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

W Sperl

Showing results (101-110 of 112) with videos related to

Pageof 12
Sort By:
European Journal of Pediatrics|December 1, 1990
Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathiesG C Korenke, H A Bentlage, W Ruitenbeek, et al.
Journal of Inherited Metabolic Disease|May 10, 2002
Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometryK Gempel, S Kiechl, S Hofmann, et al.
Nature Communications|November 21, 2025
ER protein CLCC1 promotes nuclear envelope fusion in herpesviral and host processesBing Dai, Adrian W Sperl, Lucas Polack, et al.
Plos Pathogens|February 5, 2026
Isolation and characterization of broadly-neutralizing anti-HCMV-gB antibodies from human donors using a prefusion-stabilized HCMV gB variantMaria K McClave, Yu-Hsin Wan, Ellen M White, et al.
Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde|August 3, 2021
[Molecular medicine: pathobiochemistry as the key to personalized treatment of inherited diseases]J A Mayr, R G Feichtinger, M T Achleitner, et al.
Neuromuscular Disorders : NMD|October 21, 2006
Deficiency of mitochondrial ATP synthase of nuclear genetic originW Sperl, P Jesina, J Zeman, et al.
Journal of Inherited Metabolic Disease|November 20, 2009
PDH E1β deficiency with novel mutations in two patients with Leigh syndromeE Quintana, J A Mayr, M T García Silva, et al.
Molecular Genetics and Metabolism Reports|May 5, 2016
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencingE Ciara, D Rokicki, P Halat, et al.
Hepatology (Baltimore, Md.)|August 1, 1996
Current therapy for Crigler-Najjar syndrome type 1: report of a world registryC N van der Veere, M Sinaasappel, A F McDonagh, et al.
Journal of Inherited Metabolic Disease|May 31, 2012
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 casesS Koene, R J Rodenburg, M S van der Knaap, et al.
Pageof 12

Showing results (101-110 of 112) with videos related to

Sort By:
Pageof 12
European Journal of Pediatrics|December 1, 1990
Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathiesG C Korenke, H A Bentlage, W Ruitenbeek, et al.
Journal of Inherited Metabolic Disease|May 10, 2002
Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometryK Gempel, S Kiechl, S Hofmann, et al.
Nature Communications|November 21, 2025
ER protein CLCC1 promotes nuclear envelope fusion in herpesviral and host processesBing Dai, Adrian W Sperl, Lucas Polack, et al.
Plos Pathogens|February 5, 2026
Isolation and characterization of broadly-neutralizing anti-HCMV-gB antibodies from human donors using a prefusion-stabilized HCMV gB variantMaria K McClave, Yu-Hsin Wan, Ellen M White, et al.
Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde|August 3, 2021
[Molecular medicine: pathobiochemistry as the key to personalized treatment of inherited diseases]J A Mayr, R G Feichtinger, M T Achleitner, et al.
Neuromuscular Disorders : NMD|October 21, 2006
Deficiency of mitochondrial ATP synthase of nuclear genetic originW Sperl, P Jesina, J Zeman, et al.
Journal of Inherited Metabolic Disease|November 20, 2009
PDH E1β deficiency with novel mutations in two patients with Leigh syndromeE Quintana, J A Mayr, M T García Silva, et al.
Molecular Genetics and Metabolism Reports|May 5, 2016
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencingE Ciara, D Rokicki, P Halat, et al.
Hepatology (Baltimore, Md.)|August 1, 1996
Current therapy for Crigler-Najjar syndrome type 1: report of a world registryC N van der Veere, M Sinaasappel, A F McDonagh, et al.
Journal of Inherited Metabolic Disease|May 31, 2012
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 casesS Koene, R J Rodenburg, M S van der Knaap, et al.
Pageof 12