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Cochrane Database of Systematic Reviews, ISSN 1469-493X, 06/2017, Volume 2017, Issue 6, p. CD003456
Journal Article
Human Genetics, ISSN 0340-6717, 11/2011, Volume 130, Issue 5, pp. 583 - 605
Dominant negative genetic disorders, in which a mutant allele of a gene causes disease in the presence of a second, normal copy, have been challenging since... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | PROLONGS SURVIVAL | SHORT INTERFERING RNA | ALZHEIMERS-DISEASE | IN-VIVO | GENETICS & HEREDITY | CHEMICAL-MODIFICATION | ALPHA-SYNUCLEIN | EXPRESSION PROFILES | BLOOD-BRAIN-BARRIER | HUNTINGTONS-DISEASE | MYOTONIC-DYSTROPHY | Parkinson Disease - therapy | Muscular Dystrophies - therapy | Humans | Anemia, Sickle Cell - drug therapy | Parkinson Disease - drug therapy | Spinocerebellar Ataxias - therapy | Genetic Diseases, Inborn - therapy | Molecular Targeted Therapy | Muscular Dystrophies - genetics | Amyotrophic Lateral Sclerosis - drug therapy | Huntington Disease - therapy | Neoplasms - therapy | Genes, Dominant | Neoplasms - genetics | RNA Interference | Spinocerebellar Ataxias - drug therapy | Huntington Disease - drug therapy | Spinocerebellar Ataxias - genetics | Amyotrophic Lateral Sclerosis - therapy | Amyotrophic Lateral Sclerosis - genetics | Alzheimer Disease - therapy | Muscular Dystrophies - drug therapy | Alzheimer Disease - drug therapy | Rats | Clinical Trials as Topic | Parkinson Disease - genetics | Neoplasms - drug therapy | Anemia, Sickle Cell - therapy | Point Mutation | Animals | Huntington Disease - genetics | Mice | Alzheimer Disease - genetics | Genetic Diseases, Inborn - drug therapy | Anemia, Sickle Cell - genetics | Genetic Therapy - methods | Enzymes | Gene mutations | Gene therapy | Catalytic RNA | Health aspects | Genes | Drugs | Parkinson's disease | Neurodegenerative diseases | Tumor cells | RNA-mediated interference | Amyotrophic lateral sclerosis | Antisense RNA | Drug delivery | Single-nucleotide polymorphism | Huntington's disease | Muscular dystrophy | Mutation | Ribozymes | Alzheimer's disease | Movement disorders | Cancer | Pharmaceuticals
Journal Article
Annals of Neurology, ISSN 0364-5134, 10/2014, Volume 76, Issue 4, pp. 489 - 508
Objective To investigate whether a histone deacetylase inhibitor (HDACi) would be effective in an in vitro model for the neurodegenerative disease Friedreich... 
PLURIPOTENT STEM-CELLS | THERAPEUTICS | TRIPLET-REPEAT EXPANSION | FRATAXIN | GENE | CONTRACTION | NICOTINAMIDE | TRANSCRIPTION | DIFFERENTIATION | HISTONE DEACETYLASE INHIBITORS | NEUROSCIENCES | CLINICAL NEUROLOGY | Leukocytes, Mononuclear - metabolism | Area Under Curve | Friedreich Ataxia - pathology | Humans | Middle Aged | Male | Friedreich Ataxia - genetics | Dose-Response Relationship, Drug | Young Adult | Cell Differentiation - genetics | Benzamides - therapeutic use | Pluripotent Stem Cells | Chromatin Immunoprecipitation | Adult | Female | Benzamides - pharmacology | Aminocaproates - therapeutic use | Neurons - drug effects | Membrane Potentials - drug effects | Friedreich Ataxia - drug therapy | Leukocytes, Mononuclear - drug effects | Cross-Sectional Studies | Double-Blind Method | Administration, Oral | Gene Expression Regulation - genetics | Aminocaproates - pharmacology | DNA Methylation - genetics | Membrane Potentials - physiology | Nerve Tissue Proteins - genetics | Gene Expression Regulation - drug effects | Nerve Tissue Proteins - metabolism | Cell Differentiation - drug effects | Adolescent | Trinucleotide Repeat Expansion - genetics | Iron-Binding Proteins - genetics | Histone Deacetylase Inhibitors - therapeutic use | DNA Methylation - drug effects | Cell Line, Transformed | Cohort Studies | Epigenetics | Ataxia | Chromatin | Gene expression
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 10/2015, Volume 373, Issue 18, pp. 1697 - 1708
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 07/2016, Volume 213, Issue 8, pp. 1429 - 1440
The analysis of individuals with telomere defects may shed light on the delicate interplay of factors controlling genome stability, premature aging, and... 
