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1. Full Text Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
by Murphy, Sinead M and Laura, Matilde and Fawcett, Katherine and Pandraud, Amelie and Liu, Yo-Tsen and Davidson, Gabrielle L and Rossor, Alexander M and Polke, James M and Castleman, Victoria and Manji, Hadi and Lunn, Michael P T and Bull, Karen and Ramdharry, Gita and Davis, Mary and Blake, Julian C and Houlden, Henry and Reilly, Mary M
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 07/2012, Volume 83, Issue 7, pp. 706 - 710
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Gene Frequency - genetics | Genetic Predisposition to Disease - genetics | Genetic Testing - standards | Humans | Male | Mutation - genetics | Genetic Testing - methods | Charcot-Marie-Tooth Disease - genetics | Charcot-Marie-Tooth Disease - classification | Female | Charcot-Marie-Tooth Disease - diagnosis | Cohort Studies | Practice Guidelines as Topic | Tooth diseases | Care and treatment | Usage | Diagnosis | Genetic screening | Genotype & phenotype | Algorithms | Disease | Laboratories | Mutation | Neurosurgery | Family medical history | Patients | Deoxyribonucleic acid--DNA | Index Medicus
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2. Full Text Role of axonal transport in neurodegenerative diseases
by De Vos, Kurt J and Grierson, Andrew J and Ackerley, Steven and Miller, Christopher C. J
Annual review of neuroscience, ISSN 0147-006X, 2008, Volume 31, Issue 1, pp. 151 - 173
Amyotrophic lateral sclerosis | Parkinson's disease | Huntington's disease | Alzheimer's disease | Charcot-Marie-tooth disease | Motor neuron disease | Neurology | Organic mental disorders. Neuropsychology | Psychology. Psychoanalysis. Psychiatry | Adult and adolescent clinical studies | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Psychopathology. Psychiatry | Biological and medical sciences | Medical sciences | 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 | Index Medicus
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3. Full Text CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis
by Fridman, V and Bundy, B and Reilly, M M and Pareyson, D and Bacon, C and Burns, J and Day, J and Feely, S and Finkel, R S and Grider, T and Kirk, C A and Herrmann, D N and Laurá, M and Li, J and Lloyd, T and Sumner, C J and Muntoni, F and Piscosquito, G and Ramchandren, S and Shy, R and Siskind, C E and Yum, S W and Moroni, I and Pagliano, E and Zuchner, S and Scherer, S S and Shy, M E and Inherited Neuropathies Consortium
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 08/2015, Volume 86, Issue 8, pp. 873 - 878
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | Cross-Sectional Studies | Humans | Connexins - genetics | Cost of Illness | Male | Mitochondrial Proteins - genetics | Charcot-Marie-Tooth Disease - pathology | Mutation - genetics | Myelin Proteins - genetics | Charcot-Marie-Tooth Disease - genetics | Nuclear Proteins | Proteins - genetics | Adaptor Proteins, Signal Transducing | Charcot-Marie-Tooth Disease - classification | GTP Phosphohydrolases - genetics | Myelin P0 Protein - genetics | Female | Charcot-Marie-Tooth Disease - physiopathology | Cell Cycle Proteins | Gene mutations | Charcot-Marie-Tooth disease | Genetic aspects | Research | Patients | Health aspects | Risk factors | Studies | Consortia | Disease | Laboratories | Mutation | Family medical history | Peripheral neuropathy | Index Medicus | NEUROPATHY | Neurogenetics | GENETICS | 1506
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4. Full Text Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A
by Fledrich, Robert and Mannil, Manoj and Leha, Andreas and Ehbrecht, Caroline and Solari, Alessandra and Pelayo-Negro, Ana L and Berciano, José and Schlotter-Weigel, Beate and Schnizer, Tuuli J and Prukop, Thomas and Garcia-Angarita, Natalia and Czesnik, Dirk and Haberlová, Jana and Mazanec, Radim and Paulus, Walter and Beissbarth, Tim and Walter, Maggie C and TRIAAL, CMT and Hogrel, Jean-Yves and Dubourg, Odile and Schenone, Angelo and Baets, Jonathan and De Jonghe, Peter and Shy, Michael E and Horvath, Rita and Pareyson, Davide and Seeman, Pavel and Young, Peter and Sereda, Michael W and CMT-TRIAAL
