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1. Full Text Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci
by De Jager, Philip L and Srivastava, Gyan and Lunnon, Katie and Burgess, Jeremy and Schalkwyk, Leonard C and Yu, Lei and Eaton, Matthew L and Keenan, Brendan T and Ernst, Jason and McCabe, Cristin and Tang, Anna and Raj, Towfique and Replogle, Joseph and Brodeur, Wendy and Gabriel, Stacey and Chai, High S and Younkin, Curtis and Younkin, Steven G and Zou, Fanggeng and Szyf, Moshe and Epstein, Charles B and Schneider, Julie A and Bernstein, Bradley E and Meissner, Alex and Ertekin-Taner, Nilufer and Chibnik, Lori B and Kellis, Manolis and Mill, Jonathan and Bennett, David A
Nature neuroscience, ISSN 1097-6256, 09/2014, Volume 17, Issue 9, pp. 1156 - 1163
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | Middle Aged | Male | Brain - physiology | Alzheimer Disease - pathology | Protein Interaction Maps | Amyloidosis - epidemiology | Amyloidosis - genetics | Tumor Suppressor Proteins - genetics | Aged, 80 and over | Alzheimer Disease - epidemiology | Female | Genetic Predisposition to Disease - epidemiology | Nuclear Proteins - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Amyloidosis - pathology | DNA Methylation - genetics | Carrier Proteins - genetics | Ankyrins - genetics | Adaptor Proteins, Signal Transducing - genetics | Brain - pathology | CpG Islands - genetics | Aged | Alzheimer Disease - genetics | Brain research | Genetic susceptibility | Genetic research | Development and progression | Genetic aspects | Research | Methylation | Alzheimer's disease | Index Medicus
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2. Full Text Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry
by Levy, R and Gérard, L and Kuemmerle-Deschner, J and Lachmann, H J and Koné-Paut, I and Cantarini, L and Woo, P and Naselli, A and Bader-Meunier, B and Insalaco, A and Al-Mayouf, S M and Ozen, S and Hofer, M and Frenkel, J and Modesto, C and Nikishina, I and Schwarz, T and Martino, S and Meini, A and Quartier, P and Martini, A and Ruperto, N and Neven, B and Gattorno, M and Eurofever and PRINTO and for PRINTO and Eurofever
Annals of the rheumatic diseases, ISSN 0003-4967, 11/2015, Volume 74, Issue 11, pp. 2043 - 2049
ARTICULAR SYNDROME | NLRP3 MUTATION | Research Support, Non-U.S. Gov't | LOW-LEVEL MOSAICISM | SYNDROMES CAPS | GENETIC-HETEROGENEITY | MUCKLE-WELLS-SYNDROME | COLD AUTOINFLAMMATORY SYNDROME | CIAS1 MUTATIONS | AA AMYLOIDOSIS | Journal Article | MULTISYSTEM INFLAMMATORY DISEASE | Life Sciences & Biomedicine | Rheumatology | Science & Technology | Arthralgia - etiology | Uveitis - etiology | Conjunctivitis - genetics | Headache - etiology | Exanthema - genetics | Myalgia - genetics | NLR Family, Pyrin Domain-Containing 3 Protein | Humans | Child, Preschool | Infant | Male | Papilledema - genetics | Arthritis - genetics | Meningitis - etiology | Exanthema - etiology | Young Adult | Arthritis - etiology | Germ-Line Mutation | Adult | Female | Registries | Retrospective Studies | Arthralgia - genetics | Child | Cryopyrin-Associated Periodic Syndromes - complications | Meningitis - genetics | Severity of Illness Index | Cryopyrin-Associated Periodic Syndromes - genetics | Europe | Genotype | Myalgia - etiology | Hearing Loss, Sensorineural - genetics | Headache - genetics | Cryopyrin-Associated Periodic Syndromes - physiopathology | Carrier Proteins - genetics | Phenotype | Hearing Loss, Sensorineural - etiology | Adolescent | Alleles | Heterozygote | Mutation | Uveitis - genetics | Conjunctivitis - etiology | Cohort Studies | Papilledema - etiology | Complications and side effects | Nervous system diseases | Care and treatment | Research | Cryopyrin-associated periodic syndromes | Studies | Genotype & phenotype | Statistical analysis | Disease | Cold | Meningitis | Family medical history | Hearing impairment | Fever | Chronic illnesses | Index Medicus
