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Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI
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De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
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Complex III deficiency due to a homozygous mutation in the nuclear encoded subunit UQCRQ
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The clinical heterogeneity of the NARS2 c.822G>C mutation clearly illustrated in two siblings : epilepsy and myopathy
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- Journal Article
- A1
- open access
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency
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- Journal Article
- A1
- open access
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C > T mutation in MTFMT
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- Journal Article
- A1
- open access
New insights into the phenotype of FARS2 deficiency
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Mild early epileptic encephalopathy evolving to spastic paraplegia, neurogenic bladder and generalized slow colon transit in an 18-year old patient with pathogenic mutations in FARS2
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Pathogenic mutations in FARS2 in a patient with motor regression and epilepsy as first signs, later evolving to spastic paraplegia associated with autonomic disturbances
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Subcomplexes of complex V in a patient with Perrault syndrome due to pathogenic mutations in C10orf2