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 11/2017, Volume 88, Issue 11, pp. 941 - 952
disease progression | biomarker | Charcot Marie Tooth disease 1A | disease severity | skin biopsy | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | Prognosis | Humans | Middle Aged | Pyrophosphatases - genetics | Male | Neuregulin-1 - genetics | Charcot-Marie-Tooth Disease - genetics | Glutathione Transferase - genetics | Cathepsin A - genetics | Adult | Female | Charcot-Marie-Tooth Disease - therapy | Real-Time Polymerase Chain Reaction | Skin - pathology | PPAR gamma - genetics | Glycoproteins - genetics | RNA, Messenger - genetics | Treatment Outcome | Phosphoric Diester Hydrolases - genetics | Disease Progression | Nuclear Proteins | Biopsy | Genetic Markers - genetics | Aged | Transcription, Genetic - genetics | Charcot-Marie-Tooth Disease - blood | Disease | Rodents | Clinical trials | Biomarkers | Skin | Gene expression | Patients | Index Medicus
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5. Full Text Clinical implications of genetic advances in charcot-marie-tooth disease
by Rossor, Alexander M and Polke, James M and Houlden, Henry and Reilly, Mary M
Nature reviews. Neurology, ISSN 1759-4758, 10/2013, Volume 9, Issue 10, pp. 562 - 571
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | High-Throughput Nucleotide Sequencing - methods | Sequence Analysis, DNA - methods | Humans | Charcot-Marie-Tooth Disease - diagnosis | Charcot-Marie-Tooth Disease - genetics | Phenotype | Charcot-Marie-Tooth disease | Diagnosis | Research | Nucleotide sequencing | Methods | DNA sequencing | Index Medicus
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6. Full Text Diagnosis, natural history, and management of Charcot–Marie–Tooth disease
by Pareyson, Davide, MD and Marchesi, Chiara, MD
Lancet neurology, ISSN 1474-4422, 2009, Volume 8, Issue 7, pp. 654 - 667
Neurology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Genetic Predisposition to Disease | Wallerian Degeneration - pathology | Neural Conduction - genetics | Humans | Wallerian Degeneration - physiopathology | Mutation - genetics | Nerve Tissue Proteins - genetics | Charcot-Marie-Tooth Disease - genetics | Animals | Inheritance Patterns - genetics | Charcot-Marie-Tooth Disease - therapy | Drug Evaluation, Preclinical | Charcot-Marie-Tooth Disease - diagnosis | Disease Models, Animal | Wallerian Degeneration - genetics | Antagonists | Diagnosis | Progesterone | Charcot-Marie-Tooth disease | Analysis | Organic acids | Index Medicus | Drugs | Animal models | Ascorbic acid | Clinical trials | Heredity | Neuropathy | Drug development | Neurotrophic factors | neuromuscular system | DNA | Curcumin | Rehabilitation
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7. Full Text Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan
by Yoshimura, Akiko and Yuan, Jun-Hui and Hashiguchi, Akihiro and Ando, Masahiro and Higuchi, Yujiro and Nakamura, Tomonori and Okamoto, Yuji and Nakagawa, Masanori and Takashima, Hiroshi
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 02/2019, Volume 90, Issue 2, pp. 195 - 202
molecular epidemiology | charcot-marie-tooth disease | next generation sequencing | gene panel | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | Genetic Profile | Humans | Middle Aged | Asian Continental Ancestry Group - genetics | Child, Preschool | Infant | Male | Mitochondrial Proteins - genetics | Charcot-Marie-Tooth Disease - genetics | HSP27 Heat-Shock Proteins - genetics | Young Adult | Neurofilament Proteins - genetics | Adult | Female | Charcot-Marie-Tooth Disease - epidemiology | Child | Infant, Newborn | Japan | Connexins - genetics | Myelin Proteins - genetics | Nerve Tissue Proteins - genetics | GTP Phosphohydrolases - genetics | Adolescent | Age of Onset | Myelin P0 Protein - genetics | Aged | Charcot-Marie-Tooth Disease - diagnosis | Consortia | Databases | Laboratories | Genomics | Genes | Genomes | Mutation | Peripheral neuropathy | Index Medicus | Neurogenetics | 1506
