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Neuromuscular Disorders : NMD|January 16, 2019
Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutationsEva Michael, Carola Hedberg-Oldfors, Philip Wilmar, et al.
European Journal of Human Genetics : EJHG|February 28, 2018
γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1Niklas Darin, Karin Leckström, Per Sikora, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 7, 2021
Endocrine and metabolic aspects of narcolepsy type 1 in childrenAttila Szakács, Jovanna Dahlgren, Jannie Eklund, et al.
Annals of Neurology|October 29, 2025
Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western SwedenEva Michael, Carola Hedberg-Oldfors, Mar Tulinius, et al.
Child: Care, Health and Development|March 2, 2022
Parental experiences of having a child with CLN3 disease (juvenile Batten disease) and how these experiences relate to family resilienceMattias Krantz, Emma Malm, Niklas Darin, et al.
European Journal of Human Genetics : EJHG|March 3, 2005
Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2)Homa Tajsharghi, Niklas Darin, Elham Rekabdar, et al.
Mitochondrion|July 14, 2018
Cerebrospinal fluid neurofilament light is associated with survival in mitochondrial disease patientsKalliopi Sofou, Pashtun Shahim, Már Tulinius, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 4, 2019
A population-based and case-controlled study of children and adolescents with narcolepsy: Health-related quality of life, adaptive behavior and parental stressAttila Szakács, John Eric Chaplin, Pontus Tideman, et al.
Molecular Genetics and Metabolism|October 3, 2002
Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefitsVanna Geromel, Niklas Darin, Dominique Chrétien, et al.
Brain : a Journal of Neurology|July 2, 2009
Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathyGittan Kollberg, Már Tulinius, Atle Melberg, et al.
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