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Sabine Weller

Showing results (1-10 of 11) with videos related to

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Annual Review of Genomics and Human Genetics|October 7, 2003
Peroxisome biogenesis disordersSabine Weller, Stephen J Gould, David Valle
Molecular Genetics and Metabolism|November 18, 2023
Newborn screening for adrenoleukodystrophy: International experiences and challengesCecilie Videbæk, Lars Melgaard, Allan M Lund, et al.
Journal of Neuroscience Research|April 23, 2025
A Novel Mutation in CNTNAP1 Gene Causes Disorganization of Axonal Domains, Hypomyelination and Severe Neurological DeficitsLacey B Sell, Carson Zabel, Sabine Weller Grønborg, et al.
American Journal of Human Genetics|April 29, 2005
Alternative splicing suggests extended function of PEX26 in peroxisome biogenesisSabine Weller, Ivelisse Cajigas, James Morrell, et al.
Molecular Genetics and Metabolism Reports|June 30, 2026
Arimoclomol in infants with Niemann-Pick disease type C: Results from the phase 2/3 open-label pediatric substudyEugen Mengel, Laila Arash-Kaps, Stephanie Grunewald, et al.
Metabolomics : Official Journal of the Metabolomic Society|July 27, 2025
A diagnostic algorithm for inherited metabolic disorders using untargeted metabolomicsQian Gao, Adnan Khan, Mette Christensen, et al.
Molecular Genetics and Metabolism|September 14, 2023
X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable diseaseMalene Mejdahl Nielsen, Esben Thade Petersen, Christina Dühring Fenger, et al.
Molecular Genetics and Metabolism|July 15, 2025
Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trialEugen Mengel, Rosalia M Da Riol, Mireia Del Toro, et al.
Molecular Genetics and Metabolism Reports|June 16, 2025
Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity ScaleEugen Mengel, Marc C Patterson, Rosalia M Da Riol, et al.
Neurology|June 27, 2025
Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research DirectionsMarije A B C Asbreuk, Daphne H Schoenmakers, Laura Ann Adang, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Annual Review of Genomics and Human Genetics|October 7, 2003
Peroxisome biogenesis disordersSabine Weller, Stephen J Gould, David Valle
Molecular Genetics and Metabolism|November 18, 2023
Newborn screening for adrenoleukodystrophy: International experiences and challengesCecilie Videbæk, Lars Melgaard, Allan M Lund, et al.
Journal of Neuroscience Research|April 23, 2025
A Novel Mutation in CNTNAP1 Gene Causes Disorganization of Axonal Domains, Hypomyelination and Severe Neurological DeficitsLacey B Sell, Carson Zabel, Sabine Weller Grønborg, et al.
American Journal of Human Genetics|April 29, 2005
Alternative splicing suggests extended function of PEX26 in peroxisome biogenesisSabine Weller, Ivelisse Cajigas, James Morrell, et al.
Molecular Genetics and Metabolism Reports|June 30, 2026
Arimoclomol in infants with Niemann-Pick disease type C: Results from the phase 2/3 open-label pediatric substudyEugen Mengel, Laila Arash-Kaps, Stephanie Grunewald, et al.
Metabolomics : Official Journal of the Metabolomic Society|July 27, 2025
A diagnostic algorithm for inherited metabolic disorders using untargeted metabolomicsQian Gao, Adnan Khan, Mette Christensen, et al.
Molecular Genetics and Metabolism|September 14, 2023
X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable diseaseMalene Mejdahl Nielsen, Esben Thade Petersen, Christina Dühring Fenger, et al.
Molecular Genetics and Metabolism|July 15, 2025
Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trialEugen Mengel, Rosalia M Da Riol, Mireia Del Toro, et al.
Molecular Genetics and Metabolism Reports|June 16, 2025
Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity ScaleEugen Mengel, Marc C Patterson, Rosalia M Da Riol, et al.
Neurology|June 27, 2025
Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research DirectionsMarije A B C Asbreuk, Daphne H Schoenmakers, Laura Ann Adang, et al.
Pageof 2