4.3 Review

Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges

Related references

Note: Only part of the references are listed.
Review Medicine, General & Internal

Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics

Rute Pereira et al.

JOURNAL OF CLINICAL MEDICINE (2020)

Article Biochemistry & Molecular Biology

Epitope Mapping Immunoassay Analysis of the Interaction between -Amyloid and Fibrinogen

Vo Van Giau et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)

Review Clinical Neurology

Clinical application of next-generation sequencing to the practice of neurology

Jessica Rexach et al.

LANCET NEUROLOGY (2019)

Article Multidisciplinary Sciences

Genetic analyses of early-onset Alzheimer's disease using next generation sequencing

Vo Van Giau et al.

SCIENTIFIC REPORTS (2019)

Article Genetics & Heredity

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen-Chen Anne Feng et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

Review Clinical Neurology

Current and emerging evidence-based treatment options in chronic migraine: a narrative review

Elio Clemente Agostoni et al.

JOURNAL OF HEADACHE AND PAIN (2019)

Article Rheumatology

Synovial Tissue: Cellular and Molecular Phenotyping

Sara Shanaj et al.

CURRENT RHEUMATOLOGY REPORTS (2019)

Review Neurosciences

The interplay of aging, genetics and environmental factors in the pathogenesis of Parkinson's disease

Shirley Yin-Yu Pang et al.

TRANSLATIONAL NEURODEGENERATION (2019)

Review Oncology

Targeting Oncogenic BRAF: Past, Present, and Future

Aubhishek Zaman et al.

CANCERS (2019)

Article Medicine, Research & Experimental

Intranasal Administration of miR-146a Agomir Rescued the Pathological Process and Cognitive Impairment in an AD Mouse Model

Hui Mai et al.

MOLECULAR THERAPY-NUCLEIC ACIDS (2019)

Review Genetics & Heredity

The Role of microRNAs in Alzheimer's Disease and Their Therapeutic Potentials

Munvar Miya Shaik et al.

GENES (2018)

Article Genetics & Heredity

Incorporating epilepsy genetics into clinical practice: a 360° evaluation

Stephanie Oates et al.

NPJ GENOMIC MEDICINE (2018)

Review Biochemistry & Molecular Biology

The genetic basis of disease

Maria Jackson et al.

UNDERSTANDING BIOCHEMISTRY 4 (2018)

Article Biochemical Research Methods

Trinucleotide Rolling Circle Amplification: A Novel Method for the Detection of RNA and DNA

Jean-Marc Zingg et al.

METHODS AND PROTOCOLS (2018)

Article Clinical Neurology

Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease

Vo Van Giau et al.

NEUROPSYCHIATRIC DISEASE AND TREATMENT (2018)

Review Cell Biology

RNA-Seq methods for transcriptome analysis

Radmila Hrdlickova et al.

WILEY INTERDISCIPLINARY REVIEWS-RNA (2017)

Review Medicine, Research & Experimental

Next-generation sequencing: recent applications to the analysis of colorectal cancer

Filippo Del Vecchio et al.

JOURNAL OF TRANSLATIONAL MEDICINE (2017)

Article Medicine, General & Internal

Neurology Individualized Medicine: When to Use Next-Generation Sequencing Panels

Christopher J. Klein et al.

MAYO CLINIC PROCEEDINGS (2017)

Review Cell Biology

Next-Generation Sequencing in Diagnostic Pathology

Mohammad Ilyas

PATHOBIOLOGY (2017)

Review Clinical Neurology

Epilepsy-associated genes

Jie Wang et al.

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2017)

Article Biotechnology & Applied Microbiology

An approach of identifying differential nucleosome regions in multiple samples

Lingjie Liu et al.

BMC GENOMICS (2017)

Article Genetics & Heredity

Mosaic mutations in early-onset genetic diseases

Matt Halvorsen et al.

GENETICS IN MEDICINE (2016)

Review Cell Biology

Effects of Cold Ischemia on Gene Expression: A Review and Commentary

William E. Grizzle et al.

BIOPRESERVATION AND BIOBANKING (2016)

Article Clinical Neurology

Targeted next-generation sequencing assay for detection of mutations in primary myopathies

Anni Evila et al.

NEUROMUSCULAR DISORDERS (2016)

Review Cell Biology

Effects of Cold Ischemia on Gene Expression: A Review and Commentary

William E. Grizzle et al.

BIOPRESERVATION AND BIOBANKING (2016)

Article Genetics & Heredity

Analysis of rare copy number variation in absence epilepsies

Laura Addis et al.

NEUROLOGY-GENETICS (2016)

Article Genetics & Heredity

SORL1 mutations in early- and late-onset Alzheimer disease

Michael L. Cuccaro et al.

NEUROLOGY-GENETICS (2016)

Review Genetics & Heredity

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Jessica X. Chong et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

Article Clinical Neurology

Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci

Badri N. Vardarajan et al.

ANNALS OF NEUROLOGY (2015)

Review Neurosciences

Alzheimer's Disease Risk Genes and Mechanisms of Disease Pathogenesis

Celeste M. Karch et al.

BIOLOGICAL PSYCHIATRY (2015)

Review Clinical Neurology

Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing

Jodi Warman Chardon et al.

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2015)

Review Pathology

The contribution of next generation sequencing to epilepsy genetics

Rikke S. Moller et al.

EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2015)

Review Biochemistry & Molecular Biology

Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders

Sonja W. Scholz et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2015)

Article Biotechnology & Applied Microbiology

Genomic instability in the PARK2 locus is associated with Parkinson's disease

Wojciech Ambroziak et al.

JOURNAL OF APPLIED GENETICS (2015)

Review Immunology

The immunogenetics of multiple sclerosis: A comprehensive review

Jill A. Hollenbach et al.

