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Frontiers in Neurology
|
March 16, 2019
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients
Olimpia Musumeci, Emanuele Barca, Costanza Lamperti, et al.
Genetics
|
September 21, 2005
Post-transcriptional silencing and functional characterization of the Drosophila melanogaster homolog of human Surf1
Mauro A Zordan, Paola Cisotto, Clara Benna, et al.
JIMD Reports
|
April 18, 2014
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy
Daria Diodato, Federica Invernizzi, Eleonora Lamantea, et al.
American Journal of Human Genetics
|
December 29, 2005
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder
Gavin Hudson, Sharon Keers, Patrick Yu-Wai-Man, et al.
Brain : a Journal of Neurology
|
August 4, 2011
Idebenone treatment in Leber's hereditary optic neuropathy
Valerio Carelli, Chiara La Morgia, Maria Lucia Valentino, et al.
American Journal of Human Genetics
|
January 21, 2004
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein
Valeria Tiranti, Pio D'Adamo, Egill Briem, et al.
Nature Reviews. Neurology
|
July 3, 2013
New treatments for mitochondrial disease-no time to drop our standards
Gerald Pfeffer, Rita Horvath, Thomas Klopstock, et al.
Nature Genetics
|
November 9, 2010
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency
Tobias B Haack, Katharina Danhauser, Birgit Haberberger, et al.
American Journal of Medical Genetics. Part A
|
July 26, 2008
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population
Marianna Bugiani, Yolanda Gyftodimou, Paraskevi Tsimpouka, et al.
Nature Medicine
|
September 26, 2018
Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo
Payam A Gammage, Carlo Viscomi, Marie-Lune Simard, et al.
Page
of 29
Search research articles
Search
Showing results (221-230 of 289) with videos related to
Sort By:
Page
of 29
Frontiers in Neurology
|
March 16, 2019
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients
Olimpia Musumeci, Emanuele Barca, Costanza Lamperti, et al.
Genetics
|
September 21, 2005
Post-transcriptional silencing and functional characterization of the Drosophila melanogaster homolog of human Surf1
Mauro A Zordan, Paola Cisotto, Clara Benna, et al.
JIMD Reports
|
April 18, 2014
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy
Daria Diodato, Federica Invernizzi, Eleonora Lamantea, et al.
American Journal of Human Genetics
|
December 29, 2005
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder
Gavin Hudson, Sharon Keers, Patrick Yu-Wai-Man, et al.
Brain : a Journal of Neurology
|
August 4, 2011
Idebenone treatment in Leber's hereditary optic neuropathy
Valerio Carelli, Chiara La Morgia, Maria Lucia Valentino, et al.
American Journal of Human Genetics
|
January 21, 2004
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein
Valeria Tiranti, Pio D'Adamo, Egill Briem, et al.
Nature Reviews. Neurology
|
July 3, 2013
New treatments for mitochondrial disease-no time to drop our standards
Gerald Pfeffer, Rita Horvath, Thomas Klopstock, et al.
Nature Genetics
|
November 9, 2010
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency
Tobias B Haack, Katharina Danhauser, Birgit Haberberger, et al.
American Journal of Medical Genetics. Part A
|
July 26, 2008
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population
Marianna Bugiani, Yolanda Gyftodimou, Paraskevi Tsimpouka, et al.
Nature Medicine
|
September 26, 2018
Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo
Payam A Gammage, Carlo Viscomi, Marie-Lune Simard, et al.
Page
of 29