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Arthritis & rheumatology (Hoboken, N.J.), ISSN 2326-5191, 11/2016, Volume 68, Issue 11, pp. 2795 - 2805
Objective Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes... 
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
PLoS genetics, ISSN 1553-7404, 12/2013, Volume 9, Issue 12, pp. e1003977 - e1003977
Cilia are microtubule-based cell appendages, serving motility, chemo-/mechano-/photo- sensation, and developmental signaling functions. Cilia are comprised of... 
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Polycystic Kidney Diseases - genetics | Cytoskeletal Proteins - genetics | Humans | Biological Transport, Active - genetics | Cerebellum - abnormalities | Membranes - metabolism | Polycystic Kidney Diseases - pathology | Retinitis Pigmentosa | Cerebellar Diseases - pathology | Bardet-Biedl Syndrome - pathology | Kidney Diseases, Cystic - genetics | Bardet-Biedl Syndrome - genetics | Cytoskeletal Proteins - metabolism | ADP-Ribosylation Factors - metabolism | ADP-Ribosylation Factors - genetics | Encephalocele - genetics | Caenorhabditis elegans - metabolism | Caenorhabditis elegans - genetics | Abnormalities, Multiple | Transcription Factors - genetics | Eye Abnormalities - genetics | Cilia - metabolism | Cilia - genetics | Kidney Diseases, Cystic - pathology | Transcription Factors - metabolism | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Encephalocele - pathology | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Ciliary Motility Disorders - genetics | Cilia and ciliary motion | Biological transport, Active | Joubert syndrome | Physiological aspects | Genetic research | Genetic aspects | Research | Health aspects | Index Medicus | Proteins | Studies | Genotype & phenotype | Membranes | Motility | Peptides | Proteomics | Diffusion | Experiments
Journal Article
PloS one, ISSN 1932-6203, 08/2008, Volume 3, Issue 8, pp. e3088 - e3088
.... Despite recent improvements in cure rates, prediction of disease outcome remains a major challenge and survivors suffer from serious therapy-related side-effects... 
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Nucleic Acid Hybridization | Signal Transduction | Genomics | Humans | Transforming Growth Factor beta - physiology | Child, Preschool | Male | Gene Expression Profiling | Cerebellar Neoplasms - genetics | DNA Mutational Analysis | Medulloblastoma - pathology | Adolescent | RNA, Neoplasm - genetics | Adult | Female | Cerebellar Neoplasms - pathology | DNA, Neoplasm - genetics | Cerebellar Neoplasms - classification | Medulloblastoma - genetics | Child | Medulloblastoma - classification | Care and treatment | Prognosis | RNA | Medulloblastoma | Analysis | Genes | Brain tumors | Genetic research | Cytogenetics | Metastasis | Molecular biology | Gene expression | Brain | Pediatrics | Wnt protein | Neuropathology | Pathogenesis | Copy number | Brain cancer | Clinical trials | Oncology | Hybridization | Cancer therapies | Metastases | β-catenin | Transgenic animals | Rodents | Classification | Genetics | Diagnosis | Children | Monosomy | Chromosome 17 | Deoxyribonucleic acid--DNA | Medical research | Antigens | Integrated approach | Chromosome 6 | Histology | Patients | Quality of life | Studies | Pathology | Side effects | Brain research | Algorithms | Hedgehog protein | Mutation | Aberration | Chromosome aberrations | Tumors | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
PloS one, ISSN 1932-6203, 01/2013, Volume 8, Issue 1, pp. e52396 - e52396
Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA3) is an autosomal dominantly-inherited neurodegenerative disorder caused by the over-repetition of a CAG codon in the MJD1 gene... 
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Locomotion - genetics | Ataxin-3 | Humans | Nerve Tissue Proteins - deficiency | Machado-Joseph Disease - complications | Repressor Proteins - deficiency | Nuclear Proteins - deficiency | Anxiety - complications | Nuclear Proteins - genetics | Machado-Joseph Disease - pathology | Exploratory Behavior | Mice, Inbred C57BL | Gene Silencing | Repressor Proteins - genetics | Mice, Transgenic | Nerve Tissue Proteins - genetics | Intranuclear Inclusion Bodies - pathology | Motor Activity - genetics | Animals | Alleles | Machado-Joseph Disease - physiopathology | Mice | Mutation | Purkinje Cells - pathology | Machado-Joseph Disease - genetics | Nervous system diseases | Genetic aspects | Genetic engineering | Viral genetics | Cerebellar ataxia | Analysis | Cerebellum | Huntingtons disease | Brain | Neurosciences | Calbindin | Gait | Neuropathology | Pathogenesis | Biology | Proteins | Ataxin | Neurodegeneration | Transgenic animals | Rodents | Inclusion bodies | Ataxia | Trinucleotide repeat diseases | Quantitative analysis | Polyglutamine | Neurodegenerative diseases | RNA-mediated interference | Exploratory behavior | Abnormalities | Medical treatment | Transgenic mice | Trinucleotide repeats | Ribonucleic acid--RNA | Activity patterns | Thickness | Gene silencing | Machado-Joseph disease | Brain research | Pharmacy | DARPP-32 protein | Immunoreactivity | Index Medicus | RNA | Ribonucleic acid
Journal Article
Human genetics, ISSN 0340-6717, 2015, Volume 134, Issue 1, pp. 123 - 126
Journal Article
PLoS genetics, ISSN 1553-7404, 04/2017, Volume 13, Issue 4, pp. e1006656 - e1006656
Journal Article
Human genetics, ISSN 0340-6717, 3/2014, Volume 133, Issue 3, pp. 367 - 377
Journal Article
Neuromuscular disorders : NMD, ISSN 0960-8966, 2009, Volume 19, Issue 4, pp. 270 - 274
Journal Article