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Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected
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Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy
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FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications
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Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7
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BVES loss-of-function mutations in limb-girdle muscular dystrophy 2X with cardiac conduction disorders
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Database crossing allows better understanding of neuromuscular disorders epidemiology: the Belgian example
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- Journal Article
- A1
- open access
The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter
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Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders
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Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis
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Phenotypic spectrum in myopathies with tubular aggregates