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Ali B Naini

Showing results (1-10 of 23) with videos related to

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Case Reports in Genetics|November 15, 2021
Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA DepletionJustin Kurtz, Joseph Americo Fernandes, Mahesh Mansukhani, et al.
Journal of Experimental and Integrative Medicine|November 23, 2013
A novel <i>POLG</i> gene mutation in a patient with SANDOBulent Kurt, Ali B Naini, William C Copeland, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 17, 2023
Genetic Testing of HTT Modifiers for Huntington's Disease: Considerations for Clinical GuidelinesJill S Goldman, Wendy R Uhlmann, Ali B Naini, et al.
Muscle & Nerve|April 9, 2014
Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM geneLorenzo Peverelli, Carl A Gold, Ali B Naini, et al.
Archives of Neurology|March 16, 2005
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRFAli B Naini, Jiesheng Lu, Petra Kaufmann, et al.
Critical Care (London, England)|August 11, 2011
Coenzyme Q10 levels are low and may be associated with the inflammatory cascade in septic shockMichael W Donnino, Michael N Cocchi, Justin D Salciccioli, et al.
Muscle & Nerve|August 2, 2006
Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiencyShin J Oh, Kyung-Seok Park, Hewitt F Ryan, et al.
Archives of Neurology|November 16, 2005
Muscle coenzyme Q10 level in statin-related myopathyCostanza Lamperti, Ali B Naini, Valeria Lucchini, et al.
Cold Spring Harbor Molecular Case Studies|January 13, 2022
Whole-exome sequencing detects <i>PYGM</i> variants in two adults with McArdle diseaseAmanda Thomas-Wilson, Avinash V Dharmadhikari, Jonas J Heymann, et al.
Molecular Genetics and Metabolism Reports|May 26, 2017
Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ<sub>10</sub> deficiencyNeal Sondheimer, Stacy Hewson, Jessie M Cameron, et al.
Pageof 3

Showing results (1-10 of 23) with videos related to

Sort By:
Pageof 3
Case Reports in Genetics|November 15, 2021
Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA DepletionJustin Kurtz, Joseph Americo Fernandes, Mahesh Mansukhani, et al.
Journal of Experimental and Integrative Medicine|November 23, 2013
A novel <i>POLG</i> gene mutation in a patient with SANDOBulent Kurt, Ali B Naini, William C Copeland, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 17, 2023
Genetic Testing of HTT Modifiers for Huntington's Disease: Considerations for Clinical GuidelinesJill S Goldman, Wendy R Uhlmann, Ali B Naini, et al.
Muscle & Nerve|April 9, 2014
Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM geneLorenzo Peverelli, Carl A Gold, Ali B Naini, et al.
Archives of Neurology|March 16, 2005
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRFAli B Naini, Jiesheng Lu, Petra Kaufmann, et al.
Critical Care (London, England)|August 11, 2011
Coenzyme Q10 levels are low and may be associated with the inflammatory cascade in septic shockMichael W Donnino, Michael N Cocchi, Justin D Salciccioli, et al.
Muscle & Nerve|August 2, 2006
Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiencyShin J Oh, Kyung-Seok Park, Hewitt F Ryan, et al.
Archives of Neurology|November 16, 2005
Muscle coenzyme Q10 level in statin-related myopathyCostanza Lamperti, Ali B Naini, Valeria Lucchini, et al.
Cold Spring Harbor Molecular Case Studies|January 13, 2022
Whole-exome sequencing detects <i>PYGM</i> variants in two adults with McArdle diseaseAmanda Thomas-Wilson, Avinash V Dharmadhikari, Jonas J Heymann, et al.
Molecular Genetics and Metabolism Reports|May 26, 2017
Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ<sub>10</sub> deficiencyNeal Sondheimer, Stacy Hewson, Jessie M Cameron, et al.
Pageof 3