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Annual Review of Neuroscience, ISSN 0147-006X, 2007, Volume 30, Issue 1, pp. 575 - 621
The discovery that expansion of unstable repeats can cause a variety of neurological disorders has changed the landscape of disease-oriented research for... 
Unstable repeats | Polyglutamine | Ataxin | Frataxin | Myotonic dystrophy | Huntington disease | Ataxia | Fragile X syndrome | Mental retardation | Spinal bulbar muscular atrophy | SPINOCEREBELLAR ATAXIA TYPE-1 | UBIQUITIN-PROTEASOME SYSTEM | unstable repeats | fragile X syndrome | polyglutamine | NEUROSCIENCES | X MENTAL-RETARDATION | frataxin | myotonic dystrophy | mental retardation | HUNTINGTONS-DISEASE GENE | ataxia | spinal bulbar muscular atrophy | MACHADO-JOSEPH-DISEASE | ataxin | TRANSGENIC MOUSE MODEL | DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY | DOMINANT CEREBELLAR-ATAXIA | BULBAR MUSCULAR-ATROPHY | FMR1 KNOCKOUT MICE | Fragile X Syndrome - genetics | Heredodegenerative Disorders, Nervous System - genetics | Genetic Predisposition to Disease - genetics | Cerebellar Ataxia - metabolism | Brain - physiopathology | Fragile X Syndrome - physiopathology | Humans | Peptides - genetics | Fragile X Syndrome - metabolism | Heredodegenerative Disorders, Nervous System - physiopathology | Mutation - genetics | Huntington Disease - metabolism | Brain - metabolism | Cerebellar Ataxia - physiopathology | Animals | Cerebellar Ataxia - genetics | Peptides - metabolism | Huntington Disease - genetics | Trinucleotide Repeat Expansion - genetics | Heredodegenerative Disorders, Nervous System - metabolism | Huntington Disease - physiopathology | Trinucleotide repeats | Care and treatment | Genetic aspects | Diagnosis
Journal Article
2004, Methods in molecular biology, ISBN 1588292436, Volume 277, xii, 342
The discovery that trinucleotide repeats significantly influence the age of onset and severity of a variety of hereditary neurological disorders has opened the... 
Trinucleotide repeats | Laboratory manuals | Cytology | Cell Biology | Life Sciences
Book
Nature, ISSN 0028-0836, 09/2015, Volume 525, Issue 7567, pp. 56 - 61
Journal Article
Nature, ISSN 0028-0836, 09/2015, Volume 525, Issue 7567, pp. 129 - 133
The GGGGCC (G(4)C(2)) repeat expansion in a noncoding region of C9orf72 is the most common cause of sporadic and familial forms of amyotrophic lateral... 
C9FTD/ALS | MULTIDISCIPLINARY SCIENCES | NUCLEAR-PORE COMPLEX | FRONTOTEMPORAL DEMENTIA | DISEASE | MESSENGER-RNA EXPORT | AMYOTROPHIC-LATERAL-SCLEROSIS | MUTATIONS | PROTEINS | HEXANUCLEOTIDE REPEAT | STEM-CELL MODELS | Protein Biosynthesis | Salivary Glands - pathology | DNA Repeat Expansion - genetics | Humans | Male | Neurons - cytology | Drosophila melanogaster - genetics | Salivary Glands - cytology | RNA - genetics | Drosophila melanogaster - metabolism | RNA Transport - genetics | Female | C9orf72 Protein | Neurons - metabolism | Induced Pluripotent Stem Cells - cytology | Muscles - metabolism | Active Transport, Cell Nucleus - genetics | Frontotemporal Dementia - pathology | Induced Pluripotent Stem Cells - metabolism | RNA - metabolism | Eye - metabolism | Frontotemporal Dementia - genetics | Animals, Genetically Modified | Amyotrophic Lateral Sclerosis - genetics | Nuclear Pore - pathology | Drosophila melanogaster - cytology | Nuclear Pore - genetics | Nuclear Pore - metabolism | Open Reading Frames - genetics | Proteins - genetics | Amyotrophic Lateral Sclerosis - pathology | Phenotype | Animals | HeLa Cells | Salivary Glands - metabolism | Muscles - cytology | Trinucleotide repeats | Genetic research | Genetic aspects | Research | Biological transport | Cytoplasm | Proteins | Insects | Toxicity | Pathogenesis | Amyotrophic lateral sclerosis | Chromosomes | Dementia | RAN translation | genetic screen | repeat expansion | Drosophila | DPR | FTD | ALS | C9ORF72 | nuclear pore
Journal Article