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3. Full Text The Tumor-Necrosis-Factor Receptor–Associated Periodic Syndrome: New Mutations in TNFRSF1A, Ancestral Origins, Genotype-Phenotype Studies, and Evidence for Further Genetic Heterogeneity of Periodic Fevers
by Aksentijevich, Ivona and Galon, Jérôme and Soares, Miguel and Mansfield, Elizabeth and Hull, Keith and Oh, Hye-Hyun and Goldbach-Mansky, Raphaela and Dean, Jane and Athreya, Balu and Reginato, Antonio J and Henrickson, Michael and Pons-Estel, Bernardo and O’Shea, John J and Kastner, Daniel L
American journal of human genetics, ISSN 0002-9297, 2001, Volume 69, Issue 2, pp. 301 - 314
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Biological and medical sciences | Medical sciences | Humans | Molecular Sequence Data | Male | Antigens, CD - genetics | Haplotypes - genetics | Ethnic Groups - genetics | DNA Mutational Analysis | Amyloidosis - genetics | Base Sequence | Female | Antigens, CD - chemistry | Receptors, Tumor Necrosis Factor - genetics | Protein Structure, Tertiary | Amino Acid Sequence | Receptors, Tumor Necrosis Factor - chemistry | Introns - genetics | Alternative Splicing - genetics | Receptors, Tumor Necrosis Factor, Type I | Familial Mediterranean Fever - genetics | Models, Molecular | Exons - genetics | Penetrance | Mutation - genetics | Genetic Heterogeneity | Microsatellite Repeats - genetics | Pedigree | Polymorphism, Single Nucleotide - genetics | Gene mutations | Tumor necrosis factor | Analysis | Physiological aspects | Genetic aspects | Genomes | Fever | periodic-fever syndrome | tumor necrosis factor receptor-associated periodic syndrome | TNFRSF1A gene | Index Medicus
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4. Full Text The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry
by Haar, N. Ter and Jeyaratnam, J and Lachmann, H.J and Simon, A and Brogan, P.A and Doglio, M and Cattalini, M and Anton, J and Modesto, C and Quartier, P and Hoppenreijs, E.P and Martino, S and Insalaco, A and Cantarini, L and Lepore, L and Alessio, M and Calvo Penades, I and Boros, C and Consolini, R and Rigante, D and Russo, R and Pachlopnik Schmid, J and Lane, T and Martini, A and Ruperto, N and Frenkel, J and Gattorno, M and Paediat Rheumatology Int Trials and Paediatric Rheumatology International Trials Organisation and Eurofever Project
Arthritis & rheumatology (Hoboken, N.J.), ISSN 2326-5191, 2016, Volume 68, Issue 11, pp. 2795 - 2805
Life Sciences & Biomedicine | Rheumatology | Science & Technology | Arthralgia - etiology | Uveitis - etiology | Humans | Child, Preschool | Lymphadenopathy - etiology | Male | Arthralgia - physiopathology | Arthritis - genetics | Stomatitis, Aphthous - genetics | Cerebellar Diseases - physiopathology | Amyloidosis - genetics | Skin Diseases - physiopathology | Amyloidosis - etiology | Child | Stomatitis, Aphthous - etiology | Infant, Newborn | Myalgia - physiopathology | Amyloidosis - physiopathology | Genotype | Headache - physiopathology | Vomiting - genetics | Phenotype | Diarrhea - genetics | Abdominal Pain - genetics | Adolescent | Age of Onset | Intellectual Disability - etiology | Uveitis - genetics | Vomiting - physiopathology | Conjunctivitis - etiology | Conjunctivitis - genetics | Arthritis - physiopathology | Headache - etiology | Skin Diseases - genetics | Mevalonate Kinase Deficiency - physiopathology | Myalgia - genetics | Cerebellar Diseases - etiology | Diarrhea - physiopathology | Infant | Mevalonate Kinase Deficiency - genetics | Intellectual Disability - genetics | Pharyngitis - genetics | Arthritis - etiology | Female | Registries | Retrospective Studies | Arthralgia - genetics | Pharyngitis - physiopathology | Abdominal Pain - etiology | Pharyngitis - etiology | Lymphadenopathy - genetics | Abdominal Pain - physiopathology | Myalgia - etiology | Phosphotransferases (Alcohol Group Acceptor) - genetics | Headache - genetics | Intellectual Disability - physiopathology | Skin Diseases - etiology | Cerebellar Diseases - genetics | Conjunctivitis - physiopathology | Mevalonate Kinase Deficiency - complications | Stomatitis, Aphthous - physiopathology | Vomiting - etiology | Diarrhea - etiology | Lymphadenopathy - physiopathology | Uveitis - physiopathology | Kinases | Genotype & phenotype | Index Medicus | Abridged Index Medicus
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5. Full Text Lipid Nanoparticle Systems for Enabling Gene Therapies
by Cullis, Pieter R and Hope, Michael J
Molecular therapy, ISSN 1525-0016, 07/2017, Volume 25, Issue 7, pp. 1467 - 1475
genetic drugs | gene therapy | lipid nanoparticles | siRNA | mRNA | gene editing | RNA, Small Interfering - genetics | Hepatitis B - metabolism | Nanoparticles - chemistry | Hepatitis B - genetics | Amyloid Neuropathies, Familial - metabolism | Atherosclerosis - genetics | Humans | Hepatocytes - pathology | Antineoplastic Agents - therapeutic use | Liver Neoplasms - therapy | Hepatocytes - metabolism | Amyloid Neuropathies, Familial - therapy | RNA, Messenger - metabolism | Lipids - chemistry | Atherosclerosis - therapy | Carcinoma, Hepatocellular - genetics | RNA, Messenger - administration & dosage | Plasmids - genetics | Liver Neoplasms - pathology | Hepatocytes - drug effects | Atherosclerosis - pathology | Hepatitis B - therapy | Liver Neoplasms - genetics | Amyloid Neuropathies, Familial - genetics | RNA, Messenger - genetics | Hepatitis B - pathology | Clinical Trials as Topic | Antineoplastic Agents - chemistry | Plasmids - metabolism | Amyloid Neuropathies, Familial - pathology | Atherosclerosis - metabolism | Animals | Lipids - pharmacokinetics | Carcinoma, Hepatocellular - pathology | Liver Neoplasms - metabolism | Carcinoma, Hepatocellular - therapy | Nanoparticles - administration & dosage | RNA, Small Interfering - administration & dosage | Drug Delivery Systems - methods | Plasmids - administration & dosage | Carcinoma, Hepatocellular - metabolism | Genetic Therapy - methods | RNA, Small Interfering - metabolism | Drugs | Drug delivery systems | Ethanol | Advantages | Transthyretin | Lipids | Breast cancer | Ovarian cancer | Nanoparticles | Proteins | Gene silencing | Liver cancer | Hepatocytes | Plasmids | Amyloidosis | Polymers | Gene therapy | Deoxyribonucleic acid--DNA | Index Medicus | Review
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6. Full Text Restrictive Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy
by Muchtar, Eli and Blauwet, Lori A and Gertz, Morie A
Circulation research, ISSN 0009-7330, 09/2017, Volume 121, Issue 7, pp. 819 - 837
