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Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Archive ouverte | Roux, Thomas | CCSD

International audience. Purpose: Pathogenic variants in STUB1 were initially described in autosomal recessive spinocerebellar ataxia type 16 and dominant cerebellar ataxia with cerebellar cognitive dysfunction (SCA4...

High glucose repatterns human podocyte energy metabolism during differentiation and diabetic nephropathy

Archive ouverte | Imasawa, Toshiyuki | CCSD

International audience

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5

Archive ouverte | Marelli, Cecilia | CCSD

IF 10.292. International audience. The hereditary spastic paraplegias are an expanding and heterogeneous group of disorders characterized by spasticity in the lower limbs. Plasma biomarkers are needed to guide the g...

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