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Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
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Lambert-Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication
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Hypocretin-1 deficiency in a girl with ROHHAD syndrome
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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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Cyclic vomiting syndrome: case report and short review of the literature
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A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome
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Vagus nerve stimulation for refractory status epilepticus
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Abdominal pain and vomiting as first sign of mitochondrial disease
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Sensory contributions to balance in boys with developmental coordination disorder
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Hippocampal atrophy and developmental regression as first sign of linear scleroderma "en coup de sabre"
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Retrospective study of topiramate in a paediatric population with intractable epilepsy showing promising effects in the West syndrome patients