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Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 08/2015, Volume 86, Issue 8, pp. 873 - 878
Journal Article
The New England journal of medicine, ISSN 1533-4406, 2011, Volume 365, Issue 25, pp. 2377 - 2388
...–Tooth disease refers to a heterogeneous group of inherited chronic peripheral motor and sensory neuropathies... 
GLOMERULOSCLEROSIS | MEDICINE, GENERAL & INTERNAL | MYELIN | PROTEIN | NEUROPATHY | EPITHELIAL-CELLS | GENE | RHO | MEDIATED TRANSPORT | FORMIN | NEPHROPATHY | Humans | Middle Aged | Proteolipids - metabolism | Actins - metabolism | Male | Charcot-Marie-Tooth Disease - genetics | Young Adult | Kidney - metabolism | Glomerulosclerosis, Focal Segmental - etiology | Myelin and Lymphocyte-Associated Proteolipid Proteins | Adult | Female | Membrane Transport Proteins - metabolism | Microfilament Proteins - metabolism | Child | Microfilament Proteins - genetics | Charcot-Marie-Tooth Disease - complications | Schwann Cells - metabolism | Phenotype | Animals | Adolescent | Age of Onset | Heterozygote | Mice | Mutation | Myelin Proteins - metabolism | Glomerulonephritis | Gene mutations | Charcot-Marie-Tooth disease | Causes of | Genetic aspects | Research | Myelin proteins | Cdc42 protein | Disease | Exons | Genes | Amino acids | Nervous system | Neuropathy | Guanine nucleotide-binding protein | Proteins | Myelin P0 protein | Peripheral myelin protein 22 | Localization | Deoxyribonucleic acid--DNA | Kidneys | Schwann cells | Polymerization | Guanosine triphosphatases | Myelination | Genotyping | Biopsy | Glomerulus | Cytoskeleton | Genetic testing | Cytoplasm | Schwann Cells | Genomics | Kidney | Charcot-Marie-Tooth Disease | Life Sciences | Proteolipids | Biochemistry, Molecular Biology | Actins | Microfilament Proteins | Membrane Transport Proteins | Myelin Proteins | Glomerulosclerosis, Focal Segmental
Journal Article
Annual review of neuroscience, ISSN 1545-4126, 2008, Volume 31, Issue 1, pp. 151 - 173
Many major human neurodegenerative diseases, including Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis (ALS... 
Amyotrophic lateral sclerosis | Parkinson's disease | Huntington's disease | Alzheimer's disease | Charcot-Marie-tooth disease | Motor neuron disease | motor neuron disease | MARIE-TOOTH-DISEASE | ACTIVATED PROTEIN-KINASE | HEREDITARY SPASTIC PARAPLEGIA | GLYCOGEN-SYNTHASE KINASE-3 | AMYOTROPHIC-LATERAL-SCLEROSIS | MOTOR-NEURON DISEASE | MUTANT SUPEROXIDE-DISMUTASE | amyotrophic lateral sclerosis | HUNTINGTIN-ASSOCIATED PROTEIN-1 | NEUROSCIENCES | Charcot-Marie-Tooth disease | NUCLEOTIDE EXCHANGE FACTOR | CYCLIN-DEPENDENT KINASE-5 | Axonal Transport - genetics | Central Nervous System - metabolism | Humans | Central Nervous System - pathology | Charcot-Marie-Tooth Disease - genetics | Motor Neuron Disease - metabolism | Motor Neuron Disease - genetics | Parkinson Disease - metabolism | Motor Neuron Disease - physiopathology | Charcot-Marie-Tooth Disease - metabolism | Huntington Disease - physiopathology | Alzheimer Disease - physiopathology | Axons - metabolism | Neurodegenerative Diseases - genetics | Neurodegenerative Diseases - metabolism | Parkinson Disease - genetics | Parkinson Disease - physiopathology | Huntington Disease - metabolism | Animals | Neurodegenerative Diseases - physiopathology | Axons - pathology | Alzheimer Disease - metabolism | Huntington Disease - genetics | Central Nervous System - physiopathology | Charcot-Marie-Tooth Disease - physiopathology | Alzheimer Disease - genetics | Nervous system | Degeneration | Axonal transport | Analysis
Journal Article
PloS one, ISSN 1932-6203, 2019, Volume 14, Issue 1, p. e0209752
The most common type of Charcot-Marie-Tooth disease is caused by a duplication of PMP22 leading to dysmyelination, axonal loss and progressive muscle weakness ( CMT1A... 
