Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.
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Neurogenomics in Africa: Perspectives, progress, possibilities and prioritiesNovel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-SaguenayComputational analysis of a novel SACS gene mutation with BioExtract serverAutosomal recessive cerebellar ataxias.Purkinje Cell Degeneration and Motor Coordination Deficits in a New Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients.Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.Recent advances in hereditary spinocerebellar ataxias.Primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral sclerosis: discrete entities or spectrum?Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population.Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxiaSNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family.Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.New findings in the ataxia of Charlevoix-Saguenay.Thickening of peripapillar retinal fibers for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish ChildClinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay
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P2860
Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.
description
2003 nî lūn-bûn
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2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
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2003年學術文章
@zh-hant
name
Phenotypic features and geneti ...... l recessive ataxia in Tunisia.
@en
type
label
Phenotypic features and geneti ...... l recessive ataxia in Tunisia.
@en
prefLabel
Phenotypic features and geneti ...... l recessive ataxia in Tunisia.
@en
P2093
P1433
P1476
Phenotypic features and geneti ...... l recessive ataxia in Tunisia.
@en
P2093
Faycal Hentati
Ghada El Euch-Fayache
Ilhem Turki
Irfan Lalani
Karim Ouahchi
Rim Amouri
Samir Belal
Teepu Siddique
Wu-Yen Hung
P304
P356
10.1001/ARCHNEUR.60.7.982
P577
2003-07-01T00:00:00Z