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2006, 2nd ed., ISBN 0123694620, 551
This book describes everything about DNA repeat instability and neurological disorders, covering molecular mechanisms of repeat expansion, pathogenic mechanisms, clinical phenotype, parental gender... 
Nervous system | Biology, life sciences | Neurogenetics
eBook
Nature (London), ISSN 1476-4687, 2015, Volume 525, Issue 7567, pp. 56 - 61
Journal Article
Nature (London), ISSN 1476-4687, 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 sclerosis and frontotemporal dementia(1,2... 
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
2018, ISBN 0444632336, Volume 147
More than 40 diseases, most of which primarily affect the nervous system, are caused by expansions of simple sequence repeats dispersed throughout the human genome... 
myotonic dystrophy | repeat instability | expanded repeats | trinucleotide | anticipation | polyglutamine diseases | C9ORF72 | spinocerebellar ataxia | Nervous System Diseases - genetics | Repetitive Sequences, Nucleic Acid - genetics | Humans | Trinucleotide | Spinocerebellar ataxia
Book Chapter
PLoS ONE, ISSN 1932-6203, 11/2012, Volume 7, Issue 11, p. e49083
.... We tested for an association between an intronic TGC trinucleotide repeat in TCF4 and FECD by determining repeat length in 66 affected participants with severe FECD and 63 participants with normal... 
PATHOGENESIS | APOPTOSIS | CTG REPEAT | UNFOLDED PROTEIN RESPONSE | MENTAL-RETARDATION | ENDOTHELIAL DYSTROPHY | MULTIDISCIPLINARY SCIENCES | INHERITANCE | PITT-HOPKINS-SYNDROME | MISSENSE MUTATIONS | HAPLOINSUFFICIENCY | Blotting, Southern | Fuchs' Endothelial Dystrophy - genetics | Genetic Predisposition to Disease | Reproducibility of Results | Transcription Factor 4 | Humans | Middle Aged | Molecular Sequence Data | Male | Transcription Factors - genetics | Sequence Analysis, DNA | Case-Control Studies | Genome, Human - genetics | Microsatellite Repeats - genetics | Base Sequence | Alleles | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics | Aged, 80 and over | Trinucleotide Repeat Expansion - genetics | Female | Aged | Chromosomes, Human, Pair 18 - genetics | Genetic aspects | Single nucleotide polymorphisms | Genes | Analysis | Cornea | Transcription factors | Laboratories | Intellectual disabilities | Pathogenesis | Transplantation | Biochemistry | Single-nucleotide polymorphism | Kinases | Gene sequencing | Proteins | Primers | DNA repeat expansion | Southern blotting | Expansion | Chromosomes | Deoxyribonucleic acid--DNA | Edema | Health risks | Data processing | Patients | Endothelium | White blood cells | Corneal dystrophy | Dystrophy | Genetic testing | Molecular biology | DNA sequencing | Apoptosis | Polymorphism | Deoxyribonucleic acid | DNA
Journal Article