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Magnhild Rasmussen

Showing results (31-40 of 47) with videos related to

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Neuromuscular Disorders : NMD|December 15, 2022
Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)Synnøve M Jensen, Kai Ivar Müller, Svein Ivar Mellgren, et al.
Epilepsia|June 20, 2018
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implicationsOmar Hikmat, Karin Naess, Martin Engvall, et al.
European Journal of Medical Genetics|May 17, 2016
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13Tuva Barøy, Christeen Ramane J Pedurupillay, Yngve T Bliksrud, et al.
Journal of Inherited Metabolic Disease|May 12, 2020
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 casesOmar Hikmat, Karin Naess, Martin Engvall, et al.
Annals of Clinical and Translational Neurology|September 19, 2020
The impact of gender, puberty, and pregnancy in patients with POLG diseaseOmar Hikmat, Karin Naess, Martin Engvall, et al.
Journal of Neurology|June 1, 2024
Status epilepticus in POLG disease: a large multinational studyOmar Hikmat, Karin Naess, Martin Engvall, 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.
Brain : a Journal of Neurology|March 2, 2013
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutationLysa Boissé Lomax, Marta A Bayly, Helle Hjalgrim, et al.
Journal of Inherited Metabolic Disease|October 18, 2015
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patientsRosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen, et al.
Brain : a Journal of Neurology|December 25, 2015
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathyIrina T Zaharieva, Michael G Thor, Emily C Oates, et al.
Pageof 5

Showing results (31-40 of 47) with videos related to

Sort By:
Pageof 5
Neuromuscular Disorders : NMD|December 15, 2022
Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)Synnøve M Jensen, Kai Ivar Müller, Svein Ivar Mellgren, et al.
Epilepsia|June 20, 2018
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implicationsOmar Hikmat, Karin Naess, Martin Engvall, et al.
European Journal of Medical Genetics|May 17, 2016
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13Tuva Barøy, Christeen Ramane J Pedurupillay, Yngve T Bliksrud, et al.
Journal of Inherited Metabolic Disease|May 12, 2020
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 casesOmar Hikmat, Karin Naess, Martin Engvall, et al.
Annals of Clinical and Translational Neurology|September 19, 2020
The impact of gender, puberty, and pregnancy in patients with POLG diseaseOmar Hikmat, Karin Naess, Martin Engvall, et al.
Journal of Neurology|June 1, 2024
Status epilepticus in POLG disease: a large multinational studyOmar Hikmat, Karin Naess, Martin Engvall, 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.
Brain : a Journal of Neurology|March 2, 2013
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutationLysa Boissé Lomax, Marta A Bayly, Helle Hjalgrim, et al.
Journal of Inherited Metabolic Disease|October 18, 2015
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patientsRosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen, et al.
Brain : a Journal of Neurology|December 25, 2015
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathyIrina T Zaharieva, Michael G Thor, Emily C Oates, et al.
Pageof 5