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Amy Goldstein

Showing results (81-90 of 104) with videos related to

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Pediatric Neurology|November 16, 2016
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus InfectionNicole Ulrick, Amy Goldstein, Cas Simons, et al.
Journal of Medical Genetics|January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisisSumit Parikh, Amel Karaa, Amy Goldstein, et al.
The Lancet. Neurology|November 2, 2015
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing studyGhayda M Mirzaa, Valerio Conti, Andrew E Timms, et al.
American Journal of Human Genetics|November 5, 2016
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly VariantNataliya Di Donato, Ying Y Jean, A Murat Maga, et al.
Mitochondrion|July 30, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challengesSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Journal of Medical Genetics|July 15, 2016
The clinical, biochemical and genetic features associated with <i>RMND1</i>-related mitochondrial diseaseYi Shiau Ng, Charlotte L Alston, Daria Diodato, et al.
Human Mutation|May 3, 2019
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processingMakenzie Saoura, Christopher A Powell, Robert Kopajtich, et al.
Neurology|June 2, 2023
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical TrialAmel Karaa, Enrico Bertini, Valerio Carelli, et al.
Orphanet Journal of Rare Diseases|November 22, 2024
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trialAmel Karaa, Enrico Bertini, Valerio Carelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Amel Karaa, et al.
Pageof 11

Showing results (81-90 of 104) with videos related to

Sort By:
Pageof 11
Pediatric Neurology|November 16, 2016
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus InfectionNicole Ulrick, Amy Goldstein, Cas Simons, et al.
Journal of Medical Genetics|January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisisSumit Parikh, Amel Karaa, Amy Goldstein, et al.
The Lancet. Neurology|November 2, 2015
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing studyGhayda M Mirzaa, Valerio Conti, Andrew E Timms, et al.
American Journal of Human Genetics|November 5, 2016
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly VariantNataliya Di Donato, Ying Y Jean, A Murat Maga, et al.
Mitochondrion|July 30, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challengesSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Journal of Medical Genetics|July 15, 2016
The clinical, biochemical and genetic features associated with <i>RMND1</i>-related mitochondrial diseaseYi Shiau Ng, Charlotte L Alston, Daria Diodato, et al.
Human Mutation|May 3, 2019
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processingMakenzie Saoura, Christopher A Powell, Robert Kopajtich, et al.
Neurology|June 2, 2023
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical TrialAmel Karaa, Enrico Bertini, Valerio Carelli, et al.
Orphanet Journal of Rare Diseases|November 22, 2024
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trialAmel Karaa, Enrico Bertini, Valerio Carelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Amel Karaa, et al.
Pageof 11