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multisystem proteinopathy (35) 35
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Clinical Genetics, ISSN 0009-9163, 01/2018, Volume 93, Issue 1, pp. 119 - 125
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 2014, Volume 35, Issue 4, pp. 934 - e6
Journal Article
FORTSCHRITTE DER NEUROLOGIE PSYCHIATRIE, ISSN 0720-4299, 07/2018, Volume 86, Issue 7, pp. 434 - 438
Mutations of the human VCP gene, which encodes the Valosin Containing Protein (synonyms: p97, TER ATPase), are associated with various multi-systemic protein... 
VCP | IBMPFD | MULTISYSTEM PROTEINOPATHY | myopathy | PSYCHIATRY | frontotemporal dementia | MUTATIONS | BONE | CLINICAL NEUROLOGY
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 2014, Volume 35, Issue 4, pp. 934.e5 - 934.e6
Abstract hnRNPA2B1 and hnRNPA1 mutations have been recently identified by exome sequencing in three families presenting with multisystem proteinopathy (MSP), a... 
Neurology | Internal Medicine | Paget disease of bone | IBMPFD | VCP | TDP-43 | FTD | FTLD | Multisystem proteinopathy | Prion-like domain | ALS | hnrRNPA2B1 | hnRNPA1 | SQSTM1
Journal Article
Calcified Tissue International, ISSN 0171-967X, 8/2017, Volume 101, Issue 2, pp. 159 - 169
Paget disease of bone (PDB) is a common metabolic bone disease characterized by increased bone resorption and disorganized bone formation which affect single... 
Biochemistry, general | Life Sciences | HnRNPA2B1 | Paget disease | Orthopedics | Multisystem proteinopathy | MSP | Endocrinology | Cell Biology | PDB
Journal Article
Journal Article
Neuron, ISSN 0896-6273, 08/2017, Volume 95, Issue 4, pp. 808 - 816.e9
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are age-related neurodegenerative disorders with shared genetic etiologies and... 
low-complexity domain | liquid-liquid phase separation | TDP-43 | T cell-restricted intracellular antigen-1 | stress granules | frontotemporal dementia | amyotrophic lateral sclerosis | membrane-less organelle | frontotemporal lobar degeneration | MULTISYSTEM PROTEINOPATHY | DISTAL MYOPATHY | MESSENGER-RNA | LIQUID DROPLETS | SEQUENCING DATA | HEXANUCLEOTIDE REPEAT | DOMAINS | C9ORF72 | NEUROSCIENCES | FAMILIAL ALS | Humans | Middle Aged | Family Health | Male | Green Fluorescent Proteins - genetics | DNA-Binding Proteins - metabolism | Transfection | Time Factors | Adult | Female | T-Cell Intracellular Antigen-1 | Frontotemporal Dementia - pathology | Frontotemporal Dementia - genetics | Stress, Physiological - physiology | Green Fluorescent Proteins - metabolism | Poly(A)-Binding Proteins - genetics | Amyotrophic Lateral Sclerosis - genetics | Heterogeneous-Nuclear Ribonucleoprotein Group A-B - metabolism | RNA-Binding Protein FUS - metabolism | Mutation - genetics | Heterogeneous Nuclear Ribonucleoprotein A1 | Microscopy, Confocal | Amyotrophic Lateral Sclerosis - pathology | Aged | HeLa Cells | Nervous system diseases | RNA | Analysis | Genetic research | Development and progression | Amyotrophic lateral sclerosis | Genetic aspects | T cells | Binding proteins | Protein binding | Dementia | Disease | Pathogenesis | Genes | Disorders | Lymphocytes T | Phase transitions | Sclerosis | Proteins | Consortia | DNA-binding protein | Etiology | Dementia disorders | Age | Deoxyribonucleic acid--DNA | Phase transformations | Neurodegenerative diseases | Metabolism | Ribonucleic acid--RNA | Pathology | Phase separation | Mutation | Frontotemporal dementia | Dismantling | Phase transition | Index Medicus | T-cell-restricted intracellular antigen-1
Journal Article
Journal Article
Calcified Tissue International, ISSN 0171-967X, 5/2019, Volume 104, Issue 5, pp. 501 - 516
Journal Article
JOURNAL OF BIOLOGICAL CHEMISTRY, ISSN 0021-9258, 05/2019, Volume 294, Issue 22, pp. 8918 - 8929
Journal Article
Journal Article