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Amy Goldstein

Showing results (51-60 of 104) with videos related to

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Cerebellum (London, England)|May 30, 2021
Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial DisordersJuan Sebastian Martin-Saavedra, Sara Reis Teixeira, Cesar Augusto Pinheiro Ferreira Alves, et al.
Cerebellum (London, England)|January 26, 2022
Correction to: Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial DisordersJuan Sebastian Martin-Saavedra, Sara Reis Teixeira, Cesar Augusto Pinheiro Ferreira Alves, et al.
Radiographics : a Review Publication of the Radiological Society of North America, Inc|November 2, 2020
Primary Mitochondrial Disorders of the Pediatric Central Nervous System: Neuroimaging FindingsFabrício Guimarães Gonçalves, César Augusto Pinheiro Ferreira Alves, Beth Heuer, et al.
Molecular Genetics and Metabolism|October 1, 2022
Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial diseaseJohanna Elander, Elizabeth M McCormick, Maria Värendh, et al.
Circulation. Genomic and Precision Medicine|February 4, 2022
End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic <i>C1QBP</i> VariantsNicholas S Wilcox, Stuart B Prenner, Marisa Cevasco, et al.
Molecular Genetics and Metabolism|March 20, 2025
Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disordersAnthony C T Cheung, Erminia Di Pietro, Catherine Argyriou, et al.
Neurology|February 20, 2025
Adult-onset Leigh Syndrome: An analysis of the North American Mitochondrial Disease Consortium Database (P3-11.017)Emanuele Barca, Adam Kroopnick, Alexander Houck, et al.
Annals of Neurology|December 28, 2020
Reply to "Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations"Cesar Augusto Pinheiro Ferreira Alves, Sara Reis Teixeira, Juan Sebastian Martin-Saavedra, et al.
The American Journal of Pathology|November 22, 2022
iPSC-Derived Neurons from Patients with POLG Mutations Exhibit Decreased Mitochondrial Content and Dendrite SimplificationManish Verma, Lily Francis, Britney N Lizama, et al.
Annals of Neurology|May 24, 2020
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic CorrelationsCesar A P F Alves, Sara R Teixeira, Juan S Martin-Saavedra, et al.
Pageof 11

Showing results (51-60 of 104) with videos related to

Sort By:
Pageof 11
Cerebellum (London, England)|May 30, 2021
Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial DisordersJuan Sebastian Martin-Saavedra, Sara Reis Teixeira, Cesar Augusto Pinheiro Ferreira Alves, et al.
Cerebellum (London, England)|January 26, 2022
Correction to: Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial DisordersJuan Sebastian Martin-Saavedra, Sara Reis Teixeira, Cesar Augusto Pinheiro Ferreira Alves, et al.
Radiographics : a Review Publication of the Radiological Society of North America, Inc|November 2, 2020
Primary Mitochondrial Disorders of the Pediatric Central Nervous System: Neuroimaging FindingsFabrício Guimarães Gonçalves, César Augusto Pinheiro Ferreira Alves, Beth Heuer, et al.
Molecular Genetics and Metabolism|October 1, 2022
Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial diseaseJohanna Elander, Elizabeth M McCormick, Maria Värendh, et al.
Circulation. Genomic and Precision Medicine|February 4, 2022
End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic <i>C1QBP</i> VariantsNicholas S Wilcox, Stuart B Prenner, Marisa Cevasco, et al.
Molecular Genetics and Metabolism|March 20, 2025
Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disordersAnthony C T Cheung, Erminia Di Pietro, Catherine Argyriou, et al.
Neurology|February 20, 2025
Adult-onset Leigh Syndrome: An analysis of the North American Mitochondrial Disease Consortium Database (P3-11.017)Emanuele Barca, Adam Kroopnick, Alexander Houck, et al.
Annals of Neurology|December 28, 2020
Reply to "Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations"Cesar Augusto Pinheiro Ferreira Alves, Sara Reis Teixeira, Juan Sebastian Martin-Saavedra, et al.
The American Journal of Pathology|November 22, 2022
iPSC-Derived Neurons from Patients with POLG Mutations Exhibit Decreased Mitochondrial Content and Dendrite SimplificationManish Verma, Lily Francis, Britney N Lizama, et al.
Annals of Neurology|May 24, 2020
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic CorrelationsCesar A P F Alves, Sara R Teixeira, Juan S Martin-Saavedra, et al.
Pageof 11