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1. Full Text Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
by Deng, Han-Xiang and Chen, Wenjie and Hong, Seong-Tshool and Boycott, Kym M and Gorrie, George H and Siddique, Nailah and Yang, Yi and Fecto, Faisal and Shi, Yong and Zhai, Hong and Jiang, Hujun and Hirano, Makito and Rampersaud, Evadnie and Jansen, Gerard H and Donkervoort, Sandra and Bigio, Eileen H and Brooks, Benjamin R and Ajroud, Kaouther and Sufit, Robert L and Haines, Jonathan L and Mugnaini, Enrico and Pericak-Vance, Margaret A and Siddique, Teepu
Nature (London), ISSN 0028-0836, 09/2011, Volume 477, Issue 7363, pp. 211 - 215
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Cell Cycle Proteins - analysis | Spinal Cord - metabolism | Ubiquitins - genetics | Humans | Ubiquitin - metabolism | Molecular Sequence Data | Male | Dementia - genetics | DNA-Binding Proteins - metabolism | Base Sequence | Aging | Cell Cycle Proteins - genetics | Adult | Female | Child | Amino Acid Sequence | Cell Line | Dementia - pathology | Genes, X-Linked - genetics | Amyotrophic Lateral Sclerosis - genetics | Mutation - genetics | Amyotrophic Lateral Sclerosis - complications | Hippocampus - metabolism | Amyotrophic Lateral Sclerosis - pathology | Dementia - complications | Pedigree | Age of Onset | Ubiquitins - analysis | Proteasome Endopeptidase Complex - metabolism | Genes, Dominant - genetics | Amyotrophic lateral sclerosis | Genetic aspects | Diagnosis | Research | Gene mutations | Dementia | Proteins | Studies | Pathology | Pathogenesis | Neurodegeneration | Mutation | Alzheimers disease | Chromosomes | Deoxyribonucleic acid--DNA | Index Medicus
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2. Full Text Time for Well-Powered Controlled Prospective Studies to Test a Causal Role for Herpes Viruses in Alzheimer’s Disease Using Antiherpetic Drugs
by Goldschmidt-Clermont, Pascal J and Volinsky, Fred G and LaRosa, Steven P and Gilbert, John R and Periçak-Vance, Margaret A
The journals of gerontology. Series A, Biological sciences and medical sciences, ISSN 1079-5006, 05/2020, Volume 75, Issue 6, pp. 1058 - 1060
Gerontology | Life Sciences & Biomedicine | Geriatrics & Gerontology | Science & Technology | Alzheimer Disease - etiology | Alzheimer Disease - virology | Prospective Studies | Antiviral Agents - therapeutic use | Herpesviridae | Humans | Herpesviridae Infections - complications | Causality | Herpesviridae Infections - drug therapy | Randomized Controlled Trials as Topic | Neurodegenerative diseases | Pathogenesis | Herpes viruses | Herpes simplex | Varicella | Alzheimers disease | Alzheimer's disease | Index Medicus | Abridged Index Medicus
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3. Full Text Genomic and epigenetic evidence for oxytocin receptor deficiency in autism
by Gregory, Simon G and Connelly, Jessica J and Towers, Aaron J and Johnson, Jessica and Biscocho, Dhani and Markunas, Christina A and Lintas, Carla and Abramson, Ruth K and Wright, Harry H and Ellis, Peter and Langford, Cordelia F and Worley, Gordon and Delong, G. Robert and Murphy, Susan K and Cuccaro, Michael L and Persico, Antonello and Pericak-Vance, Margaret A
BMC medicine, ISSN 1741-7015, 10/2009, Volume 7, Issue 1, pp. 62 - 62
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Autistic Disorder - genetics | Sequence Deletion | Receptors, Oxytocin - deficiency | Humans | Child, Preschool | Male | DNA - metabolism | DNA - genetics | Young Adult | DNA Methylation | Comparative Genomic Hybridization | Microarray Analysis | Adolescent | Adult | Female | Child | Autism | Genetic aspects | Research | Oxytocin | Genomics | Index Medicus
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4. Full Text Reply to ‘TMEM230 variants in Parkinson’s disease’ and ‘Doubts about TMEM230 as a gene for parkinsonism
by Deng, Han-Xiang and Pericak-Vance, Margaret A and Siddique, Teepu
