Associated Papers
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.
Malfatti E et al.
Clinical Genetics, 2025
40000157 (PubMed )
Supplement: CGE-108-318-s003.docx
Health-related quality of life and fear of progression in individuals with Li-Fraumeni syndrome.
Kiermeier S et al.
Journal of Genetic Counseling, 2025
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K et al.
Brain : a Journal of Neurology, 2024
Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum.
Summa S et al.
Scientific Reports, 2023
Guidelines for genetic testing of muscle and neuromuscular junction disorders.
Nicolau S et al.
Muscle & Nerve, 2021
Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy.
Campbell T et al.
Human Mutation, 2021
The role of mitochondria in statin-induced myopathy.
Apostolopoulou M et al.
European Journal of Clinical Investigation, 2015
[A case of MELAS with G13513A mutation presenting with chronic kidney disease long before stroke-like episodes].
Motoda A et al.
Rinsho Shinkeigaku = Clinical Neurology, 2013
The 3-methylglutaconic acidurias: what's new?
Wortmann SB et al.
Journal of Inherited Metabolic Disease, 2012
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