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。Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients
M. Hadjivassiliou et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2017)
Overcoming the Divide Between Ataxias and Spastic Paraplegias: Shared Phenotypes, Genes, and Pathways
Matthis Synofzik et al.
MOVEMENT DISORDERS (2017)
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
Zafar Iqbal et al.
PLOS ONE (2017)
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies
Marie Coutelier et al.
BRAIN (2017)
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study
Matthis Synofzik et al.
BRAIN (2016)
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders
Bart P. van De Warrenburg et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
Clinical sequencing: is WGS the better WES?
Janine Meienberg et al.
HUMAN GENETICS (2016)
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias
Cecilia Marelli et al.
HUMAN MUTATION (2016)
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases
Martial Mallaret et al.
JOURNAL OF NEUROLOGY (2016)
Advances in Sequencing Technologies for Understanding Hereditary Ataxias A Review
Alessandro Didonna et al.
JAMA NEUROLOGY (2016)
Understanding Genotypes and Phenotypes in Epileptic Encephalopathies
Ingo Helbig et al.
MOLECULAR SYNDROMOLOGY (2016)
How Will the $1,000 Dollar Genome Meet Reality (and Centers for Medicare & Medicaid Services)?
Carl Morrison et al.
ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE (2015)
Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia
M. J. Keogh et al.
JOURNAL OF NEUROLOGY (2015)
Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting
S. Klebe et al.
REVUE NEUROLOGIQUE (2015)
Exome sequencing in undiagnosed inherited and sporadic ataxias
Angela Pyle et al.
BRAIN (2015)
Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing
Yuan Xue et al.
GENETICS IN MEDICINE (2015)
Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing
Anke Hensiek et al.
JOURNAL OF NEUROLOGY (2015)
Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia
Sarah L. Sawyer et al.
HUMAN MUTATION (2014)
The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies
Luis Ruano et al.
NEUROEPIDEMIOLOGY (2014)
Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia
Brent L. Fogel et al.
JAMA NEUROLOGY (2014)
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
Andrea H. Nemeth et al.
BRAIN (2013)
Rare-disease genetics in the era of next-generation sequencing: discovery to translation
Kym M. Boycott et al.
NATURE REVIEWS GENETICS (2013)
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood
Chihiro Ohba et al.
NEUROGENETICS (2013)
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond
Alexandra Durr
LANCET NEUROLOGY (2010)
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia
Francois Gros-Louis et al.
NATURE GENETICS (2007)
分享论文
