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Journal
Nature Medicine, ISSN 1078-8956, 01/2019, Volume 25, Issue 1, p. 19
Journal Article
Nature, ISSN 0028-0836, 05/2010, Volume 465, Issue 7295, pp. 223 - 226
Amyotrophic lateral sclerosis (ALS) has its onset in middle age and is a progressive disorder characterized by degeneration of motor neurons of the primary... 
OPEN-ANGLE GLAUCOMA | COMPLEX | PROTEIN | GENE | MULTIDISCIPLINARY SCIENCES | EXPRESSION | NEMO | MYOSIN-VI | Haplotypes | Sequence Deletion | OPTN protein, human | Exons | Genes | Humans | Middle Aged | Amino acids | Male | Family medical history | Mutation, Missense | Young Adult | Amyotrophic Lateral Sclerosis | NF-kappa B | Base Sequence | Genetics | Adult | Female | Chromosomes | Child | Transcription Factor TFIIIA | protein TDP-43 | DNA-Binding Proteins | Amino Acid Sequence | Japan | Codon, Nonsense | Protein Transport | Studies | Mutant Proteins | Aged, 80 & over | Asian Continental Ancestry Group | Pedigree | Adolescent | Aged | Consanguinity | Polymorphism, Single Nucleotide | Mutation | Cytoplasm | superoxide dismutase 1 | Apoptosis | Superoxide Dismutase | Glaucoma | Drugs | Motor neurons | NF-B protein | Spinal cord | Sarcoma | Brain stem | Nonsense mutation | Transgenic mice | Antibodies | Amyotrophic lateral sclerosis | Superoxide dismutase | Cortex (motor) | Gene deletion | Angiogenin | FUS protein | Missense mutation | DNA-binding protein | Transfection | Inclusion bodies | Degeneration | Age | Amyotrophic Lateral Sclerosis - physiopathology | Transcription Factor TFIIIA - genetics | Cytoplasm - metabolism | NF-kappa B - metabolism | Cytoplasm - pathology | Transcription Factor TFIIIA - metabolism | Mutation, Missense - genetics | DNA-Binding Proteins - metabolism | Aged, 80 and over | Superoxide Dismutase - metabolism | NF-kappa B - agonists | NF-kappa B - antagonists & inhibitors | Amyotrophic Lateral Sclerosis - genetics | Mutant Proteins - genetics | Transcription Factor TFIIIA - chemistry | Exons - genetics | Mutant Proteins - metabolism | Mutation - genetics | Transcription Factor TFIIIA - analysis | Amyotrophic Lateral Sclerosis - pathology | Mutant Proteins - chemistry | Amyotrophic Lateral Sclerosis - metabolism | Polymorphism, Single Nucleotide - genetics | Superoxide Dismutase-1 | Mutant Proteins - analysis | Codon, Nonsense - genetics | Sequence Deletion - genetics | Cellular proteins | Gene mutations | Physiological aspects | Genetic aspects | Research | Health aspects | Risk factors | Index Medicus
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 03/2019, Volume 90, Issue 3, pp. e40 - e41
ObjectivesHereditary Transthyretin (ATTR) amyloidosis is a genetic disorder where insoluble amyloid fibrils deposit in heart, nerves and various... 
Mutation
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2018, Volume 50, Issue 11, pp. 1615 - 1615
In the version of this article published, the P values for the enrichment of single mutation categories were inadvertently not corrected for multiple testing.... 
Mutation
Journal Article
Mutation research, ISSN 0027-5107, 1964
Journal
Journal of the American College of Cardiology, ISSN 0735-1097, 10/2018, Volume 72, Issue 16, p. C170
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 10/2018, Volume 89, Issue 10, pp. A40 - A40
BackgroundMutations in the protein gelsolin result in hereditary systemic amyloidosis, characterised by onset of corneal lattice dystrophy in the third decade,... 
Mutation
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 10/2018, Volume 89, Issue 10, pp. A47 - A47
A blood-based biomarker able to track early neurodegeneration in Alzheimer’s disease would be valuable. Serum neurofilament-light (NfL) is elevated in familial... 
Mutation
Journal Article
Thorax, ISSN 0040-6376, 12/2017, Volume 72, Issue Suppl 3, p. A73
RationaleThere is increasing evidence of a link between abnormalities in the myeloid cell lineage and pulmonary arterial hypertension (PAH). Heterozygous... 
Mutation
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 02/2018, Volume 186, p. 170
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 12/2017, Volume 88, Issue Suppl 1, pp. A65 - A65
HSN1 secondary to SPTLC1/2 mutations is a rare, slowly progressive neuropathy leading to profound sensory loss and variable motor deficit. It is associated... 
Mutation
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 12/2017, Volume 88, Issue Suppl 1, pp. A59 - A59
A particular characteristic of Neurofibromatosis type 2 (NF2) is increased prevalence of mosaicism in the first affected generation. We describe the case of a... 
Mutation
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 12/2017, Volume 88, Issue Suppl 1, pp. A60 - A60
The leukodystrophies can present diagnostic challenges not least because of overlapping imaging and clinical phenotypes. We present an interesting patient with... 
Mutation
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 12/2017, Volume 88, Issue Suppl 1, pp. A35 - A35
Mutations in GNAL (DYT25) are a rare cause of adult-onset focal or segmental dystonia. Phenotypic heterogeneity is evident in the few cases described to date.... 
Mutation
Journal Article
Journal of human genetics, ISSN 1434-5161, 06/2019, Volume 64, Issue 8, pp. 711 - 719
Primary ciliary dyskinesia (PCD) is a rare phenotypically and genetically heterogeneous disorder resulting from abnormal cilia ultrastructure and function. Few... 
Journal Article
Journal of human genetics, ISSN 1434-5161, 06/2019, Volume 64, Issue 8, pp. 803 - 813
Rapid progress has recently been made in the elucidation of the genetic basis of childhood-onset inherited generalized dystonia (IGD) due to the implementation... 
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 06/2017, Volume 76, Issue Suppl 2, p. 723
BackgroundResistant – recurring pericarditis (RRP) is often associated with autoinflammatory syndromes. Conventional therapy with glucocorticoids and... 
Mutation
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 06/2017, Volume 76, Issue Suppl 2, p. 716
BackgroundRecommended colchicine dose in familial mediterranean fever (FMF) is 1–1.5 mg/day in adults. If necessary it can be increased up to 3 mg/day by... 
Mutation
Journal Article
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