JOURNAL OF AUTOIMMUNITY (2015)

Review Clinical Neurology

MRI in the Diagnosis and Monitoring of Multiple Sclerosis: An Update

M. P. Wattjes et al.

CLINICAL NEURORADIOLOGY (2015)

Review Genetics & Heredity

Advancing epilepsy genetics in the genomic era

Candace T. Myers et al.

GENOME MEDICINE (2015)

Review Biotechnology & Applied Microbiology

Big Data Analytics in Healthcare

Ashwin Belle et al.

BIOMED RESEARCH INTERNATIONAL (2015)

Article Clinical Neurology

A Comprehensive Genomic Approach for Neuromuscular Diseases Gives a High Diagnostic Yield

Arunkanth Ankala et al.

ANNALS OF NEUROLOGY (2015)

Article Geriatrics & Gerontology

Clinical and Neuroimaging Characterization of Chinese Dementia Patients with PSEN1 and PSEN2 Mutations

Zhihong Shi et al.

DEMENTIA AND GERIATRIC COGNITIVE DISORDERS (2015)

Review Clinical Neurology

Role of apolipoprotein E in neurodegenerative diseases

Vo Van Giau et al.

NEUROPSYCHIATRIC DISEASE AND TREATMENT (2015)

Article Clinical Neurology

Inflammatory dysregulation of blood monocytes in Parkinson's disease patients

Veselin Grozdanov et al.

ACTA NEUROPATHOLOGICA (2014)

Article Biochemical Research Methods

Towards standardisation of cell-free DNA measurement in plasma: controls for extraction efficiency, fragment size bias and quantification

Alison S. Devonshire et al.

ANALYTICAL AND BIOANALYTICAL CHEMISTRY (2014)

Article Clinical Neurology

Clinical Whole Exome Sequencing in Child Neurology Practice

Siddharth Srivastava et al.

ANNALS OF NEUROLOGY (2014)

Article Clinical Neurology

Copy Number Variation Plays an Important Role in Clinical Epilepsy

Heather Olson et al.

ANNALS OF NEUROLOGY (2014)

Article Biochemistry & Molecular Biology

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

Hilary C. Martin et al.

HUMAN MOLECULAR GENETICS (2014)

Article Genetics & Heredity

Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

Sarah L. Sawyer et al.

HUMAN MUTATION (2014)

Article Medicine, General & Internal

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)

Article Medicine, General & Internal

Clinical Interpretation and Implications of Whole-Genome Sequencing

Frederick E. Dewey et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)

Article Medicine, General & Internal

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

Hane Lee et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)

Article Multidisciplinary Sciences

Genome sequencing identifies major causes of severe intellectual disability

Christian Gilissen et al.

NATURE (2014)

Review Clinical Neurology

Next Generation Sequencing and the Future of Genetic Diagnosis

Katja Lohmann et al.

NEUROTHERAPEUTICS (2014)

Review Clinical Neurology

Parkinsonian syndrome in familial frontotemporal dementia

Joanna Siuda et al.

PARKINSONISM & RELATED DISORDERS (2014)

Article Chemistry, Analytical

Next-Generation Sequencing Platforms

Elaine R. Mardis

ANNUAL REVIEW OF ANALYTICAL CHEMISTRY, VOL 6 (2013)

Review Clinical Neurology

INHERITED NEUROPATHIES: CLINICAL OVERVIEW AND UPDATE

Christopher J. Klein et al.

MUSCLE & NERVE (2013)

Article Genetics & Heredity

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

S. Hong Lee et al.

NATURE GENETICS (2013)

Article Medicine, General & Internal

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

Article Multidisciplinary Sciences

A molecular explanation for the recessive nature of parkin-linked Parkinson's disease

Donald E. Spratt et al.

NATURE COMMUNICATIONS (2013)

Letter Clinical Neurology

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome

Hirotomo Saitsu et al.

ANNALS OF NEUROLOGY (2012)

Editorial Material Multidisciplinary Sciences

FORUM: Genomics ENCODE explained

Joseph R. Ecker

NATURE (2012)

Review Clinical Neurology

Whole-genome and whole-exome sequencing in neurological diseases

Jia-Nee Foo et al.

NATURE REVIEWS NEUROLOGY (2012)

Article Clinical Neurology

Rare variants in the CYP27B1 gene are associated with multiple sclerosis

Sreeram V. Ramagopalan et al.

ANNALS OF NEUROLOGY (2011)

Review Biochemistry & Molecular Biology

The impact of next-generation sequencing on genomics

Jun Zhang et al.

JOURNAL OF GENETICS AND GENOMICS (2011)

Article Multidisciplinary Sciences

An integrated semiconductor device enabling non-optical genome sequencing

Jonathan M. Rothberg et al.

NATURE (2011)

Article Biochemistry & Molecular Biology

A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis

Inger-Lise Mero et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2010)

Review Geriatrics & Gerontology

Genetics of Alzheimer Disease

Lynn M. Bekris et al.

JOURNAL OF GERIATRIC PSYCHIATRY AND NEUROLOGY (2010)

Review Genetics & Heredity

APPLICATIONS OF NEXT-GENERATION SEQUENCING Sequencing technologies - the next generation

Michael L. Metzker

NATURE REVIEWS GENETICS (2010)

Review Biochemistry & Molecular Biology

Parkinson's disease: from monogenic forms to genetic susceptibility factors

Suzanne Lesage et al.

HUMAN MOLECULAR GENETICS (2009)

Review Neurosciences

Specific long-term memory traces in primary auditory cortex

NM Weinberger

NATURE REVIEWS NEUROSCIENCE (2004)