ZEBRAFISH EMBRYOS | MEDICINE, RESEARCH & EXPERIMENTAL | REPLICATION RESTART | COMPONENT 1 | HUMAN-CELLS | CTC1 MUTATIONS | END-PROTECTION | HUMAN CST | DUPLEX REPLICATION | IMMUNOLOGY | BONE-MARROW FAILURE | STRAND FILL-IN | Calcinosis - genetics | Central Nervous System Cysts - metabolism | Retinal Diseases - genetics | Leukoencephalopathies - genetics | Seizures - genetics | Humans | Brain Neoplasms - pathology | Seizures - drug therapy | Male | Retinal Diseases - metabolism | Seizures - metabolism | Brain Neoplasms - metabolism | Muscle Spasticity - drug therapy | Leukoencephalopathies - drug therapy | Telomere-Binding Proteins - genetics | Seizures - pathology | Ataxia - drug therapy | Retinal Diseases - pathology | Female | Telomere - metabolism | Ataxia - genetics | Calcinosis - metabolism | Ataxia - metabolism | Ataxia - pathology | Disease Models, Animal | Telomere - genetics | Thalidomide - adverse effects | Leukoencephalopathies - pathology | Calcinosis - drug therapy | Telomere-Binding Proteins - biosynthesis | Brain Neoplasms - genetics | Zebrafish | Leukoencephalopathies - metabolism | Muscle Spasticity - metabolism | Thalidomide - administration & dosage | Brain Neoplasms - drug therapy | Muscle Spasticity - pathology | Central Nervous System Cysts - pathology | Central Nervous System Cysts - genetics | Gene Expression Regulation - drug effects | Central Nervous System Cysts - drug therapy | Telomere - pathology | Animals | Mutation | Retinal Diseases - drug therapy | Calcinosis - pathology | Muscle Spasticity - genetics
Journal Article
Cochrane database of systematic reviews (Online), ISSN 1469-493X, 04/2004, Volume 2004, Issue 2, p. CD003456
Chronic idiopathic axonal polyneuropathy is an insidiously progressive sensory or sensorimotor polyneuropathy that affects elderly people. Although severe... 
Gait Ataxia - etiology | Axons | Leg - innervation | Gait Ataxia - drug therapy | Humans | Polyneuropathies - drug therapy | Aged | Chronic Disease | Gait Ataxia [drug therapy; etiology] | MEDICINE, GENERAL & INTERNAL | Polyneuropathies [drug therapy] | Leg [innervation]
Journal Article
The Lancet Oncology, ISSN 1470-2045, 12/2017, Volume 18, Issue 12, pp. 1637 - 1651
Journal Article
Lancet, The, ISSN 0140-6736, 2016, Volume 389, Issue 10076, pp. 1357 - 1366
Summary Multiple sclerosis is a major cause of neurological disability, which accrues predominantly during progressive forms of the disease. Although... 
Internal Medicine | MEDICINE, GENERAL & INTERNAL | BRAIN ATROPHY | ORAL FINGOLIMOD | OPTICAL COHERENCE TOMOGRAPHY | MAGNETIZATION-TRANSFER RATIO | MYELIN REPAIR | PHASE-III | DOUBLE-BLIND | SPINAL-CORD | PLACEBO-CONTROLLED TRIAL | CORTICAL PATHOLOGY | Disability Evaluation | Neuroprotective Agents - therapeutic use | Multiple Sclerosis, Chronic Progressive - classification | Humans | Anti-Inflammatory Agents - therapeutic use | Multiple Sclerosis, Chronic Progressive - pathology | Multiple Sclerosis, Chronic Progressive - diagnostic imaging | Multiple Sclerosis, Chronic Progressive - drug therapy | Development and progression | Drug approval | Multiple sclerosis | Cerebellum | Conduction | Central nervous system | Cognitive ability | Recovery of function | Mitochondrial DNA | Cognition | Glial stem cells | Incidence | Histopathology | Blood-brain barrier | Restoration | Neurodegeneration | Biocompatibility | Ataxia | Damage | Deoxyribonucleic acid--DNA | Gold | Neurodegenerative diseases | Long-term potentiation | Central nervous system diseases | Cortex (visual) | Sex ratio | Pathology | Neurology | Physical fitness | Myelination | Sodium | Stem cells | Neural stem cells | Rehabilitation | Mutation | Axon guidance | Drugs | Spinal cord | Correlation | Calcium | Arches | Transplantation | Iron | Activation | Regulatory approval | Accumulation | Visual perception | Disability | Demyelination | Lymphocytes | Modulation | Degeneration | Drug therapy | Lesions | Injuries | Age | Water pollution effects | Medical imaging | Myelin | Abundance | Inflammation | Axons | Lymphocytes B | Medical prognosis | Cells (biology) | Transport buildings, stations and terminals | Energy demand | Cytoplasm
Journal Article