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Nature neuroscience, ISSN 1097-6256, 09/2014, Volume 17, Issue 9, pp. 1156 - 1163
Journal Article
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
Journal Article
American journal of human genetics, ISSN 0002-9297, 2001, Volume 69, Issue 2, pp. 301 - 314
Journal Article
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
Journal Article
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
Journal Article
Amyloid, ISSN 1350-6129, 10/2016, Volume 23, Issue 4, pp. 209 - 213
Journal Article
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
Journal Article