hereditary spastic paraplegia

نتایج جستجو برای: hereditary spastic paraplegia

تعداد نتایج: 94252 فیلتر نتایج به سال:

Machado-Joseph disease versus hereditary spastic paraplegia: case report

Journal: :Arquivos de Neuro-Psiquiatria 2001

Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.

Journal: :Internal medicine 2013

Hiroshi Doi Chihiro Ohba Yoshinori Tsurusaki Satoko Miyatake Noriko Miyake Hirotomo Saitsu Yuko Kawamoto Tamaki Yoshida Shigeru Koyano Yume Suzuki Yoshiyuki Kuroiwa Fumiaki Tanaka Naomichi Matsumoto

Autosomal recessive cerebellar ataxias and autosomal recessive hereditary spastic paraplegias are clinically and genetically heterogeneous disorders with diverse neurological and non-neurological features. We herein describe a Japanese patient with a slowly progressive form of ataxia and spastic paraplegia. Using whole exome sequencing, we identified a novel homozygous frameshift mutation in SP...

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Machado-Joseph disease versus hereditary spastic paraplegia: case report

Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

Triple A syndrome presenting as complicated hereditary spastic paraplegia

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Normal Dopaminergic Nigrostriatal Innervation in SPG3A Hereditary Spastic Paraplegia

Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches

A case of hereditary spastic paraplegia with demyelinating polyneuropathy

MR Imaging Findings in Autosomal Recessive Hereditary Spastic Paraplegia

Naringenin Ameliorates Drosophila ReepA Hereditary Spastic Paraplegia-Linked Phenotypes