Nature genetics, ISSN 1061-4036, 2019, Volume 51, Issue 3, pp. 369 - 371
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Basal ganglia | Autopsies | Parkinson's disease | Neurodegenerative diseases | Nucleotide sequence | Parkinsons disease | Central nervous system diseases | Genomes | Heredity | Single-nucleotide polymorphism | Synuclein | Gene sequencing | Pathology | Neurology | Tau protein | Autopsy | Mutation | Genetic testing | LRRK2 protein | Chromosomes | Movement disorders | Deoxyribonucleic acid--DNA | Index Medicus
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5. Full Text No Gene Is an Island: The Flip-Flop Phenomenon
by Lin, Ping-I and Vance, Jeffery M and Pericak-Vance, Margaret A and Martin, Eden R
American journal of human genetics, ISSN 0002-9297, 2007, Volume 80, Issue 3, pp. 531 - 538
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Genetic Predisposition to Disease | Gene Frequency | Humans | Probability | Penetrance | Genetic Markers | Linkage Disequilibrium | Polymorphism, Genetic | Genes - physiology | Computer Simulation | Alleles | Models, Genetic | Genetic Linkage | Allelomorphism | Genetic variation | Research | Hypotheses | Genes | Index Medicus | Report
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6. Full Text Vitamin D from different sources is inversely associated with Parkinson disease
by Wang, Liyong and Evatt, Marian L and Maldonado, Lizmarie G and Perry, William R and Ritchie, James C and Beecham, Gary W and Martin, Eden R and Haines, Jonathan L and Pericak‐Vance, Margaret A and Vance, Jeffery M and Scott, William K
Movement disorders, ISSN 0885-3185, 04/2015, Volume 30, Issue 4, pp. 560 - 566
Parkinson's disease | diet | vitamin D | vitamin D2 | Vitamin D2 | Diet | Vitamin D | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Calcifediol - blood | Humans | Middle Aged | Logistic Models | Male | Tandem Mass Spectrometry | Vitamin D Deficiency - epidemiology | Chromatography, Liquid | Parkinson Disease - epidemiology | Female | 25-Hydroxyvitamin D 2 - blood | Aged | Retrospective Studies | Parkinson Disease - blood | Diet therapy | Analysis | Calcifediol | Alfacalcidol | Mass spectrometry | Vitamin deficiency | Index Medicus | Parkinson disease
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7. Full Text Genetic testing and corresponding services among individuals with autism spectrum disorder (ASD)
by Cuccaro, Michael L and Czape, Kayla and Alessandri, Michael and Lee, Joycelyn and Deppen, Abigail Rupchock and Bendik, Elise and Dueker, Nicole and Nations, Laura and Pericak‐Vance, Margaret and Hahn, Susan
American journal of medical genetics. Part A, ISSN 1552-4825, 10/2014, Volume 164, Issue 10, pp. 2592 - 2600
parental attitudes | autism spectrum disorder | survey research | genetic testing | Survey research | Parental attitudes | Genetic testing | Autism spectrum disorder | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Hispanic Americans - genetics | Child Development Disorders, Pervasive - genetics | Child | Genetic Testing - methods | Humans | Parents | Autism | Genetic screening | Children | Index Medicus
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8. Full Text Genome-Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease
by Edwards, Todd L and Scott, William K and Almonte, Cherylyn and Burt, Amber and Powell, Eric H and Beecham, Gary W and Wang, Liyong and Zuchner, Stephan and Konidari, Ioanna and Wang, Gaofeng and Singer, Carlos and Nahab, Fatta and Scott, Burton and Stajich, Jeffrey M and Pericak-Vance, Margaret and Haines, Jonathan and Vance, Jeffery M and Martin, Eden R
Annals of human genetics, ISSN 0003-4800, 03/2010, Volume 74, Issue 2, pp. 97 - 109
