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Nature Neuroscience, ISSN 1097-6256, 08/2014, Volume 17, Issue 9, pp. 1156 - 1163
Journal Article
Arthritis and Rheumatology, ISSN 2326-5191, 11/2016, Volume 68, Issue 11, pp. 2795 - 2805
ObjectiveMevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe... 
MVK | HYPER-IGD | PERIODIC FEVER SYNDROME | ACIDURIA | HYPERIMMUNOGLOBULINEMIA-D | AUTOINFLAMMATORY DISEASES | MUTATIONS | SPECTRUM | RHEUMATOLOGY | Kinases | Genotype & phenotype | Cerebellum | Headache | Interleukin 1 receptor antagonist | etanercept | Consumers | Data processing | Fatigue | Inflammation | Macrophages | Mental retardation | Fever | Heterozygosity | Nonsteroidal antiinflammatory drugs | Lymphadenopathy | Mevalonate kinase | Cell activation | Remission | Amyloidosis | Children | Mutation | Age | Metabolic disorders | Steroid hormones | Genotypes | 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
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2013, Volume 8, Issue 2, pp. e55227 - e55227
Background/Aims: Familial Mediterranean Fever (FMF) has traditionally been considered to be an autosomal-recessive disease, however, it has been observed that... 
RHEUMATOID-ARTHRITIS | AA-AMYLOIDOSIS | FMF PATIENTS | SERUM AMYLOID A1 | INTERLEUKIN-1-BETA | MULTIDISCIPLINARY SCIENCES | DISEASE | INFLAMMASOME | SECONDARY | MUTATIONS | GENE POLYMORPHISMS | Disease | Interleukin | Single-nucleotide polymorphism | Family medical history | Population genetics | Proteins | Interleukin 1 | Population | Tumor necrosis factor-TNF | Genetic loci | Familial Mediterranean fever | Amyloid | Genotypes | Public health | Variant genotypes | Internal medicine | Inflammasomes | Interleukin 1 receptor antagonist | Rheumatology | Inflammation | Environmental factors | Patients | Amyloid proteins | Fever | Medicine | Studies | Polymerase chain reaction | Hospitals | Pyrin protein | Gene frequency | Rheumatoid arthritis | Alleles | Amyloidosis | Mutation | Gene Frequency - genetics | Genetic Predisposition to Disease | Demography | Humans | Japan | Asian Continental Ancestry Group - genetics | Familial Mediterranean Fever - genetics | Genetic Loci - genetics | Interleukin 1 Receptor Antagonist Protein - genetics | Male | Serum Amyloid A Protein - genetics | Interleukin-1beta - genetics | Mutation - genetics | Case-Control Studies | Polymorphism, Single Nucleotide - genetics | Adult | Female | Disease susceptibility | Genetic aspects | Single nucleotide polymorphisms | Interleukins | Genes | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2001, Volume 69, Issue 2, pp. 301 - 314
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 11/2015, Volume 74, Issue 11, pp. 2043 - 2049
ObjectiveTo evaluate genetic, demographic and clinical features in patients with cryopyrin-associated periodic syndrome (CAPS) from the Eurofever Registry,... 
ARTICULAR SYNDROME | NLRP3 MUTATION | LOW-LEVEL MOSAICISM | SYNDROMES CAPS | GENETIC-HETEROGENEITY | MUCKLE-WELLS-SYNDROME | COLD AUTOINFLAMMATORY SYNDROME | RHEUMATOLOGY | CIAS1 MUTATIONS | AA AMYLOIDOSIS | MULTISYSTEM INFLAMMATORY DISEASE | Demography | Exanthema | Neurological complications | Familial Mediterranean Fever | Data processing | Skin | Inflammation | Mutation | Fever Syndromes | Fever | Age | Hearing loss | 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 | 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 | Chronic illnesses | Index Medicus
Journal Article
Journal of Molecular Biology, ISSN 0022-2836, 2008, Volume 380, Issue 2, pp. 425 - 436
Journal Article
Haematologica, ISSN 0390-6078, 12/2009, Volume 94, Issue 12, pp. 1708 - 1713
Journal Article
Journal Article
Amyloid, ISSN 1350-6129, 10/2016, Volume 23, Issue 4, pp. 209 - 213
The Nomenclature Committee of the International Society of Amyloidosis (ISA) met during the XVth Symposium of the Society, 3 July-7 July 2016, Uppsala, Sweden,... 
inclusion body | nomenclature | amyloidosis | Amyloid fibril | amyloid protein | MEDICINE, RESEARCH & EXPERIMENTAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | TRANSTHYRETIN AMYLOIDOSIS | MEDICINE, GENERAL & INTERNAL | TRANSMISSION | SEMEN | DISEASE | SENILE SYSTEMIC AMYLOIDOSIS | 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 | Basic Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Cell and Molecular Biology | Cell- och molekylärbiologi
Journal Article
PLoS Genetics, ISSN 1553-7390, 06/2010, Volume 6, Issue 6, pp. 1 - 15
Journal Article
Journal of Neuroscience, ISSN 0270-6474, 11/2008, Volume 28, Issue 48, pp. 12877 - 12886
Journal Article