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Arthritis & Rheumatology, ISSN 2326-5191, 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 | 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
Muscle & Nerve, ISSN 0148-639X, 05/2016, Volume 53, Issue 5, pp. 762 - 769
IntroductionHereditary gelsolin amyloidosis (GA) is a rare condition caused by the gelsolin gene mutation. The diagnostic triad includes corneal lattice... 
cranial neuropathy | amyloidosis | gelsolin | bilateral facial paresis | facial paresis grading | Facial paresis grading | Amyloidosis | Gelsolin | Cranial neuropathy | Bilateral facial paresis | GSN GENE | NEUROSCIENCES | FINNISH TYPE FAF | POLYNEUROPATHY TYPE-IV | CLINICAL NEUROLOGY | LATTICE CORNEAL-DYSTROPHY | HEARING-LOSS | NEUROPATHY | FAMILIAL AMYLOIDOSIS | MERETOJAS SYNDROME | HEREDITARY AMYLOIDOSIS | MUTATION | Vestibulocochlear Nerve Diseases - physiopathology | Cutis Laxa - etiology | Humans | Middle Aged | Vestibulocochlear Nerve Diseases - etiology | Oculomotor Nerve Diseases - etiology | Male | Amyloid Neuropathies, Familial - physiopathology | Facial Nerve Diseases - etiology | Hypoglossal Nerve Diseases - physiopathology | Corneal Dystrophies, Hereditary - physiopathology | Facial Paralysis - physiopathology | Aged, 80 and over | Adult | Female | Electromyography | Amyloidosis - complications | Cranial Nerve Diseases - physiopathology | Hypoglossal Nerve Diseases - etiology | Trigeminal Nerve Diseases - physiopathology | Trigeminal Nerve Diseases - etiology | Amyloid Neuropathies, Familial - complications | Amyloidosis - physiopathology | Neural Conduction | Facial Nerve Diseases - physiopathology | Oculomotor Nerve Diseases - physiopathology | Facial Muscles - physiopathology | Cranial Nerve Diseases - etiology | Corneal Dystrophies, Hereditary - complications | Aged | Facial Paralysis - etiology | Development and progression | Paralysis, Facial | Gene mutations | Wood products | Workshops | Index Medicus
Journal Article
Brain Pathology, ISSN 1015-6305, 01/2015, Volume 25, Issue 1, pp. 24 - 32
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 8, pp. e23789 - e23789
Evidence of reduced blood-brain barrier (BBB) integrity preceding other Alzheimer's disease (AD) pathology provides a strong link between cerebrovascular... 
VASCULAR RISK-FACTORS | MULTIPLE-SCLEROSIS | WHITE-MATTER | IN-VIVO | BIOLOGY | A-BETA PEPTIDE | PRECURSOR PROTEIN | PROGNOSTIC MARKERS | TRANSGENIC MOUSE MODEL | ENDOTHELIAL GROWTH-FACTOR | ENDOGLIN CD105 | Microvessels - physiopathology | Humans | Blood-Brain Barrier - physiopathology | Microvessels - pathology | Male | Neovascularization, Pathologic - complications | Alzheimer Disease - pathology | Neovascularization, Pathologic - pathology | Brain - blood supply | Amyloid - metabolism | Female | Neovascularization, Pathologic - physiopathology | Tight Junctions - metabolism | Alzheimer Disease - physiopathology | Signal Transduction | Brain - physiopathology | Mice, Transgenic | Permeability | Aging - pathology | Blood-Brain Barrier - pathology | Animals | Brain - pathology | Mice | Tight Junctions - pathology | Apoptosis | Brain | Advertising executives | Amyloid beta-protein | Amyloidosis | Alzheimer's disease | Amyloidogenesis | Health sciences | Nuclear magnetic resonance--NMR | Biomedical research | Laboratories | Zoology | Colorectal cancer | Membrane permeability | Proteins | Macular degeneration | Cerebrovascular system | Angiogenesis | Missense mutation | Immunology | Blood-brain barrier | Autopsy | Neurodegeneration | Rodents | Animal tissues | Degeneration | Vascular endothelial growth factor | Genotypes | Neurodegenerative diseases | Inflammation | Zonula occludens-1 protein | Amyloid precursor protein | Pathology | Hypotheses | Brain research | Hypoxia | Microvasculature | Mutation | Alzheimers disease | Tumors | Dementia | Integrity | Index Medicus | Nuclear magnetic resonance | NMR
Journal Article
Nature Cell Biology, ISSN 1465-7392, 02/2009, Volume 11, Issue 2, pp. 219 - 225
Sequence-specific nucleated protein aggregation is closely linked to the pathogenesis of most neurodegenerative diseases and constitutes the molecular basis of... 
IN-VITRO | PROTEIN MISFOLDING DISEASES | PEPTIDES | FIBRILS | MECHANISM | TOXICITY | HUNTINGTIN | PROPAGATION | YEAST PRION | CELL BIOLOGY | Prion Diseases - physiopathology | Humans | Cell Communication - physiology | Cytoplasm - metabolism | Cytoplasm - pathology | Peptides - metabolism | Peptides - toxicity | Amyloid - biosynthesis | Disease Transmission, Infectious | Inclusion Bodies - metabolism | Huntington Disease - physiopathology | Cell Line | Neurodegenerative Diseases - pathology | Amyloidosis - pathology | Amyloidosis - physiopathology | Neurodegenerative Diseases - metabolism | Neurofibrils - pathology | Huntington Disease - metabolism | Endocytosis - physiology | Neurodegenerative Diseases - physiopathology | Proteasome Endopeptidase Complex - ultrastructure | Trinucleotide Repeat Expansion - genetics | Proteasome Endopeptidase Complex - metabolism | Amyloidosis - metabolism | Prion Diseases - metabolism | Neurofibrils - metabolism | Amyloid beta-protein | Physiological aspects | Nervous system | Genetic aspects | Degeneration | Research | Glutamine | Index Medicus | Huntington Disease | Neurodegenerative Diseases | Peptides | Neurofibrils | Cell Communication | Proteasome Endopeptidase Complex | Trinucleotide Repeat Expansion | Life Sciences | Prion Diseases | Endocytosis | Inclusion Bodies | Amyloid | Amyloidosis | Cytoplasm
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2015, Volume 112, Issue 8, pp. E881 - E890
Cerebral amyloid angiopathy (CAA) is characterized by deposition of amyloid β peptide (Aβ) within walls of cerebral arteries and is an important cause of... 
