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Carola Hedberg-Oldfors

Showing results (1-10 of 55) with videos related to

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Molecular Aspects of Medicine|August 18, 2015
Polyglucosan storage myopathiesCarola Hedberg-Oldfors, Anders Oldfors
Neurology. Genetics|August 2, 2018
Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophyCarola Hedberg-Oldfors, Christopher Lindberg, Anders Oldfors
Neuromuscular Disorders : NMD|June 19, 2017
Muscle pathology in Vici syndrome-A case study with a novel mutation in EPG5 and a summary of the literatureCarola Hedberg-Oldfors, Niklas Darin, Anders Oldfors
American Journal of Medical Genetics. Part A|February 12, 2016
Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentationAlexandra Topa, Mar Tulinius, Anders Oldfors, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|October 29, 2024
Abnormal expression of myosin heavy chains in early postnatal stages of spinal muscular atrophy type I at single fibre levelCarola Hedberg-Oldfors, Elizabeth Jennions, Kittichate Visuttijai, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 17, 2021
The phenotypic variability and natural history of NARS2 associated diseaseKalliopi Sofou, Gittan Kollberg, Carola Hedberg-Oldfors, et al.
Neurology. Genetics|July 9, 2020
COX deficiency and leukoencephalopathy due to a novel homozygous <i>APOPT1/COA8</i> mutationCarola Hedberg-Oldfors, Niklas Darin, Christer Thomsen, et al.
Journal of Neurology|July 27, 2023
Inclusion body myositis with early onset: a population-based studyUlrika Lindgren, Carola Hedberg-Oldfors, Rille Pullerits, et al.
BMC Neurology|November 15, 2022
Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2Carola Hedberg-Oldfors, Ólöf Elíasdóttir, Mats Geijer, et al.
Neuromuscular Disorders : NMD|June 18, 2017
Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic maleCarola Hedberg-Oldfors, Kittichate Visuttijai, Alexandra Topa, et al.
Pageof 6

Showing results (1-10 of 55) with videos related to

Sort By:
Pageof 6
Molecular Aspects of Medicine|August 18, 2015
Polyglucosan storage myopathiesCarola Hedberg-Oldfors, Anders Oldfors
Neurology. Genetics|August 2, 2018
Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophyCarola Hedberg-Oldfors, Christopher Lindberg, Anders Oldfors
Neuromuscular Disorders : NMD|June 19, 2017
Muscle pathology in Vici syndrome-A case study with a novel mutation in EPG5 and a summary of the literatureCarola Hedberg-Oldfors, Niklas Darin, Anders Oldfors
American Journal of Medical Genetics. Part A|February 12, 2016
Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentationAlexandra Topa, Mar Tulinius, Anders Oldfors, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|October 29, 2024
Abnormal expression of myosin heavy chains in early postnatal stages of spinal muscular atrophy type I at single fibre levelCarola Hedberg-Oldfors, Elizabeth Jennions, Kittichate Visuttijai, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 17, 2021
The phenotypic variability and natural history of NARS2 associated diseaseKalliopi Sofou, Gittan Kollberg, Carola Hedberg-Oldfors, et al.
Neurology. Genetics|July 9, 2020
COX deficiency and leukoencephalopathy due to a novel homozygous <i>APOPT1/COA8</i> mutationCarola Hedberg-Oldfors, Niklas Darin, Christer Thomsen, et al.
Journal of Neurology|July 27, 2023
Inclusion body myositis with early onset: a population-based studyUlrika Lindgren, Carola Hedberg-Oldfors, Rille Pullerits, et al.
BMC Neurology|November 15, 2022
Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2Carola Hedberg-Oldfors, Ólöf Elíasdóttir, Mats Geijer, et al.
Neuromuscular Disorders : NMD|June 18, 2017
Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic maleCarola Hedberg-Oldfors, Kittichate Visuttijai, Alexandra Topa, et al.
Pageof 6