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8. Full Text Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease
by Weedon, Michael N and Hastings, Robert and Caswell, Richard and Xie, Weijia and Paszkiewicz, Konrad and Antoniadi, Thalia and Williams, Maggie and King, Cath and Greenhalgh, Lynn and Newbury-Ecob, Ruth and Ellard, Sian
American journal of human genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 308 - 312
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Neurology | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Humans | Cytoplasmic Dyneins - genetics | Child, Preschool | Exons - genetics | Male | Mutation - genetics | Charcot-Marie-Tooth Disease - genetics | Young Adult | Animals | DNA Mutational Analysis | Pedigree | Axons - pathology | Adult | Female | Mice | Genes, Dominant - genetics | Usage | Charcot-Marie-Tooth disease | Dynein | Causes of | Genetic aspects | Meiosis | Research | Nucleotide sequencing | Structure | Proteins | Mutation | Neurons | Genes | Neurological disorders | Cytoplasm | Index Medicus | Animal models | Neurodegeneration | Muscles | Genomes | Axonal transport | Age | Report
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9. Full Text Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4
by Nicholson, Garth and Lenk, Guy M and Reddel, Stephen W and Grant, Adrienne E and Towne, Charles F and Ferguson, Cole J and Simpson, Ericka and Scheuerle, Angela and Yasick, Michelle and Hoffman, Stuart and Blouin, Randall and Brandt, Carla and Coppola, Giovanni and Biesecker, Leslie G and Batish, Sat D and Meisler, Miriam H
Brain (London, England : 1878), ISSN 0006-8950, 7/2011, Volume 134, Issue 7, pp. 1959 - 1971
molecular genetics | demyelinating disease | neurodegenerative disorders | Charcot-Marie-Tooth disease | clinical characteristics | Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction | Neurology | Biological and medical sciences | Medical sciences | Nervous system (semeiology, syndromes) | Foot Deformities - etiology | Glutamic Acid - genetics | Humans | Middle Aged | Child, Preschool | Family Health | Male | Muscle Weakness - genetics | Charcot-Marie-Tooth Disease - genetics | Sural Nerve - ultrastructure | Sural Nerve - pathology | Charcot-Marie-Tooth Disease - classification | Adult | Female | Child | Muscle Weakness - etiology | Charcot-Marie-Tooth Disease - complications | Neural Conduction - genetics | Flavoproteins - genetics | Foot Deformities - genetics | Models, Molecular | Exons - genetics | Genotype | Mutation - genetics | Phosphoric Monoester Hydrolases | Lysine - genetics | Phenotype | Australia | Charcot-Marie-Tooth Disease - diagnosis | Index Medicus | Abridged Index Medicus | Charcot–Marie–Tooth disease | Original
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10. Full Text Charcot‐marie‐tooth disease subtypes and genetic testing strategies
by Saporta, Anita S.D and Sottile, Stephanie L and Miller, Lindsey J and Feely, Shawna M.E and Siskind, Carly E and Shy, Michael E
Annals of neurology, ISSN 0364-5134, 01/2011, Volume 69, Issue 1, pp. 22 - 33
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Action Potentials - genetics | Neural Conduction - genetics | Genetic Testing - statistics & numerical data | Humans | Infant | Male | Neural Conduction - physiology | Mutation - genetics | Genetic Testing - methods | Ulnar Nerve - physiology | Charcot-Marie-Tooth Disease - genetics | Walking - physiology | Mutation - physiology | Phenotype | Pedigree | Age of Onset | Action Potentials - radiation effects | Adult | Female | Child Development - physiology | Charcot-Marie-Tooth Disease - diagnosis | Medical research | Genetic testing | Mutation | Index Medicus
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