Ronchi, Alessandra Cosi, Davide Tonduti, et al.
European Journal of Human Genetics : EJHG|December 23, 2011
The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairmentDario Ronchi, Monica Sciacco, Andreina Bordoni, et al.
Human Molecular Genetics|October 11, 2019
Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove SyndromeGiacomo Bitetto, Dario Ronchi, Sara Bonato, et al.
The Journal of Clinical Investigation|September 5, 2008
Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophyStefania Corti, Monica Nizzardo, Martina Nardini, et al.
Biochemical and Biophysical Research Communications|August 9, 2011
Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutationDario Ronchi, Andreina Bordoni, Alessandra Cosi, et al.
Pediatric Neurology|March 1, 2006
New mutations in TK2 gene associated with mitochondrial DNA depletionSara Galbiati, Andreina Bordoni, Dimitra Papadimitriou, et al.
Journal of Neurology|May 8, 2002
Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levelsAlessandro Prelle, Lucia Tancredi, Monica Sciacco, et al.
Pageof 6

Showing results (31-40 of 54) with videos related to

Sort By:
Pageof 6
Annals of Clinical and Translational Neurology|April 25, 2020
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiencyDario Ronchi, Edoardo Monfrini, Sara Bonato, et al.
BMC Neurology|January 18, 2013
POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndromeAntonella Cheldi, Dario Ronchi, Andreina Bordoni, et al.
Parkinsonism & Related Disorders|March 10, 2019
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathyEdoardo Monfrini, Letizia Straniero, Sara Bonato, et al.
BMC Neurology|July 14, 2011
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case reportDario Ronchi, Alessandra Cosi, Davide Tonduti, et al.
European Journal of Human Genetics : EJHG|December 23, 2011
The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairmentDario Ronchi, Monica Sciacco, Andreina Bordoni, et al.
Human Molecular Genetics|October 11, 2019
Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove SyndromeGiacomo Bitetto, Dario Ronchi, Sara Bonato, et al.
The Journal of Clinical Investigation|September 5, 2008
Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophyStefania Corti, Monica Nizzardo, Martina Nardini, et al.
Biochemical and Biophysical Research Communications|August 9, 2011
Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutationDario Ronchi, Andreina Bordoni, Alessandra Cosi, et al.
Pediatric Neurology|March 1, 2006
New mutations in TK2 gene associated with mitochondrial DNA depletionSara Galbiati, Andreina Bordoni, Dimitra Papadimitriou, et al.
Journal of Neurology|May 8, 2002
Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levelsAlessandro Prelle, Lucia Tancredi, Monica Sciacco, et al.
Pageof 6