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1. Full Text Genetic instabilities and neurological diseases
by Wells, Robert D and Ashizawa, Tetsuo
10/2011, ISBN 0123694620, 551
Neurogenetics | Nervous system
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2. Full Text The contribution of cis-elements to disease-associated repeat instability: clinical and experimental evidence
by Cleary, J.D and Pearson, C.E
Cytogenetic and Genome Research, ISSN 1424-8581, 2003, Volume 100, Issue 1-4, pp. 25 - 55
Paper | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Animals | Humans | Genetic Diseases, Inborn - genetics | Trinucleotide Repeat Expansion - genetics | Chromosome Fragile Sites - genetics | Female | Male | Mice | Genetic Diseases, Inborn - pathology | Mutation | Regulatory Sequences, Nucleic Acid - genetics | Disease Models, Animal | DNA repeat expansion | Index Medicus
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3. Full Text GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport
by Freibaum, Brian D and Lu, Yubing and Lopez-Gonzalez, Rodrigo and Kim, Nam Chul and Almeida, Sandra and Lee, Kyung-Ha and Badders, Nisha and Valentine, Marc and Miller, Bruce L and Wong, Philip C and Petrucelli, Leonard and Kim, Hong Joo and Gao, Fen-Biao and Taylor, J. Paul
Nature (London), ISSN 0028-0836, 09/2015, Volume 525, Issue 7567, pp. 129 - 133
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | 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 | Index Medicus | RAN translation | genetic screen | repeat expansion | Drosophila | DPR | FTD | ALS | C9ORF72 | nuclear pore
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4. Full Text The Unstable Repeats—Three Evolving Faces of Neurological Disease
by Nelson, David L and Orr, Harry T and Warren, Stephen T
Neuron (Cambridge, Mass.), ISSN 0896-6273, 03/2013, Volume 77, Issue 5, pp. 825 - 843
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Fragile X Syndrome - genetics | Trinucleotide Repeats | Animals | Bulbo-Spinal Atrophy, X-Linked - genetics | Humans | Myotonic Dystrophy - genetics | Trinucleotide Repeat Expansion - genetics | Nervous System Diseases - genetics | Microsatellite Repeats - genetics | Spinocerebellar Ataxias - genetics | Nervous system diseases | Genetic transcription | Gene mutations | Autism | Disease | Genes | Ataxia | Mutation | Males | Health risk assessment | Chromosomes | Index Medicus
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5. Full Text The C9orf72 repeat expansion disrupts nucleocytoplasmic transport
by Zhang, Ke and Donnelly, Christopher J and Haeusler, Aaron R and Grima, Jonathan C and Machamer, James B and Steinwald, Peter and Daley, Elizabeth L and Miller, Sean J and Cunningham, Kathleen M and Vidensky, Svetlana and Gupta, Saksham and Thomas, Michael A and Hong, Ingie and Chiu, Shu-Ling and Huganir, Richard L and Ostrow, Lyle W and Matunis, Michael J and Wang, Jiou and Sattler, Rita and Lloyd, Thomas E and Rothstein, Jeffrey D
Nature (London), ISSN 0028-0836, 09/2015, Volume 525, Issue 7567, pp. 56 - 61
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Neurons - pathology | DNA Repeat Expansion - genetics | Humans | GTPase-Activating Proteins - metabolism | Drosophila Proteins - metabolism | RNA - genetics | Brain - metabolism | Drosophila melanogaster - metabolism | Cell Nucleus - metabolism | Female | G-Quadruplexes | C9orf72 Protein | Neurons - metabolism | Induced Pluripotent Stem Cells - cytology | Active Transport, Cell Nucleus - genetics | Frontotemporal Dementia - pathology | Induced Pluripotent Stem Cells - metabolism | RNA - metabolism | Frontotemporal Dementia - genetics | Amyotrophic Lateral Sclerosis - genetics | Drosophila melanogaster - cytology | Nuclear Proteins - metabolism | Nuclear Pore - metabolism | Open Reading Frames - genetics | Proteins - genetics | Amyotrophic Lateral Sclerosis - pathology | Animals | Oligonucleotides, Antisense - genetics | Brain - pathology | Nuclear Pore - chemistry | Trinucleotide repeats | Genetic research | Genetic aspects | Research | Biological transport | Cytoplasm | Proteins | Studies | Insects | Neurodegeneration | Pathogenesis | Toxicity | Neurons | Adults | Index Medicus
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6. Full Text Trinucleotide repeat disorders
by Orr, Harry T and Zoghbi, Huda Y
Annual review of neuroscience, ISSN 0147-006X, 2007, Volume 30, Issue 1, pp. 575 - 621
Unstable repeats | Polyglutamine | Ataxin | Frataxin | Myotonic dystrophy | Huntington disease | Ataxia | Fragile X syndrome | Mental retardation | Spinal bulbar muscular atrophy | Neurology | Biological and medical sciences | Nervous system as a whole | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Nervous system (semeiology, syndromes) | 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 | Brain | Pathogens | Neurosciences | Cellular biology | Neurons | Neurological disorders | Muscular dystrophy | Index Medicus
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