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- Journal Article
- A1
- open access
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective?
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- Journal Article
- A1
- open access
New insights into the phenotype of FARS2 deficiency
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How robust is ACTIVLIM for the follow-up of activity limitations in patients with neuromuscular diseases?
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Ultrastructural mitochondrial alterations in equine myopathies of unknown origin
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- Journal Article
- A1
- open access
Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR)
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A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms
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Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome
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Expanding CEP290 mutational spectrum in ciliopathies
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Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects
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Abdominal pain and vomiting as first sign of mitochondrial disease