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1
المؤلفون: Robert W. Burgess, Maximiliano Presa, Hannah Wilpan, Cathleen M. Lutz, Crystal Davis, Laurent P. Bogdanik, Guy M. Lenk, Steven J. Gray, Randy Walls, Rachel M. Bailey, Jenn Cook, Tara Murphy
المصدر: J Clin Invest
مصطلحات موضوعية: Male, 0301 basic medicine, Genetic enhancement, Longevity, Disease, Virus, Mice, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Transduction, Genetic, Lysosome, Charcot-Marie-Tooth disease type 4J, medicine, Animals, Allele, Mice, Knockout, Flavoproteins, business.industry, General Medicine, Dependovirus, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Vacuolization, 030220 oncology & carcinogenesis, Peripheral nervous system, Immunology, Commentary, Female, Phosphoinositide Phosphatases, business
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2
المؤلفون: John Svaren
المصدر: J Clin Invest
مصطلحات موضوعية: 0301 basic medicine, Genetic enhancement, Disease, Bioinformatics, medicine.disease_cause, Virus, Mice, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth disease type 4J, medicine, Animals, Gene, Adeno-associated virus, Flavoproteins, business.industry, Genetic Therapy, General Medicine, Spinal muscular atrophy, Dependovirus, medicine.disease, 030104 developmental biology, Peripheral neuropathy, 030220 oncology & carcinogenesis, Mutation, Phosphoinositide Phosphatases, business, Research Article
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3
المؤلفون: Tamoghna Biswas, Biman Kanti Ray, Jasodhara Chaudhuri, Atanu Biswas, Gautam Ganguly, Atanu Kumar Dutta
المصدر: The International journal of neuroscience. 132(8)
مصطلحات موضوعية: 0301 basic medicine, Axonal neuropathy, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Disease, Quadriplegia, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth disease type 4J, medicine, Humans, Global developmental delay, Flavoproteins, business.industry, General Neuroscience, Siblings, General Medicine, medicine.disease, Phosphoric Monoester Hydrolases, nervous system diseases, 030104 developmental biology, medicine.anatomical_structure, Peripheral nervous system, Mutation, Demyelinating neuropathy, Spastic quadriplegia, business, 030217 neurology & neurosurgery
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4
المؤلفون: Carly E. Siskind, James P. Orengo, John W. Day, Pravin Khemani, Jun Li
المصدر: Annals of Clinical and Translational Neurology
مصطلحات موضوعية: 0301 basic medicine, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Central nervous system, Brief Communication, medicine.disease_cause, 03 medical and health sciences, Exon, Tooth disease, 0302 clinical medicine, Charcot-Marie-Tooth disease type 4J, medicine, Genetic testing, Mutation, medicine.diagnostic_test, business.industry, General Neuroscience, Parkinsonism, medicine.disease, nervous system diseases, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, Neurology (clinical), Brief Communications, business, 030217 neurology & neurosurgery
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5
المؤلفون: Bo Hu, Jun Li, Diego Sbrissa, Assia Shisheva
المصدر: Molecular neurobiology. 56(12)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, Phosphatase, Neuroscience (miscellaneous), Compound heterozygosity, Phosphatidylinositols, Models, Biological, 03 medical and health sciences, Cellular and Molecular Neuroscience, chemistry.chemical_compound, PIKFYVE, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Internal medicine, Charcot-Marie-Tooth disease type 4J, medicine, Humans, Inositol, Age of Onset, Child, Flavoproteins, Kinase, business.industry, Fibroblasts, Middle Aged, medicine.disease, Phosphoric Monoester Hydrolases, 030104 developmental biology, Endocrinology, Neurology, chemistry, Vacuolization, Vacuoles, Female, business, Polyneuropathy, 030217 neurology & neurosurgery
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6
المؤلفون: Crystal Davis, Rachel M. Bailey, Jennifer S. Cook, Steven J. Gray, Maxmiliano Presa, Rob Burgess, Tara Murphy, Cathleen M. Lutz
المصدر: Molecular Genetics and Metabolism. 126:S96-S97
مصطلحات موضوعية: Nervous system, business.industry, Endocrinology, Diabetes and Metabolism, Genetic enhancement, Central nervous system, Motor nerve, Disease, Bioinformatics, Spinal cord, Biochemistry, Endocrinology, medicine.anatomical_structure, Charcot-Marie-Tooth disease type 4J, Genetics, Medicine, Adverse effect, business, Molecular Biology
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7
المؤلفون: Henry Houlden, Zane Jaunmuktane, Julian Blake, Sebastian Brandner, Manoj P. Menezes, E. Cottenie, Alexander M. Rossor, Mary M. Reilly, David Dick, Janice R. Anderson, Jasper M. Morrow, Tarek A. Yousry
المصدر: Neuromuscular disorders : NMD. 23(5)
مصطلحات موضوعية: Adult, Male, Weakness, Pathology, medicine.medical_specialty, Chronic denervation, Chronic inflammatory demyelinating polyneuropathy, Disease, Compound heterozygosity, Diagnosis, Differential, Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth disease type 4J, Genotype, medicine, Humans, Genetic Predisposition to Disease, Genetics (clinical), business.industry, Polyradiculoneuropathy, medicine.disease, Axons, Neurology, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Pediatrics, Perinatology and Child Health, Mutation, Neurology (clinical), medicine.symptom, business