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

Kristin Engelstad

Showing results (41-50 of 47) with videos related to

Pageof 5
Sort By:
You have reached the last page of results.This site can display upto 47 results.
Annals of Clinical and Translational Neurology|March 31, 2023
Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndromeNaeimeh Tayebi, Brian Leon-Ricardo, Kevin McCall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 19, 2020
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophyDenise M Kay, Colleen F Stevens, April Parker, et al.
The Journal of Clinical Investigation|January 19, 2021
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severityRohit Sharma, Bryn Reinstadler, Kristin Engelstad, et al.
Biorxiv : the Preprint Server for Biology|February 23, 2026
4,5-dihydroxyhexanoic acid is a robust circulating and urine marker of mitochondrial disease and its severityOwen S Skinner, Maria Miranda, Fangcong Dong, et al.
Neurology|July 14, 2022
Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 YearsBo Hoon Lee, Stella Deng, Claudia A Chiriboga, et al.
Epilepsia Open|September 11, 2020
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study groupJoerg Klepper, Cigdem Akman, Marisa Armeno, et al.
Neurology. Genetics|April 28, 2020
Mitochondrial diseases in North America: An analysis of the NAMDC RegistryEmanuele Barca, Yuelin Long, Victoria Cooley, et al.
Pageof 5

Showing results (41-50 of 47) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 47 results.
Annals of Clinical and Translational Neurology|March 31, 2023
Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndromeNaeimeh Tayebi, Brian Leon-Ricardo, Kevin McCall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 19, 2020
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophyDenise M Kay, Colleen F Stevens, April Parker, et al.
The Journal of Clinical Investigation|January 19, 2021
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severityRohit Sharma, Bryn Reinstadler, Kristin Engelstad, et al.
Biorxiv : the Preprint Server for Biology|February 23, 2026
4,5-dihydroxyhexanoic acid is a robust circulating and urine marker of mitochondrial disease and its severityOwen S Skinner, Maria Miranda, Fangcong Dong, et al.
Neurology|July 14, 2022
Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 YearsBo Hoon Lee, Stella Deng, Claudia A Chiriboga, et al.
Epilepsia Open|September 11, 2020
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study groupJoerg Klepper, Cigdem Akman, Marisa Armeno, et al.
Neurology. Genetics|April 28, 2020
Mitochondrial diseases in North America: An analysis of the NAMDC RegistryEmanuele Barca, Yuelin Long, Victoria Cooley, et al.
Pageof 5