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paraplégie spasmodique familiale

hereditary spastic paraplegia

santé - iate.europa.eu

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Loss of strumpellin in the melanocytic lineage impairs the wash complex but does not affect coat colour... We explored the role of strumpellin, which has previously been linked to hereditary spastic paraplegia, in the mouse melanocytic lineage....

santé - core.ac.uk - PDF: eprints.gla.ac.uk

Publications scientifiques

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Machado-joseph disease versus hereditary spastic paraplegia: case report... We report the case of 41-year-old woman with the phenotype of complicated hereditary spastic paraplegia....

activité agricole / santé - core.ac.uk - PDF: doaj.org

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Gait evolution in a family with hereditary spastic paraplegiaThe degree of disability in patients with hereditary spastic paraplegia has been reported variable even in members of the same family (same gene mutation)....

général - core.ac.uk - PDF: archive-ouverte.unige.ch

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Pathophysiology, diagnostic work-up and management of balance impairments and falls in patients with hereditary spastic paraplegiaINTRODUCTION: Balance impairments are common in patients with hereditary spastic paraplegia and are among the most debilitating symptoms, as they frequently result in falls and fall-related injuries....

général - core.ac.uk - PDF: www.loc.gov

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Generation of induced pluripotent stem cells (ipscs) from a hereditary spastic paraplegia patient carrying a homozygous y275x mutation in cyp7b1 (spg5) AbstractSkin fibroblasts were obtained from a 47-year-old hereditary spastic paraplegia patient carrying a homozygous mutation Y275X in CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1), responsible for causing hereditary...

général - core.ac.uk -