Mutation burden profile in familial Alzheimer's disease cases from India
暂无分享,去创建一个
Mathew Varghese | Sanjeev Jain | Mitradas M. Panicker | Biju Viswanath | Sanjeev Jain | B. Viswanath | M. Panicker | M. Varghese | M. Purushottam | Meera Purushottam | Odity Mukherjee | O. Mukherjee | L. Kota | Adhikarla Syama | Somdatta Sen | Lakshmi Narayanan Kota | A. Syama | Somdatta Sen | S. Jain
[1] Shirley A. Miller,et al. A simple salting out procedure for extracting DNA from human nucleated cells. , 1988, Nucleic acids research.
[2] J. Morris. The Clinical Dementia Rating (CDR) , 1993, Neurology.
[3] M. Mega,et al. The Neuropsychiatric Inventory , 1994, Neurology.
[4] Steven H. Belle,et al. A hindi version of the MMSE: The development of a cognitive screening instrument for a largely illiterate rural elderly population in india , 1995 .
[5] B. Dubois,et al. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. , 1999, American journal of human genetics.
[6] G. Fillenbaum,et al. Development of an activities of daily living scale to screen for dementia in an illiterate rural older population in India. , 1999, Age and ageing.
[7] K. Sleegers,et al. Familial clustering and genetic risk for dementia in a genetically isolated Dutch population. , 2004, Brain : a journal of neurology.
[8] R. Tanzi,et al. Twenty Years of the Alzheimer’s Disease Amyloid Hypothesis: A Genetic Perspective , 2005, Cell.
[9] Maido Remm,et al. Enhancements and modifications of primer design program Primer3 , 2007, Bioinform..
[10] C. Mariani,et al. Interaction between the APOE ɛ4 allele and the APH-1b c+651T>G SNP in Alzheimer's disease , 2008, Neurobiology of Aging.
[11] Richard Durbin,et al. Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .
[12] S. Henikoff,et al. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm , 2009, Nature Protocols.
[13] Ken Chen,et al. VarScan: variant detection in massively parallel sequencing of individual and pooled samples , 2009, Bioinform..
[14] J. Narayanaswamy,et al. Is there a familial overlap between dementia and other psychiatric disorders? , 2010, International Psychogeriatrics.
[15] Sanjeev Jain,et al. Apolipoprotein E Polymorphism and Dementia: A Hospital-Based Study from Southern India , 2011, Dementia and Geriatric Cognitive Disorders.
[16] Robert A. Edwards,et al. Quality control and preprocessing of metagenomic datasets , 2011, Bioinform..
[17] J. Pariente,et al. The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers. , 2012, Journal of Alzheimer's disease : JAD.
[18] Jennifer Williamson,et al. Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families , 2012, PloS one.
[19] I. Adzhubei,et al. Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2 , 2013, Current protocols in human genetics.
[20] K. Jacob. Dementia assessment: A review of studies from Vellore and perspectives. , 2014, The National medical journal of India.
[21] Michelle K. Lupton,et al. Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease , 2014, Neurobiology of Aging.
[22] A. Goate,et al. Alzheimer’s Disease Risk Genes and Mechanisms of Disease Pathogenesis , 2015, Biological Psychiatry.
[23] M. Varghese,et al. Neuropsychological markers of mild cognitive impairment: A clinic based study from urban India , 2015, Annals of Indian Academy of Neurology.
[24] Jitender Saini,et al. A study of structural and functional connectivity in early Alzheimer's disease using rest fMRI and diffusion tensor imaging , 2015, International journal of geriatric psychiatry.
[25] Thomas D. Bird,et al. Alzheimer Disease Overview , 2015 .
[26] S. An,et al. Gene panels and primers for next generation sequencing studies on neurodegenerative disorders , 2015, Molecular & Cellular Toxicology.
[27] F. Cunningham,et al. The Ensembl Variant Effect Predictor , 2016, Genome Biology.
[28] Florian G. Metzger,et al. Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants , 2016, Neurobiology of Aging.
[29] Michelle K. Lupton,et al. Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer’s Disease , 2016, PloS one.
[30] M. Carrillo,et al. Research priorities to reduce the global burden of dementia by 2025 , 2016, The Lancet Neurology.
[31] Tsviya Olender,et al. VarElect: the phenotype-based variation prioritizer of the GeneCards Suite , 2016, BMC Genomics.
[32] Michael W. Weiner,et al. Metabolic network failures in Alzheimer's disease: A biochemical road map , 2017, Alzheimer's & Dementia.
[33] M. Varghese,et al. Pathways to care among persons with dementia: Study from a tertiary care center. , 2017, Asian journal of psychiatry.
[34] Nick C Fox,et al. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease , 2017, Nature Genetics.
[35] Sanjeev Jain,et al. Effect of CLU and PICALM polymorphisms on AD risk: A study from south India. , 2017, Asian journal of psychiatry.
[36] Han Huang,et al. Functional annotation of Alzheimer's disease associated loci revealed by GWASs , 2017, PloS one.
[37] The effects of different familial Alzheimer’s disease mutations on APP processing in vivo , 2017, Alzheimer's Research & Therapy.