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Genes
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February 13, 2021
Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches
Michela Di Nottia, Daniela Verrigni, Alessandra Torraco, et al.
Glia
|
May 29, 2014
Mitochondrial dysfunction in central nervous system white matter disorders
Laia Morató, Enrico Bertini, Daniela Verrigni, et al.
Neurology. Genetics
|
July 11, 2022
Novel <i>TOP3A</i> Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha-Related Diseases
Guido Primiano, Alessandra Torraco, Daniela Verrigni, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
May 27, 2015
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review
Claudia Castiglioni, Daniela Verrigni, Cecilia Okuma, et al.
Molecular Genetics and Metabolism
|
August 27, 2013
Efficacy of miglustat in Niemann-Pick C disease: a single centre experience
Virginia Maria Ginocchio, Adele D'Amico, Enrico Bertini, et al.
Cell Metabolism
|
January 11, 2016
Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB
Nunziata Maio, Daniele Ghezzi, Daniela Verrigni, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
July 20, 2014
A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease
Sara Boenzi, Federica Deodato, Roberta Taurisano, et al.
European Journal of Human Genetics : EJHG
|
January 24, 2018
Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants
Claudia Castiglioni, Fabiana Fattori, Bjarne Udd, et al.
Biochimie
|
March 25, 2014
Effects of levosimendan on mitochondrial function in patients with septic shock: a randomized trial
Alessandra Torraco, Rosalba Carrozzo, Fiorella Piemonte, et al.
Molecular Genetics and Metabolism
|
February 4, 2014
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients
Michela Catteruccia, Daniela Verrigni, Diego Martinelli, et al.
Page
of 4
Search research articles
Search
Showing results (1-10 of 33) with videos related to
Sort By:
Page
of 4
Genes
|
February 13, 2021
Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches
Michela Di Nottia, Daniela Verrigni, Alessandra Torraco, et al.
Glia
|
May 29, 2014
Mitochondrial dysfunction in central nervous system white matter disorders
Laia Morató, Enrico Bertini, Daniela Verrigni, et al.
Neurology. Genetics
|
July 11, 2022
Novel <i>TOP3A</i> Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha-Related Diseases
Guido Primiano, Alessandra Torraco, Daniela Verrigni, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
May 27, 2015
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review
Claudia Castiglioni, Daniela Verrigni, Cecilia Okuma, et al.
Molecular Genetics and Metabolism
|
August 27, 2013
Efficacy of miglustat in Niemann-Pick C disease: a single centre experience
Virginia Maria Ginocchio, Adele D'Amico, Enrico Bertini, et al.
Cell Metabolism
|
January 11, 2016
Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB
Nunziata Maio, Daniele Ghezzi, Daniela Verrigni, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
July 20, 2014
A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease
Sara Boenzi, Federica Deodato, Roberta Taurisano, et al.
European Journal of Human Genetics : EJHG
|
January 24, 2018
Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants
Claudia Castiglioni, Fabiana Fattori, Bjarne Udd, et al.
Biochimie
|
March 25, 2014
Effects of levosimendan on mitochondrial function in patients with septic shock: a randomized trial
Alessandra Torraco, Rosalba Carrozzo, Fiorella Piemonte, et al.
Molecular Genetics and Metabolism
|
February 4, 2014
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients
Michela Catteruccia, Daniela Verrigni, Diego Martinelli, et al.
Page
of 4