lafora disease/tremor

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Characterisation of Lafora-like bodies and other polyglucosan bodies in two aged dogs with neurological disease.

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Canine Lafora disease is a genetic disorder of carbohydrate metabolism characterised by neurological signs and accumulation of a type of polyglucosan body (PGB), the Lafora body (LB), in the brain and other organs. Normal canine ageing is associated with accumulation of PGBs in the brain, especially

Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel.

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The purpose of this prospective study was to identify the characteristics of pediatric recessive ataxias and the mutations leading to them.Eighty-four pediatric patients aged 0-18 years presenting to our clinic, evaluated by means of imaging, metabolic or

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