Cardiomyopathies | Amyloidosis | Hemochromatosis | Diagnosis | Sarcoidosis | Cardiac & Cardiovascular Systems | Peripheral Vascular Disease | Life Sciences & Biomedicine | Hematology | Cardiovascular System & Cardiology | Science & Technology | Predictive Value of Tests | Genetic Predisposition to Disease | Prognosis | Ventricular Dysfunction | Humans | Risk Factors | Cardiomyopathy, Restrictive - diagnosis | Myocardium - pathology | Genetic Markers | Cardiomyopathy, Restrictive - therapy | Molecular Diagnostic Techniques | Phenotype | Animals | Biopsy | Cardiac Imaging Techniques | DNA Mutational Analysis | Cardiomyopathy, Restrictive - genetics | Mutation | Cardiomyopathy, Restrictive - physiopathology | Index Medicus
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7. Full Text Amyloid fibril proteins and amyloidosis: chemical identification and clinical classification International Society of Amyloidosis 2016 Nomenclature Guidelines
by Sipe, Jean D and Benson, Merrill D and Buxbaum, Joel N and Ikeda, Shu-ichi and Merlini, Giampaolo and Saraiva, Maria J. M and Westermark, Per
Amyloid, ISSN 1350-6129, 10/2016, Volume 23, Issue 4, pp. 209 - 213
inclusion body | nomenclature | amyloidosis | Amyloid fibril | amyloid protein | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, General & Internal | General & Internal Medicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Staining and Labeling - methods | Prealbumin - genetics | Guidelines as Topic | Apolipoprotein C-III - chemistry | Protein Precursors - chemistry | Humans | Apolipoprotein C-III - metabolism | tau Proteins - metabolism | Amyloidosis - diagnosis | Amyloidogenic Proteins - chemistry | Apolipoprotein C-III - genetics | Apolipoprotein C-II - genetics | tau Proteins - chemistry | Sequence Analysis, Protein | tau Proteins - genetics | Amyloidosis - genetics | Amyloidosis - classification | Prealbumin - chemistry | alpha-Synuclein - genetics | Apolipoprotein C-II - chemistry | Amyloidogenic Proteins - genetics | Biomarkers - metabolism | Gene Expression | Protein Precursors - genetics | Amyloidosis - pathology | Terminology as Topic | Protein Precursors - metabolism | alpha-Synuclein - chemistry | Amyloidogenic Proteins - metabolism | Prealbumin - metabolism | Apolipoprotein C-II - metabolism | Birefringence | Congo Red - chemistry | alpha-Synuclein - metabolism | Coloring Agents - chemistry | Index Medicus
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8. Full Text Microglial translational profiling reveals a convergent APOE pathway from aging, amyloid, and tau
by Kang, Silvia S and Ebbert, Mark T.W and Baker, Kelsey E and Cook, Casey and Wang, Xuewei and Sens, Jonathon P and Kocher, Jeanne-Pierre and Petrucelli, Leonard and Fryer, John D
The Journal of experimental medicine, ISSN 0022-1007, 2018, Volume 215, Issue 9, pp. 2235 - 2245
Immunology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Chemokine CCL3 - immunology | tau Proteins - immunology | Chemokine CCL4 - genetics | Male | Alzheimer Disease - pathology | Signal Transduction - immunology | Aging - immunology | Microglia - immunology | tau Proteins - genetics | Aging - genetics | Chemokine CCL3 - genetics | Amyloidosis - immunology | Amyloidosis - genetics | Microglia - pathology | Female | Alzheimer Disease - immunology | Disease Models, Animal | Amyloid - genetics | Amyloidosis - pathology | Mice, Transgenic | Signal Transduction - genetics | Aging - pathology | Animals | Apolipoproteins E - genetics | Apolipoproteins E - immunology | Amyloid - immunology | Mice | Chemokine CCL4 - immunology | Alzheimer Disease - genetics | Index Medicus | 320 | 306 | s | 311
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9. Full Text Image Gallery: Cutaneous findings in an adult with X‐linked reticulate pigmentary disorder
by Xu, Z and Lin, Z
British journal of dermatology (1951), ISSN 0007-0963, 02/2019, Volume 180, Issue 2, pp. e37 - e37