Parkinson disease | microtubule associated protein tau | alpha-synuclein | association study | alpha‐synuclein | Association study | Alpha-Synuclein | Microtubule associated protein tau | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genome-Wide Association Study | tau Proteins - genetics | Humans | tau Proteins - metabolism | Parkinson Disease - metabolism | Polymorphism, Single Nucleotide | alpha-Synuclein - genetics | Parkinson Disease - genetics | alpha-Synuclein - metabolism | Medical research | Parkinson's disease | Genomics | Medicine, Experimental | Genomes | Research | Risk factors | Prevalence studies (Epidemiology) | Index Medicus | Alpha-synuclein
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9. Full Text A Mutation in the TRPC6 Cation Channel Causes Familial Focal Segmental Glomerulosclerosis
by Michelle P. Winn and Peter J. Conlon and Kelvin L. Lynn and Merry Kay Farrington and Tony Creazzo and April F. Hawkins and Nikki Daskalakis and Shu Ying Kwan and Seth Ebersviller and James L. Burchette and Margaret A. Pericak-Vance and David N. Howell and Jeffery M. Vance and Paul B. Rosenberg
Science (American Association for the Advancement of Science), ISSN 0036-8075, 6/2005, Volume 308, Issue 5729, pp. 1801 - 1804
Receptors | Kidneys | Messenger RNA | Focal segmental glomerulosclerosis | Calcium | HEK293 cells | Cell lines | Reports | Kidney cells | Kidney diseases | Genetic mutation | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Glomerulonephritis | Nephrology. Urinary tract diseases | Biological and medical sciences | Medical sciences | Nephropathies. Renovascular diseases. Renal failure | Haplotypes | Uridine Triphosphate - metabolism | Calcium Channels - metabolism | Calcium - metabolism | Exons | Glomerulosclerosis, Focal Segmental - genetics | Humans | Male | Mutation, Missense | Sodium - metabolism | Kidney - metabolism | Receptor, Angiotensin, Type 1 - genetics | Transfection | Kidney Glomerulus - metabolism | Female | Cell Membrane - metabolism | GTP-Binding Protein alpha Subunits, Gq-G11 - metabolism | Kidney Tubules - metabolism | Calcium Channels - genetics | Calcium Signaling | Cell Line | Angiotensin II - pharmacology | TRPC6 Cation Channel | Angiotensin II - metabolism | TRPC Cation Channels | Uridine Triphosphate - pharmacology | Chromosomes, Human, Pair 11 - genetics | Sequence Analysis, DNA | Carbachol - pharmacology | Patch-Clamp Techniques | Pedigree | Calcium Channels - chemistry | Receptor, Angiotensin, Type 1 - metabolism | Amino Acid Substitution | Case studies | Research | Analysis | Heredity | Mutation | Chromosomes | Genes | Index Medicus
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10. Full Text Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration
by Jonathan L. Haines and Michael A. Hauser and Silke Schmidt and William K. Scott and Lana M. Olson and Paul Gallins and Kylee L. Spencer and Shu Ying Kwan and Maher Noureddine and John R. Gilbert and Nathalie Schnetz-Boutaud and Anita Agarwal and Eric A. Postel and Margaret A. Pericak-Vance
Science (American Association for the Advancement of Science), ISSN 0036-8075, 4/2005, Volume 308, Issue 5720, pp. 419 - 421
Datasets | Haplotypes | Exons | Genes | Alleles | Predisposing factors | Experimentation | Genetic loci | Reports | Modeling | Research universities | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Biological and medical sciences | Medical sciences | Ophthalmology | Retinopathies | Genetic Predisposition to Disease | Heparin - metabolism | Complement Activation | Complement Factor H - physiology | Gene Frequency | Humans | Risk Factors | Genotype | Sequence Analysis, DNA | Case-Control Studies | Linkage Disequilibrium | Genetic Variation | C-Reactive Protein - metabolism | Macular Degeneration - genetics | Complement Factor H - analysis | Aged | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 1 - genetics | Complement Factor H - genetics | Odds Ratio | Binding Sites | Smoking | Macular degeneration | Allelomorphism | Analysis | Causes of | Genetics | Research | Risk factors | Pathology | Genetic testing | Health risk assessment | Older people | Deoxyribonucleic acid--DNA | Index Medicus
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