نتایج جستجو برای: hereditary spastic paraplegia

تعداد نتایج: 94252  

2017
Mustafa Y. Ahmed Aisha Al-Khayat Fathiya Al-Murshedi Amna Al-Futaisi Barry A. Chioza J. Pedro Fernandez-Murray Jay E. Self Claire G. Salter Gaurav V. Harlalka Lettie E. Rawlins Sana Al-Zuhaibi Faisal Al-Azri Fatma Al-Rashdi Amaury Cazenave-Gassiot Markus R. Wenk Fatema Al-Salmi Michael A. Patton David L. Silver Emma L. Baple Christopher R. McMaster Andrew H. Crosby

Mutations in genes involved in lipid metabolism have increasingly been associated with various subtypes of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative motor neuron disorders characterized by spastic paraparesis. Here, we report an unusual autosomal recessive neurodegenerative condition, best classified as a complicated form of hereditary spastic paraplegia, ...

Journal: :Journal of Neurology, Neurosurgery & Psychiatry 1993

Journal: :Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 2007

Journal: :Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 2012

2014
Francesc Pérez-Brangulí Himanshu K. Mishra Iryna Prots Steven Havlicek Zacharias Kohl Domenica Saul Christine Rummel Jonatan Dorca-Arevalo Martin Regensburger Daniela Graef Elisabeth Sock Juan Blasi Teja W. Groemer Ursula Schlötzer-Schrehardt Jürgen Winkler Beate Winner

Hereditary spastic paraplegias are a group of inherited motor neuron diseases characterized by progressive paraparesis and spasticity. Mutations in the spastic paraplegia gene SPG11, encoding spatacsin, cause an autosomal-recessive disease trait; however, the precise knowledge about the role of spatacsin in neurons is very limited. We for the first time analyzed the expression and function of s...

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