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Advanced Genetics (Hoboken, N.J.)
|
March 23, 2022
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease
Amel Karaa, Laura E MacMullen, John C Campbell, et al.
Molecular Genetics and Metabolism
|
May 23, 2022
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)
Valentina Emmanuele, Jaya Ganesh, Georgirene Vladutiu, et al.
Neurology
|
May 14, 2020
Quality improvement in neurology: Neurology Outcomes Quality Measurement Set
Jason J Sico, Aarti Sarwal, Sarah M Benish, et al.
Neurology
|
January 4, 2020
Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial
Karen L Madsen, Astrid E Buch, Bruce H Cohen, et al.
The New England Journal of Medicine
|
February 23, 2007
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome
J Travis Hinson, Valeria R Fantin, Jost Schönberger, et al.
Journal of Inherited Metabolic Disease
|
October 6, 2017
Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project
Amel Karaa, Shamima Rahman, Anne Lombès, 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 Society
Sumit 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 project
Amel Karaa, Shamima Rahman, Anne Lombès, et al.
Human Mutation
|
June 12, 2008
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
Lee-Jun C Wong, Robert K Naviaux, Nicola Brunetti-Pierri, et al.
Journal of Medical Genetics
|
January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisis
Sumit Parikh, Amel Karaa, Amy Goldstein, et al.
Page
of 9
Search research articles
Search
Showing results (61-70 of 81) with videos related to
Sort By:
Page
of 9
Advanced Genetics (Hoboken, N.J.)
|
March 23, 2022
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease
Amel Karaa, Laura E MacMullen, John C Campbell, et al.
Molecular Genetics and Metabolism
|
May 23, 2022
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)
Valentina Emmanuele, Jaya Ganesh, Georgirene Vladutiu, et al.
Neurology
|
May 14, 2020
Quality improvement in neurology: Neurology Outcomes Quality Measurement Set
Jason J Sico, Aarti Sarwal, Sarah M Benish, et al.
Neurology
|
January 4, 2020
Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial
Karen L Madsen, Astrid E Buch, Bruce H Cohen, et al.
The New England Journal of Medicine
|
February 23, 2007
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome
J Travis Hinson, Valeria R Fantin, Jost Schönberger, et al.
Journal of Inherited Metabolic Disease
|
October 6, 2017
Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project
Amel Karaa, Shamima Rahman, Anne Lombès, 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 Society
Sumit 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 project
Amel Karaa, Shamima Rahman, Anne Lombès, et al.
Human Mutation
|
June 12, 2008
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
Lee-Jun C Wong, Robert K Naviaux, Nicola Brunetti-Pierri, et al.
Journal of Medical Genetics
|
January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisis
Sumit Parikh, Amel Karaa, Amy Goldstein, et al.
Page
of 9