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Journal Article
Trends in Molecular Medicine, ISSN 1471-4914, 2016, Volume 22, Issue 7, pp. 615 - 628
... to degradation of key RNAs and pathologies due to RNP loss in ‘RNP hypo-assembly diseases’. Examples of these diseases include spinal muscular atrophy ( SMA... 
Pathology | stress granules | dyskeratosis congenita | spinal muscular atrophy | RNA quality control | RNP assembly | therapy | MEDICINE, RESEARCH & EXPERIMENTAL | MYOTONIC-DYSTROPHY TYPE-1 | PRECURSOR RIBOSOMAL-RNA | C9ORF72 REPEAT EXPANSIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | POLY(A)-SPECIFIC RIBONUCLEASE PARN | CARTILAGE-HAIR HYPOPLASIA | AMYOTROPHIC-LATERAL-SCLEROSIS | DISORDER MOPD I | CELL BIOLOGY | EUKARYOTIC STRESS GRANULES | SPINAL MUSCULAR-ATROPHY | DYSKERATOSIS-CONGENITA | Immunologic Deficiency Syndromes - pathology | Microcephaly - genetics | Scoliosis - genetics | Hair - abnormalities | Humans | Walker-Warburg Syndrome - genetics | Muscular Dystrophies - genetics | Ribonucleoproteins - analysis | Dwarfism - metabolism | Osteochondrodysplasias - genetics | Walker-Warburg Syndrome - metabolism | Hair - pathology | Muscular Atrophy, Spinal - metabolism | Parkinson Disease - pathology | Muscular Dystrophies - metabolism | Hirschsprung Disease - pathology | Fetal Growth Retardation - metabolism | Ribonucleoproteins - metabolism | RNA Stability | Muscular Atrophy, Spinal - pathology | Fetal Growth Retardation - pathology | Osteochondrodysplasias - congenital | Mutation | Osteochondrodysplasias - metabolism | Osteochondrodysplasias - pathology | Hirschsprung Disease - genetics | Hair - metabolism | Fetal Growth Retardation - genetics | Dyskeratosis Congenita - genetics | Scoliosis - pathology | Muscular Atrophy, Spinal - genetics | Microcephaly - pathology | Ribonucleoproteins - genetics | Dyskeratosis Congenita - metabolism | Parkinson Disease - metabolism | Dwarfism - pathology | Walker-Warburg Syndrome - pathology | Mallory Bodies - genetics | Mallory Bodies - pathology | Microcephaly - metabolism | Scoliosis - metabolism | Parkinson Disease - genetics | Muscular Dystrophies - pathology | Dwarfism - genetics | Mallory Bodies - metabolism | Animals | Dyskeratosis Congenita - pathology | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - metabolism | Hirschsprung Disease - metabolism | RNA | Therapy | Spinal Muscular Atrophy | Stress granules | Dyskeratosis Congenita
Journal Article
Cold Spring Harbor perspectives in biology, ISSN 1943-0264, 2017, Volume 9, Issue 7, p. a028035
Journal Article
Annals of neurology, ISSN 0364-5134, 2013, Volume 74, Issue 1, pp. 20 - 38
Journal Article
Acta neuropathologica, ISSN 1432-0533, 2014, Volume 128, Issue 6, pp. 755 - 766
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2015, Volume 10, Issue 10, p. e0140311
Journal Article