标题
Genetic ataxias: update on classification and diagnostic approaches
作者
关键词
-
出版物
Current Neurology and Neuroscience Reports
Volume 21, Issue 3, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2021-02-27
DOI
10.1007/s11910-021-01092-4
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Preimplantation genetic testing in assisted reproduction technology
- (2020) Farzaneh Fesahat et al. Journal of Gynecology Obstetrics and Human Reproduction
- Mitochondrial Disorders of the Nervous System: A Review
- (2019) Kallol K. Set et al. CLINICAL PEDIATRICS
- Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
- (2019) Andrea Cortese et al. NATURE GENETICS
- Clinical characteristics and possible drug targets in autosomal dominant spinocerebellar ataxias
- (2019) Laszlo Szpisjak et al. CNS & Neurological Disorders-Drug Targets
- Recent developments in genetic/genomic medicine
- (2019) Rachel H. Horton et al. CLINICAL SCIENCE
- Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7
- (2019) Giulia Coarelli et al. NEUROLOGY
- Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families
- (2019) Giovanna De Michele et al. PARKINSONISM & RELATED DISORDERS
- Mitochondrial DNA: Distribution, Mutations, and Elimination
- (2019) Yan et al. Cells
- A clinical diagnostic algorithm for early onset cerebellar ataxia
- (2019) R. Brandsma et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Pathogenesis of SCA3 and implications for other polyglutamine diseases
- (2019) Hayley S. McLoughlin et al. NEUROBIOLOGY OF DISEASE
- Development of an AAV-Based MicroRNA Gene Therapy to Treat Machado-Joseph Disease
- (2019) Raygene Martier et al. Molecular Therapy-Methods & Clinical Development
- Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes
- (2018) Miao Sun et al. GENETICS IN MEDICINE
- Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres
- (2018) Jon Infante et al. JOURNAL OF NEUROLOGY
- Fragile X-Associated Tremor/Ataxia Syndrome: Unmet Needs and a Path for the Future
- (2018) Deborah A. Hall et al. Frontiers in Genetics
- Spinocerebellar ataxias: prospects and challenges for therapy development
- (2018) Tetsuo Ashizawa et al. Nature Reviews Neurology
- POLG-related disorders and their neurological manifestations
- (2018) Shamima Rahman et al. Nature Reviews Neurology
- Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)
- (2018) David Genis et al. NEUROLOGY
- Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients
- (2016) M Hadjivassiliou et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning
- (2014) Hendriekje Eggink et al. Orphanet Journal of Rare Diseases
- Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions
- (2014) Iselin Marie Wedding et al. PLoS One
- Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation
- (2013) Martin Paucar et al. Prion
- Polymerase Gamma 1 Mutations
- (2010) Margherita Milone et al. NEUROLOGIST
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