نتایج جستجو برای: spastic paraplegia

تعداد نتایج: 11676  

Journal: :Annals of Clinical and Translational Neurology 2017

Journal: :The Journal of Nervous and Mental Disease 1921

Journal: :Journal of Neurology, Neurosurgery & Psychiatry 1950

Journal: :Journal of child neurology 2013
Rosemarie Rupps Juliette Hukin Martha Balicki Saadet Mercimek-Mahmutoglu Arndt Rolfs Cristina Dias

Hereditary spastic paraplegias and related genetically heterogeneous disorders may be difficult to distinguish clinically. The FA2H gene has been associated with autosomal recessive neurodegenerative phenotypes encompassing spastic paraplegia with or without dystonia, and demyelinating leukodystrophy. To date, few individuals with mutations in the FA2H gene have been described. We report a 5-ye...

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