Life Sciences & Biomedicine | Dermatology | Science & Technology | Amyloidosis, Familial - diagnosis | Amyloidosis, Familial - genetics | Humans | Pigmentation Disorders - diagnosis | Pigmentation Disorders - pathology | Skin Diseases, Genetic - pathology | Male | Amyloidosis, Familial - pathology | Genetic Diseases, X-Linked - diagnosis | Pigmentation Disorders - genetics | Skin Diseases, Genetic - genetics | DNA Mutational Analysis | Skin Diseases, Genetic - diagnosis | Genetic Diseases, X-Linked - pathology | Adult | Genetic Diseases, X-Linked - genetics | DNA Polymerase I - genetics | Skin - pathology | Skin | Genetic disorders
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10. Full Text Sex-specific genetic predictors of Alzheimer’s disease biomarkers
by Deming, Yuetiva and Dumitrescu, Logan and Barnes, Lisa L and Thambisetty, Madhav and Kunkle, Brian and Gifford, Katherine A and Bush, William S and Chibnik, Lori B and Mukherjee, Shubhabrata and De Jager, Philip L and Kukull, Walter and Huentelman, Matt and Crane, Paul K and Resnick, Susan M and Keene, C Dirk and Montine, Thomas J and Schellenberg, Gerard D and Haines, Jonathan L and Zetterberg, Henrik and Blennow, Kaj and Larson, Eric B and Johnson, Sterling C and Albert, Marilyn and Moghekar, Abhay and del Aguila, Jorge L and Fernandez, Maria Victoria and Budde, John and Hassenstab, Jason and Fagan, Anne M and Riemenschneider, Matthias and Petersen, Ronald C and Minthon, Lennart and Chao, Michael J and Van Deerlin, Vivianna M and Lee, Virginia M.-Y and Shaw, Leslie M and Trojanowski, John Q and Peskind, Elaine R and Li, Gail and Davis, Lea K and Sealock, Julia M and Cox, Nancy J and Goate, Alison M and Bennett, David A and Schneider, Julie A and Jefferson, Angela L and Cruchaga, Carlos and Hohman, Timothy J and Alzheimer's Dis Neuroimaging and Alzheimer Dis Genetics C and Alzheimer’s Disease Neuroimaging Initiative (ADNI) and Alzheimer Disease Genetics Consortium (ADGC) and The Alzheimer Disease Genetics Consortium (ADGC) and Sahlgrenska akademin and Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi and Göteborgs universitet and Gothenburg University and Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry and Sahlgrenska Academy
Acta neuropathologica, ISSN 0001-6322, 12/2018, Volume 136, Issue 6, pp. 857 - 872
Pathology | Neurosciences | Medicine & Public Health | Alzheimer disease | Neuropathology | Tau | Cerebrospinal fluid biomarkers | Amyloid | APOE | Sex difference | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | Male | Alzheimer Disease - pathology | Brain - metabolism | Amyloidosis - genetics | Aged, 80 and over | Amyloid beta-Peptides - cerebrospinal fluid | Female | Amyloidosis - complications | Claudins - genetics | Genome-Wide Association Study | Peptide Fragments - cerebrospinal fluid | Serpins - genetics | Brain - physiopathology | Genotype | tau Proteins - cerebrospinal fluid | Transcription Factors - genetics | Alzheimer Disease - cerebrospinal fluid | Mutation - genetics | Muscle Proteins - genetics | Apolipoproteins E - genetics | Sex Factors | Brain - pathology | Biomarkers - cerebrospinal fluid | Alzheimer Disease - genetics | Religious orders | Sex differences | Gender differences | Genomes | Cerebrospinal fluid | Prefrontal cortex | Males | Gene expression | Tau protein | Autopsy | Genetic analysis | Biomarkers | Aging | Amyloidosis | Females | Alzheimer's disease | Plaques | Index Medicus | cerebrospinal fluid biomarkers | amyloid | sex difference | tau | neuropathology | Neurovetenskaper
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