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Massimo Zeviani

Showing results (261-270 of 289) with videos related to

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European Journal of Human Genetics : EJHG|April 14, 2005
Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in ItaliansDaniele Ghezzi, Cecilia Marelli, Alessandro Achilli, et al.
Brain : a Journal of Neurology|April 20, 2006
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma geneRita Horvath, Gavin Hudson, Gianfrancesco Ferrari, et al.
Journal of Medical Genetics|December 28, 2011
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9Tobias B Haack, Florence Madignier, Martina Herzer, et al.
Human Mutation|March 12, 2008
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrumRoberta Marongiu, Alessandro Ferraris, Tàmara Ialongo, et al.
Annals of Neurology|March 31, 2015
Syndromic parkinsonism and dementia associated with OPA1 missense mutationsValerio Carelli, Olimpia Musumeci, Leonardo Caporali, et al.
Neuromuscular Disorders : NMD|March 30, 2016
"Mitochondrial neuropathies": A survey from the large cohort of the Italian NetworkMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Plos One|August 11, 2012
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathyAlessandro Achilli, Luisa Iommarini, Anna Olivieri, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 11, 2014
Myoclonus in mitochondrial disordersMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Journal of Medical Genetics|April 14, 2012
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencingTobias B Haack, Birgit Haberberger, Eva-Maria Frisch, et al.
Neurology. Genetics|May 17, 2017
Clinicopathologic and molecular spectrum of <i>RNASEH1</i>-related mitochondrial diseaseEnrico Bugiardini, Olivia V Poole, Andreea Manole, et al.
Pageof 29

Showing results (261-270 of 289) with videos related to

Sort By:
Pageof 29
European Journal of Human Genetics : EJHG|April 14, 2005
Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in ItaliansDaniele Ghezzi, Cecilia Marelli, Alessandro Achilli, et al.
Brain : a Journal of Neurology|April 20, 2006
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma geneRita Horvath, Gavin Hudson, Gianfrancesco Ferrari, et al.
Journal of Medical Genetics|December 28, 2011
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9Tobias B Haack, Florence Madignier, Martina Herzer, et al.
Human Mutation|March 12, 2008
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrumRoberta Marongiu, Alessandro Ferraris, Tàmara Ialongo, et al.
Annals of Neurology|March 31, 2015
Syndromic parkinsonism and dementia associated with OPA1 missense mutationsValerio Carelli, Olimpia Musumeci, Leonardo Caporali, et al.
Neuromuscular Disorders : NMD|March 30, 2016
"Mitochondrial neuropathies": A survey from the large cohort of the Italian NetworkMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Plos One|August 11, 2012
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathyAlessandro Achilli, Luisa Iommarini, Anna Olivieri, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 11, 2014
Myoclonus in mitochondrial disordersMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Journal of Medical Genetics|April 14, 2012
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencingTobias B Haack, Birgit Haberberger, Eva-Maria Frisch, et al.
Neurology. Genetics|May 17, 2017
Clinicopathologic and molecular spectrum of <i>RNASEH1</i>-related mitochondrial diseaseEnrico Bugiardini, Olivia V Poole, Andreea Manole, et al.
Pageof 29