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Amy Goldstein

Showing results (71-80 of 104) with videos related to

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AJNR. American Journal of Neuroradiology|April 10, 2025
Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric PatientsCesar A P F Alves, Maria Camilla Rossi-Espagnet, Francisco Perez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Journal of Inherited Metabolic Disease|March 18, 2017
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke projectAmel Karaa, Shamima Rahman, Anne Lombès, et al.
JCSM Clinical Reports|January 24, 2022
Development of a Mitochondrial Myopathy-Composite Assessment ToolJean Flickinger, Jiaxin Fan, Amanda Wellik, et al.
Pediatric Neurology|May 11, 2020
Phenotypic and Imaging Spectrum Associated With WDR45Laura A Adang, Amy Pizzino, Alka Malhotra, et al.
Frontiers in Pharmacology|April 24, 2025
Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial diseaseJing Wang, James T Peterson, Joaquim Diego D Santos, et al.
Molecular Genetics and Metabolism|December 31, 2021
Advanced approach for comprehensive mtDNA genome testing in mitochondrial diseaseJing Wang, Jorune Balciuniene, Maria Alejandra Diaz-Miranda, et al.
Human Molecular Genetics|January 5, 2018
A recurrent de novo missense mutation in UBTF causes developmental neuroregressionCamilo Toro, Roderick T Hori, May Christine V Malicdan, et al.
Pediatric Neurology|May 11, 2026
Emerging Topics in Neurogenomics: Summary From Inaugural Child Neurology Society Genetics SummitKuntal Sen, Rachel Gottlieb-Smith, Srika Amin, et al.
Human Molecular Genetics|February 16, 2018
A recurrent de novo missense mutation in UBTF causes developmental neuroregressionCamilo Toro, Roderick T Hori, May Christine V Malicdan, et al.
Pageof 11

Showing results (71-80 of 104) with videos related to

Sort By:
Pageof 11
AJNR. American Journal of Neuroradiology|April 10, 2025
Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric PatientsCesar A P F Alves, Maria Camilla Rossi-Espagnet, Francisco Perez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Journal of Inherited Metabolic Disease|March 18, 2017
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke projectAmel Karaa, Shamima Rahman, Anne Lombès, et al.
JCSM Clinical Reports|January 24, 2022
Development of a Mitochondrial Myopathy-Composite Assessment ToolJean Flickinger, Jiaxin Fan, Amanda Wellik, et al.
Pediatric Neurology|May 11, 2020
Phenotypic and Imaging Spectrum Associated With WDR45Laura A Adang, Amy Pizzino, Alka Malhotra, et al.
Frontiers in Pharmacology|April 24, 2025
Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial diseaseJing Wang, James T Peterson, Joaquim Diego D Santos, et al.
Molecular Genetics and Metabolism|December 31, 2021
Advanced approach for comprehensive mtDNA genome testing in mitochondrial diseaseJing Wang, Jorune Balciuniene, Maria Alejandra Diaz-Miranda, et al.
Human Molecular Genetics|January 5, 2018
A recurrent de novo missense mutation in UBTF causes developmental neuroregressionCamilo Toro, Roderick T Hori, May Christine V Malicdan, et al.
Pediatric Neurology|May 11, 2026
Emerging Topics in Neurogenomics: Summary From Inaugural Child Neurology Society Genetics SummitKuntal Sen, Rachel Gottlieb-Smith, Srika Amin, et al.
Human Molecular Genetics|February 16, 2018
A recurrent de novo missense mutation in UBTF causes developmental neuroregressionCamilo Toro, Roderick T Hori, May Christine V Malicdan, et al.
Pageof 11