Alzheimer' s disease | Cerebral amyloid angiopathy | Reactive oxygen species | Vasomotor dysfunction | NADPH oxidase | OXIDATIVE STRESS | VESSEL DYSFUNCTION | ALZHEIMERS-DISEASE | MULTIDISCIPLINARY SCIENCES | vasomotor dysfunction | cerebral amyloid angiopathy | PROTEIN TRANSGENIC MICE | reactive oxygen species | MOUSE MODEL | IN-VIVO | PRECURSOR PROTEIN | Alzheimer's disease | NADPH OXIDASES | FUNCTIONAL HYPEREMIA | CEREBROVASCULAR ENDOTHELIAL DYSFUNCTION | Microglia - metabolism | Reactive Oxygen Species - metabolism | Humans | Astrocytes - pathology | Myocytes, Smooth Muscle - pathology | Vasomotor System - drug effects | Spin Labels | Cerebral Hemorrhage - physiopathology | Apolipoproteins E - metabolism | Cerebral Amyloid Angiopathy - complications | Cyclic N-Oxides - pharmacology | Vasomotor System - physiopathology | Acetophenones - pharmacology | Microglia - pathology | Myocytes, Smooth Muscle - drug effects | Myocytes, Smooth Muscle - metabolism | Astrocytes - drug effects | Cricetinae | Microglia - drug effects | Cerebral Amyloid Angiopathy - physiopathology | Brain - physiopathology | Mice, Inbred C57BL | Cerebral Arteries - physiopathology | Mice, Transgenic | Aging - pathology | Brain - drug effects | Cerebral Amyloid Angiopathy - pathology | Muscle, Smooth, Vascular - pathology | Animals | Vasomotor System - pathology | Cerebral Arteries - pathology | Brain - pathology | Oxidative Stress - drug effects | Cerebral Hemorrhage - complications | Cerebral Hemorrhage - pathology | Astrocytes - metabolism | Development and progression | Amyloidosis | Genetic aspects | Health aspects | Amyloid beta-protein | Brain | Oxidative stress | Oxygen | Pathogenesis | Rodents | Aging | Hemorrhage | Index Medicus | Biological Sciences | PNAS Plus
Journal Article
Muscle and Nerve, ISSN 0148-639X, 05/2010, Volume 41, Issue 5, pp. 679 - 684
Hereditary amyloidosis of the Finnish type (HAF, or familial amyloid polyneuropathy type IV) is an autosomal dominant disease that has been described most... 
Corneal lattice dystrophy | Familial amyloid neuropathy | Gelsolin | Facial palsy | Hereditary amyloidosis | facial palsy | SUBSTITUTION | POLYNEUROPATHY | LIVER-TRANSPLANTATION | GELSOLIN AMYLOIDOSIS | gelsolin | familial amyloid neuropathy | corneal lattice dystrophy | FAF | NEUROSCIENCES | CLINICAL NEUROLOGY | GENE | MUTATION | hereditary amyloidosis | EXPERIENCE | Peripheral Nervous System Diseases - diagnosis | Genetic Testing | Cranial Nerve Diseases - genetics | Humans | Middle Aged | Facial Nerve Diseases - metabolism | Male | Peripheral Nervous System Diseases - physiopathology | Amyloid Neuropathies, Familial - physiopathology | Young Adult | Electrodiagnosis | Hypoglossal Nerve Diseases - physiopathology | Corneal Dystrophies, Hereditary - physiopathology | DNA Mutational Analysis | Inheritance Patterns - genetics | Adult | Female | Peripheral Nerves - metabolism | Peripheral Nervous System Diseases - genetics | Cranial Nerve Diseases - physiopathology | Disability Evaluation | Amyloid Neuropathies, Familial - genetics | Cranial Nerves - metabolism | Genotype | Oculomotor Nerve Diseases - diagnosis | Corneal Dystrophies, Hereditary - diagnosis | Facial Nerve Diseases - physiopathology | Corneal Dystrophies, Hereditary - metabolism | Hypoglossal Nerve Diseases - metabolism | Mutation - genetics | Oculomotor Nerve Diseases - physiopathology | Cranial Nerve Diseases - diagnosis | Peripheral Nerves - physiopathology | Neurologic Examination | Genetic Markers - genetics | Adolescent | Finland | Cranial Nerves - physiopathology | Aged | Gelsolin - genetics | Germany | Oculomotor Nerve Diseases - metabolism | Amyloid Neuropathies, Familial - diagnosis | Index Medicus
Journal Article
Journal Article
Echocardiography, ISSN 0742-2822, 11/2018, Volume 35, Issue 11, pp. 1755 - 1763
Journal Article
Neurology, ISSN 0028-3878, 10/2016, Volume 87, Issue 15, pp. 1575 - 1582
Journal Article
Nephrology, ISSN 1320-5358, 07/2018, Volume 23, Issue 7, pp. 640 - 645
Journal Article
Heart, ISSN 1355-6037, 10/2012, Volume 98, Issue 19, pp. 1442 - 1448
Journal Article