Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia
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Title
Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia
Authors
Keywords
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Journal
Scientific Reports
Volume 9, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2019-10-08
DOI
10.1038/s41598-019-50911-9
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Note: Only part of the references are listed.- Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients
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- Truncating mutations inSPASTpatients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia
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- Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis
- (2017) Guo-hua Zhao et al. Translational Neurodegeneration
- Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients
- (2016) Rebecca Schüle et al. ANNALS OF NEUROLOGY
- Genetic background of the hereditary spastic paraplegia phenotypes in Hungary — An analysis of 58 probands
- (2016) Peter Balicza et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia
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- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients
- (2015) Ewelina Elert-Dobkowska et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting
- (2015) S. Klebe et al. REVUE NEUROLOGIQUE
- The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles
- (2014) Philip M. Boone et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms
- (2014) Temistocle Lo Giudice et al. EXPERIMENTAL NEUROLOGY
- Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses
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- (2014) Yingying Luo et al. Neurodegenerative Diseases
- Autosomal Dominant Spastic Paraplegias
- (2013) José Leal Loureiro et al. JAMA Neurology
- SPASTmutations in Australian patients with hereditary spastic paraplegia
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