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

Mary Kay Koenig

Showing results (51-60 of 82) with videos related to

Pageof 9
Sort By:
Neurology. Genetics|March 8, 2019
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophyBruce Nmezi, Elisa Giorgio, Raili Raininko, et al.
Epilepsia|April 20, 2022
A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndromePasquale Striano, Stéphane Auvin, Abigail Collins, et al.
Cell Metabolism|June 8, 2017
Cytochrome c Oxidase Activity Is a Metabolic Checkpoint that Regulates Cell Fate Decisions During T Cell Activation and DifferentiationTatyana N Tarasenko, Susan E Pacheco, Mary Kay Koenig, 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.
Annals of Clinical and Translational Neurology|July 30, 2019
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlationsJillian M Cameron, Snezana Maljevic, Umesh Nair, et al.
Journal of Medical Genetics|June 11, 2020
<i>NUBPL</i> mitochondrial disease: new patients and review of the genetic and clinical spectrumVirginia Kimonis, Rehab Al Dubaisi, Andrew E Maclean, et al.
Frontiers in Neurology|February 7, 2025
Long-term safety of dexamethasone sodium phosphate encapsulated in autologous erythrocytes in pediatric patients with ataxia telangiectasiaMary Kay Koenig, Vincenzo Leuzzi, Riadh Gouider, et al.
Annals of the Child Neurology Society|December 27, 2024
Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy resultsJamie K Capal, David M Ritter, David Neal Franz, et al.
Annals of Neurology|August 28, 2023
Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT TrialElizabeth Martina Bebin, Jurriaan M Peters, Brenda E Porter, et al.
Journal of Medical Genetics|January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisisSumit Parikh, Amel Karaa, Amy Goldstein, et al.
Pageof 9

Showing results (51-60 of 82) with videos related to

Sort By:
Pageof 9
Neurology. Genetics|March 8, 2019
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophyBruce Nmezi, Elisa Giorgio, Raili Raininko, et al.
Epilepsia|April 20, 2022
A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndromePasquale Striano, Stéphane Auvin, Abigail Collins, et al.
Cell Metabolism|June 8, 2017
Cytochrome c Oxidase Activity Is a Metabolic Checkpoint that Regulates Cell Fate Decisions During T Cell Activation and DifferentiationTatyana N Tarasenko, Susan E Pacheco, Mary Kay Koenig, 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.
Annals of Clinical and Translational Neurology|July 30, 2019
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlationsJillian M Cameron, Snezana Maljevic, Umesh Nair, et al.
Journal of Medical Genetics|June 11, 2020
<i>NUBPL</i> mitochondrial disease: new patients and review of the genetic and clinical spectrumVirginia Kimonis, Rehab Al Dubaisi, Andrew E Maclean, et al.
Frontiers in Neurology|February 7, 2025
Long-term safety of dexamethasone sodium phosphate encapsulated in autologous erythrocytes in pediatric patients with ataxia telangiectasiaMary Kay Koenig, Vincenzo Leuzzi, Riadh Gouider, et al.
Annals of the Child Neurology Society|December 27, 2024
Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy resultsJamie K Capal, David M Ritter, David Neal Franz, et al.
Annals of Neurology|August 28, 2023
Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT TrialElizabeth Martina Bebin, Jurriaan M Peters, Brenda E Porter, et al.
Journal of Medical Genetics|January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisisSumit Parikh, Amel Karaa, Amy Goldstein, et al.
Pageof 9