دانلود مقالات ISI درباره Thin Corpus Callosum + ترجمه فارسی

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia

Keywords: AD; autosomal dominant; AOA1; ataxia with oculomotor apraxia type 1; AR; autosomal recessive; ARCA; autosomal recessive cerebellar ataxia; ATM; ataxia talengiectasia; FA; Friedreich ataxia; GBA2; b-glucosidase 2; HSPs; hereditary spastic paraplegias; NGS;

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2018 سفارش ترجمه

Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11

Keywords: Hereditary spastic paraplegia; Targeted NGS; Thin corpus callosum; Diagnosis; SPG11

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2015 سفارش ترجمه

Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes

Keywords: Ataxia; Exome sequencing; Hereditary spastic paraplegia; SPG11; Thin corpus callosum

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2015 سفارش ترجمه

Novel mutations c.[5121_5122insAG]+[6859C>T] of the SPG11 gene associated with cerebellum hypometabolism in a Chinese case of hereditary spastic paraplegia with thin corpus callosum

Keywords: Hereditary spastic paraplegia; Thin corpus callosum; SPG11; Mutation; Cerebella hypometabolism;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2014 سفارش ترجمه

Novel SPG11 mutations in Chinese families with hereditary spastic paraplegia with thin corpus callosum

Keywords: Hereditary spastic paraplegia; Thin corpus callosum; SPG11; Diffusion tensor imaging; Neuropsychological assessment;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2013 سفارش ترجمه

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

Keywords: ACP33; Maspardin gene; AD; Autosomal dominant; ALS; Amyotrophic lateral sclerosis; AP; Adaptor Protein complex; AR; Autosomal recessive; ATL1; Atlastin-1 gene; BMP; Bone morphogenic protein; BSCL2; Berardinelli-Seip congenital lipodystrophy gene; CYP7B1;

دانلود رایگان متن کامل مقاله ISI 18 صفحه سال انتشار : 2012 سفارش ترجمه

A new locus (SPG47) maps to 1p13.2–1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum

Keywords: Hereditary spastic paraplegia; Thin corpus callosum; White matter; Locus

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2011 سفارش ترجمه

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum

Keywords: Hereditary spastic paraparesis; Thin corpus callosum; SPG11; Spatacsin; Linkage analysis; Autosomal recessive

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2011 سفارش ترجمه

Diffusion tensor imaging of two unrelated Chinese men with hereditary spastic paraplegia associated with thin corpus callosum

Keywords: Hereditary spastic paraplegia; Thin corpus callosum; Diffusion tensor imaging (DTI); Mean diffusion (MD); Fractional anisotropy (FA); Voxel-based analysis (VBA)

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2008 سفارش ترجمه

Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum

Keywords: Spastic paraplegia; SPG11; Thin corpus callosum; Mental retardation

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2008 سفارش ترجمه