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Andrew M Schaefer

Showing results (21-30 of 60) with videos related to

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Journal of Neurology|October 24, 2013
Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequencesBrook Galna, Jane Newman, Djordje G Jakovljevic, et al.
Journal of Clinical Medicine|June 7, 2019
A Novel Pathogenic Variant in <i>MT-CO2</i> Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar AtaxiaCharlotte M Zierz, Karen Baty, Emma L Blakely, et al.
Annals of Neurology|March 30, 2004
Familial myopathy: new insights into the T14709C mitochondrial tRNA mutationRobert McFarland, Andrew M Schaefer, Julie L Gardner, et al.
Annals of Clinical and Translational Neurology|May 30, 2019
Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: importance of correcting for baseline intellectual abilityHeather L Moore, Thomas Kelly, Alexandra Bright, et al.
Frontiers in Genetics|March 12, 2020
Novel <i>MT-ND</i> Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I DeficiencyYi Shiau Ng, Kyle Thompson, Daniela Loher, et al.
Neuromuscular Disorders : NMD|July 30, 2021
A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicityKaren Baty, Maria E Farrugia, Sila Hopton, et al.
The Journal of Clinical Endocrinology and Metabolism|November 14, 2018
Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial DiseaseRachel L Boal, Yi Shiau Ng, Sarah J Pickett, et al.
Annals of Clinical and Translational Neurology|March 22, 2018
Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factorsSarah J Pickett, John P Grady, Yi Shiau Ng, et al.
Neurology. Genetics|December 22, 2017
Opening One's Eyes to Mosaicism in Progressive External OphthalmoplegiaEwen W Sommerville, Rachel L Jones, Steven A Hardy, et al.
Journal of Neuromuscular Diseases|November 19, 2016
Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial DiseaseJane Newman, Brook Galna, Djordje G Jakovljevic, et al.
Pageof 6

Showing results (21-30 of 60) with videos related to

Sort By:
Pageof 6
Journal of Neurology|October 24, 2013
Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequencesBrook Galna, Jane Newman, Djordje G Jakovljevic, et al.
Journal of Clinical Medicine|June 7, 2019
A Novel Pathogenic Variant in <i>MT-CO2</i> Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar AtaxiaCharlotte M Zierz, Karen Baty, Emma L Blakely, et al.
Annals of Neurology|March 30, 2004
Familial myopathy: new insights into the T14709C mitochondrial tRNA mutationRobert McFarland, Andrew M Schaefer, Julie L Gardner, et al.
Annals of Clinical and Translational Neurology|May 30, 2019
Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: importance of correcting for baseline intellectual abilityHeather L Moore, Thomas Kelly, Alexandra Bright, et al.
Frontiers in Genetics|March 12, 2020
Novel <i>MT-ND</i> Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I DeficiencyYi Shiau Ng, Kyle Thompson, Daniela Loher, et al.
Neuromuscular Disorders : NMD|July 30, 2021
A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicityKaren Baty, Maria E Farrugia, Sila Hopton, et al.
The Journal of Clinical Endocrinology and Metabolism|November 14, 2018
Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial DiseaseRachel L Boal, Yi Shiau Ng, Sarah J Pickett, et al.
Annals of Clinical and Translational Neurology|March 22, 2018
Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factorsSarah J Pickett, John P Grady, Yi Shiau Ng, et al.
Neurology. Genetics|December 22, 2017
Opening One's Eyes to Mosaicism in Progressive External OphthalmoplegiaEwen W Sommerville, Rachel L Jones, Steven A Hardy, et al.
Journal of Neuromuscular Diseases|November 19, 2016
Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial DiseaseJane Newman, Brook Galna, Djordje G Jakovljevic, et al.
Pageof 6