VARIABILITY | AXONAL LOSS | GENE | MYELINATION | SUBTYPES | MULTIDISCIPLINARY SCIENCES | NEUROPATHIES | EXPRESSION | Male | Phosphatidylinositol 3-Kinases - metabolism | Myelin Proteins - drug effects | Charcot-Marie-Tooth Disease - genetics | Naltrexone - pharmacology | Demyelinating Diseases - pathology | Proto-Oncogene Proteins c-akt - metabolism | Charcot-Marie-Tooth Disease - metabolism | Disease Models, Animal | Schwann Cells - drug effects | Baclofen - pharmacology | Rats, Transgenic | Axons - metabolism | Rats | Neural Conduction | MAP Kinase Kinase Kinases - metabolism | Charcot-Marie-Tooth Disease - drug therapy | Myelin Proteins - genetics | Rats, Sprague-Dawley | Proof of Concept Study | Animals | MAP Kinase Signaling System - drug effects | Signal Transduction - drug effects | Muscle Weakness - metabolism | Myelin Proteins - metabolism | Drug Combinations | Sorbitol - pharmacology | Usage | Research | Naltrexone | Charcot-Marie-Tooth disease | Sorbitol | Therapy | Genes | Motors | AKT protein | mRNA | Kinases | Peripheral neuropathy | Proteins | Signal transduction | Transgenic animals | Rodents | Baclofen | Children | Peripheral myelin protein 22 | Drug dosages | Motor neurons | Phenotypes | Schwann cells | Muscles | Extracellular signal-regulated kinase | Patients | 1-Phosphatidylinositol 3-kinase | Medicine | Axons
Journal Article
Journal Article
Free radical biology & medicine, ISSN 0891-5849, 2013, Volume 63, pp. 1 - 29
Neurodegenerative disorders are debilitating diseases of the brain, characterized by behavioral, motor and cognitive impairments... 
Charcot-Marie-Tooth disease and | Sirtuins | Free radicals | Mitochondrial dysfunction | Parkinson's disease | Neurodegenerative diseases | Amyotrophic lateral sclerosis | Co-Q10 | PGC-1α | Creatine | Huntington's disease | Friedreich's ataxia | Alzheimer's disease | KETOGLUTARATE DEHYDROGENASE COMPLEX | PGC-1 alpha | BIOCHEMISTRY & MOLECULAR BIOLOGY | NEURONAL CELL-DEATH | AMYOTROPHIC-LATERAL-SCLEROSIS | AMYLOID PRECURSOR PROTEIN | WATER-SOLUBLE FORMULATION | Charcot-Marie-Tooth disease and Friedreich's ataxia | CYTOCHROME-C-OXIDASE | TARGETED ANTIOXIDANT MITOQ | PERMEABLE PEPTIDE ANTIOXIDANTS | ENDOCRINOLOGY & METABOLISM | TRANSGENIC MOUSE MODEL | COMPLEX-I DEFICIENCY | Mitochondrial Diseases - pathology | Friedreich Ataxia - metabolism | Parkinson Disease - pathology | Free Radicals - toxicity | Friedreich Ataxia - pathology | Humans | Huntington Disease - pathology | Nerve Degeneration - physiopathology | Mitochondria - metabolism | Mitochondria - pathology | Charcot-Marie-Tooth Disease - pathology | Huntington Disease - metabolism | Nerve Degeneration - metabolism | Alzheimer Disease - pathology | Brain - metabolism | Amyotrophic Lateral Sclerosis - pathology | Alzheimer Disease - metabolism | Amyotrophic Lateral Sclerosis - metabolism | Brain - pathology | Parkinson Disease - metabolism | Charcot-Marie-Tooth Disease - metabolism | Proteins | Nervous system diseases | Mitochondrial DNA | Gene mutations | Analysis | Index Medicus
Journal Article
Journal Article
Journal of Neurology, ISSN 0340-5354, 2/2016, Volume 263, Issue 2, pp. 361 - 369
Journal Article
Brain (London, England : 1878), ISSN 0006-8950, 2011, Volume 134, Issue 6, pp. 1839 - 1852
Journal Article