Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Shamima Rahman

Showing results (151-160 of 182) with videos related to

Pageof 19
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2022
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalitiesElla F Whittle, Madison Chilian, Ehsan Ghayoor Karimiani, et al.
Orphanet Journal of Rare Diseases|January 27, 2016
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference NetworksCarla E M Hollak, Marieke Biegstraaten, Matthias R Baumgartner, et al.
Journal of Inherited Metabolic Disease|March 18, 2015
Erratum to: TMEM70 deficiency: long-term outcome of 48 patientsMartin Magner, Veronika Dvorakova, Marketa Tesarova, et al.
European Journal of Neurology|April 5, 2024
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working GroupMichelangelo Mancuso, Maria T Papadopoulou, Yi Shiau Ng, et al.
JAMA Neurology|October 9, 2013
COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthoodRobert D S Pitceathly, Jan-Willem Taanman, Shamima Rahman, et al.
Journal of Medical Genetics|January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisisSumit Parikh, Amel Karaa, Amy Goldstein, et al.
Journal of Inherited Metabolic Disease|November 15, 2025
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 PatientsErle Kristensen, Karin Naess, Martin Engvall, et al.
Journal of Inherited Metabolic Disease|October 19, 2014
TMEM70 deficiency: long-term outcome of 48 patientsMartin Magner, Veronika Dvorakova, Marketa Tesarova, et al.
European Journal of Neurology|April 18, 2026
Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based StatementsMichelangelo Mancuso, Marcello Bellusci, Valerio Carelli, et al.
Neurology|August 31, 2012
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth diseaseRobert D S Pitceathly, Sinéad M Murphy, Ellen Cottenie, et al.
Pageof 19

Showing results (151-160 of 182) with videos related to

Sort By:
Pageof 19
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2022
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalitiesElla F Whittle, Madison Chilian, Ehsan Ghayoor Karimiani, et al.
Orphanet Journal of Rare Diseases|January 27, 2016
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference NetworksCarla E M Hollak, Marieke Biegstraaten, Matthias R Baumgartner, et al.
Journal of Inherited Metabolic Disease|March 18, 2015
Erratum to: TMEM70 deficiency: long-term outcome of 48 patientsMartin Magner, Veronika Dvorakova, Marketa Tesarova, et al.
European Journal of Neurology|April 5, 2024
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working GroupMichelangelo Mancuso, Maria T Papadopoulou, Yi Shiau Ng, et al.
JAMA Neurology|October 9, 2013
COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthoodRobert D S Pitceathly, Jan-Willem Taanman, Shamima Rahman, et al.
Journal of Medical Genetics|January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisisSumit Parikh, Amel Karaa, Amy Goldstein, et al.
Journal of Inherited Metabolic Disease|November 15, 2025
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 PatientsErle Kristensen, Karin Naess, Martin Engvall, et al.
Journal of Inherited Metabolic Disease|October 19, 2014
TMEM70 deficiency: long-term outcome of 48 patientsMartin Magner, Veronika Dvorakova, Marketa Tesarova, et al.
European Journal of Neurology|April 18, 2026
Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based StatementsMichelangelo Mancuso, Marcello Bellusci, Valerio Carelli, et al.
Neurology|August 31, 2012
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth diseaseRobert D S Pitceathly, Sinéad M Murphy, Ellen Cottenie, et al.
Pageof 19