A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study
出版年份 2020 全文链接
标题
A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study
作者
关键词
-
出版物
NEURAL PLASTICITY
Volume 2020, Issue -, Pages 1-10
出版商
Hindawi Limited
发表日期
2020-08-19
DOI
10.1155/2020/8078103
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。- Update on the Neurobiology of Vascular Cognitive Impairment: From Lab to Clinic
- (2020) Luisa Vinciguerra et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Microglial Trem2 induces synaptic impairment at early stage and prevents amyloidosis at late stage in APP/PS1 mice
- (2019) Liang Sheng et al. FASEB JOURNAL
- The Missing Heritability of Sporadic Frontotemporal Dementia: New Insights from Rare Variants in Neurodegenerative Candidate Genes
- (2019) Miriam Ciani et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Early-onset subcortical ischemic vascular dementia in an adult with mtDNA mutation 3316G>A
- (2018) Giuseppe Lanza et al. JOURNAL OF NEUROLOGY
- Alzheimer’s Disease and Frontotemporal Dementia: The Current State of Genetics and Genetic Testing Since the Advent of Next-Generation Sequencing
- (2018) Jill S. Goldman et al. Molecular Diagnosis & Therapy
- Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing
- (2018) Anna Bartoletti-Stella et al. NEUROBIOLOGY OF AGING
- Analysis of Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, and Other Dementia-Related Genes in 107 Korean Patients with Frontotemporal Dementia
- (2018) Eun-Joo Kim et al. NEUROBIOLOGY OF AGING
- Impaired short-term plasticity in restless legs syndrome: a pilot rTMS study
- (2018) Giuseppe Lanza et al. SLEEP MEDICINE
- Screening for possible oligogenic pathogenesis in Chinese sporadic ALS patients
- (2018) Hang Zhang et al. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
- Next Generation Sequencing Analysis in Early Onset Dementia Patients
- (2018) Cristian Bonvicini et al. JOURNAL OF ALZHEIMERS DISEASE
- Interpreting Genetic Variants: Hints from a Family Cluster of Parkinson’s Disease
- (2018) Francesco Cali et al. Journal of Parkinsons Disease
- Cortical involvement in celiac disease before and after long-term gluten-free diet: A Transcranial Magnetic Stimulation study
- (2017) Manuela Pennisi et al. PLoS One
- Novel Insights into the Physiological Function of the APP (Gene) Family and Its Proteolytic Fragments in Synaptic Plasticity
- (2017) Susann Ludewig et al. Frontiers in Molecular Neuroscience
- Neurophysiology of the “Celiac Brain”: Disentangling Gut-Brain Connections
- (2017) Manuela Pennisi et al. Frontiers in Neuroscience
- Impaired long-term potentiation-like cortical plasticity in presymptomatic genetic frontotemporal dementia
- (2016) Alberto Benussi et al. ANNALS OF NEUROLOGY
- Cholinergic circuitry functioning in patients with vascular cognitive impairment – no dementia
- (2016) Rita Bella et al. Brain Stimulation
- TREM2 variants: new keys to decipher Alzheimer disease pathogenesis
- (2016) Marco Colonna et al. NATURE REVIEWS NEUROSCIENCE
- Rare TREM2 variants associated with Alzheimer’s disease display reduced cell surface expression
- (2016) Daniel W. Sirkis et al. Acta Neuropathologica Communications
- The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration
- (2016) Sali M K Farhan et al. npj Genomic Medicine
- 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
- Parkinson’s disease dementia: Diagnostic criteria and risk factor review
- (2015) Luiz Felipe Rocha Vasconcellos et al. JOURNAL OF CLINICAL AND EXPERIMENTAL NEUROPSYCHOLOGY
- Regulation of Postsynaptic Function by the Dementia-Related ESCRT-III Subunit CHMP2B
- (2015) R. Chassefeyre et al. JOURNAL OF NEUROSCIENCE
- WHO takes up the baton on dementia
- (2015) The Lancet Neurology LANCET NEUROLOGY
- C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis
- (2015) Jonathan D Rohrer et al. LANCET NEUROLOGY
- Dementia: timely diagnosis and early intervention
- (2015) L. Robinson et al. BMJ-British Medical Journal
- Dementia: timely diagnosis and early intervention
- (2015) L. Robinson et al. BMJ-British Medical Journal
- Supplement 4: Canadian Guidelines on Parkinson's Disease
- (2014) CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
- The contribution of transcranial magnetic stimulation in the diagnosis and in the management of dementia
- (2014) Mariagiovanna Cantone et al. CLINICAL NEUROPHYSIOLOGY
- Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations
- (2014) R. Guerreiro et al. HUMAN MOLECULAR GENETICS
- New criteria for frontotemporal dementia syndromes: clinical and pathological diagnostic implications
- (2014) L. Chare et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Exome Sequencing: New Insights into Lipoprotein Disorders
- (2014) Sali M. K. Farhan et al. Current Cardiology Reports
- Trinucleotide repeat expansions catalyzed by human cell-free extracts
- (2013) Jennifer R Stevens et al. CELL RESEARCH
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
- (2013) Robert C. Green et al. GENETICS IN MEDICINE
- Validation of next-generation sequencing technologies in genetic diagnosis of dementia
- (2013) John Beck et al. NEUROBIOLOGY OF AGING
- Alzheimer disease in the United States (2010-2050) estimated using the 2010 census
- (2013) L. E. Hebert et al. NEUROLOGY
- Preserved Transcallosal Inhibition to Transcranial Magnetic Stimulation in Nondemented Elderly Patients with Leukoaraiosis
- (2013) Giuseppe Lanza et al. Biomed Research International
- Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
- (2012) H. Thorvaldsdottir et al. BRIEFINGS IN BIOINFORMATICS
- wANNOVAR: annotating genetic variants for personal genomes via the web
- (2012) Xiao Chang et al. JOURNAL OF MEDICAL GENETICS
- TMS follow-up study in patients with vascular cognitive impairment-no dementia
- (2012) Rita Bella et al. NEUROSCIENCE LETTERS
- The diagnosis of dementia due to Alzheimer’s disease: Recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer's disease
- (2011) Guy M. McKhann et al. Alzheimers & Dementia
- The diagnosis of mild cognitive impairment due to Alzheimer’s disease: Recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer's disease
- (2011) Marilyn S. Albert et al. Alzheimers & Dementia
- Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors
- (2011) Jill S Goldman et al. GENETICS IN MEDICINE
- Exome sequencing: a transformative technology
- (2011) Andrew B Singleton LANCET NEUROLOGY
- Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis
- (2009) Michael J. Strong et al. Amyotrophic Lateral Sclerosis
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started