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Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

http://www.wikidata.org/entity/Q37200324

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Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives Tau-tubulin kinase The cornerstones of Cerebellum and Ataxias: from peer review to rapid visibility in a rising discipline.Mitochondria sequence mapping strategies and practicability of mitochondria variant detection from exome and RNA sequencing data.The genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne's thread.Genes and genetic testing in hereditary ataxias.A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency Exome sequencing in undiagnosed inherited and sporadic ataxias Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia.Pseudodominant AOA2.De novo point mutations in patients diagnosed with ataxic cerebral palsy.Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia Mitochondrial pathology in progressive cerebellar ataxia Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Degenerative Ataxias: challenges in clinical research.Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis.Systematic review of autosomal recessive ataxias and proposal for a classification.Next-generation sequencing in childhood disorders.The Moonwalker mouse: new insights into TRPC3 function, cerebellar development, and ataxia.Next generation sequencing and the future of genetic diagnosis.Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.Kv3.3 potassium channels and spinocerebellar ataxia.Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.Practices and views of neurologists regarding the use of whole-genome sequencing in clinical settings: a web-based survey.Genetics of movement disorders in the next-generation sequencing era.Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis.Recurrent Ataxia in Children and Adolescents.Genetics of Migraine: Insights into the Molecular Basis of Migraine Disorders.Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease.NGS-based molecular diagnosis of hereditary ataxia is cost-efficient: an illustrative family Evaluation of exome sequencing variation in undiagnosed ataxias.Genetics: Utility of next-generation sequencing in ataxias.

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Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

http://www.wikidata.org/entity/Q37200324

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Next generation sequencing for ...... rders using ataxias as a model

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Alexandra C Kwasniewska

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Andrea H Németh

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Anneke Seller

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David Buck

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Emily Packham

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Jiannis Ragoussis

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John Tolmie

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Julie Evans

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Katarzyna D Bera

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Lorna Gregory

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ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34

Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene

dbSNP: the NCBI database of genetic variation

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3106-3118

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scholarly article

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10.1093/BRAIN/AWT236

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Pt 10

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136

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