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Journal of the Neurological Sciences
|
April 20, 2024
Novel findings in a Swedish primary familial brain calcification cohort
Stefan Sennfält, Peter Gustavsson, Helena Malmgren, et al.
Neurology. Genetics
|
March 18, 2021
Novel Mutation m.10372A>G in <i>MT-ND3</i> Causing Sensorimotor Axonal Polyneuropathy
Helene Bruhn, Kristin Samuelsson, Florian A Schober, et al.
Epilepsia
|
June 20, 2018
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications
Omar Hikmat, Karin Naess, Martin Engvall, et al.
International Journal of Neonatal Screening
|
September 22, 2025
Next-Generation Sequencing in the Diagnostic Workup of Neonatal Dried Blood Spot Screening in Sweden 2015-2023
Lene Sörensen, Jorge Asin-Cayuela, Michela Barbaro, et al.
JAMA Network Open
|
April 4, 2024
Functional Limitations and Exercise Intolerance in Patients With Post-COVID Condition: A Randomized Crossover Clinical Trial
Andrea Tryfonos, Kaveh Pourhamidi, Gustav Jörnåker, et al.
Journal of Medical Genetics
|
December 7, 2021
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study
Kristoffer Björkman, John Vissing, Elsebet Østergaard, 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 cases
Omar Hikmat, Karin Naess, Martin Engvall, et al.
Journal of Internal Medicine
|
July 8, 2024
Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs
Martin Paucar, Daniel Nilsson, Martin Engvall, et al.
Annals of Clinical and Translational Neurology
|
September 19, 2020
The impact of gender, puberty, and pregnancy in patients with POLG disease
Omar Hikmat, Karin Naess, Martin Engvall, et al.
Journal of Medical Genetics
|
June 19, 2015
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid
Christoph Freyer, Henrik Stranneheim, Karin Naess, et al.
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of 5
Search research articles
Search
Showing results (21-30 of 44) with videos related to
Sort By:
Page
of 5
Journal of the Neurological Sciences
|
April 20, 2024
Novel findings in a Swedish primary familial brain calcification cohort
Stefan Sennfält, Peter Gustavsson, Helena Malmgren, et al.
Neurology. Genetics
|
March 18, 2021
Novel Mutation m.10372A>G in <i>MT-ND3</i> Causing Sensorimotor Axonal Polyneuropathy
Helene Bruhn, Kristin Samuelsson, Florian A Schober, et al.
Epilepsia
|
June 20, 2018
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications
Omar Hikmat, Karin Naess, Martin Engvall, et al.
International Journal of Neonatal Screening
|
September 22, 2025
Next-Generation Sequencing in the Diagnostic Workup of Neonatal Dried Blood Spot Screening in Sweden 2015-2023
Lene Sörensen, Jorge Asin-Cayuela, Michela Barbaro, et al.
JAMA Network Open
|
April 4, 2024
Functional Limitations and Exercise Intolerance in Patients With Post-COVID Condition: A Randomized Crossover Clinical Trial
Andrea Tryfonos, Kaveh Pourhamidi, Gustav Jörnåker, et al.
Journal of Medical Genetics
|
December 7, 2021
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study
Kristoffer Björkman, John Vissing, Elsebet Østergaard, 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 cases
Omar Hikmat, Karin Naess, Martin Engvall, et al.
Journal of Internal Medicine
|
July 8, 2024
Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs
Martin Paucar, Daniel Nilsson, Martin Engvall, et al.
Annals of Clinical and Translational Neurology
|
September 19, 2020
The impact of gender, puberty, and pregnancy in patients with POLG disease
Omar Hikmat, Karin Naess, Martin Engvall, et al.
Journal of Medical Genetics
|
June 19, 2015
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid
Christoph Freyer, Henrik Stranneheim, Karin Naess, et al.
Page
of 5