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1
المؤلفون: Gonzalo Perez-Siles, Melina Ellis, Andrew Burgess, Megan H. Brewer, Steve Vucic, Ramesh K Narayanan, Garth A. Nicholson, Marina L. Kennerson, Brent Neumann, Carolyn Ly
المصدر: Human Molecular Genetics
مصطلحات موضوعية: AcademicSubjects/SCI01140, Pyruvate dehydrogenase kinase, Mutant, Biology, Neurotransmission, medicine.disease_cause, Synaptic Transmission, Adenosine Triphosphate, In vivo, Charcot-Marie-Tooth Disease, Genetics, medicine, Animals, Humans, Caenorhabditis elegans, Molecular Biology, Genetics (clinical), Mutation, Neurodegeneration, Wild type, Pyruvate Dehydrogenase Acetyl-Transferring Kinase, General Medicine, medicine.disease, Phenotype, Cell biology, General Article
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2Academic Journal
المؤلفون: Megan H Brewer, Rabia Chaudhry, Jessica Qi, Aditi Kidambi, Alexander P Drew, Manoj P Menezes, Monique M Ryan, Michelle A Farrar, David Mowat, Gopinath M Subramanian, Helen K Young, Stephan Zuchner, Stephen W Reddel, Garth A Nicholson, Marina L Kennerson
المصدر: PLoS Genetics, Vol 12, Iss 7, p e1006177 (2016)
وصف الملف: electronic resource
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3
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: 0301 basic medicine, inherited peripheral neuropathies, topological associated domains, Gene Dosage, Review Article, Biology, medicine.disease_cause, gene dysregulation, Structural variation, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Gene duplication, Genetics, medicine, Humans, Point Mutation, Molecular Biology, Gene, Genetics (clinical), Genomic organization, Mutation, Genome, Genetic heterogeneity, structural variation, Chromosome Mapping, High-Throughput Nucleotide Sequencing, Peripheral Nervous System Diseases, Genomics, Noncoding DNA, Chromatin, 3. Good health, 030104 developmental biology, Genomic Structural Variation, Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery
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4
المؤلفون: José F. Rodríguez-Molina, Noah Steinberg, Ki H. Ma, Anthony Antonellis, William D. Law, Elizabeth A. Fogarty, Megan H. Brewer, John Svaren
المصدر: Human Molecular Genetics. 25:3925-3936
مصطلحات موضوعية: 0301 basic medicine, Gene isoform, SOX10, Schwann cell, Protein tyrosine phosphatase, Biology, Mice, 03 medical and health sciences, Charcot-Marie-Tooth Disease, Genetics, medicine, Animals, Humans, Peripheral Nerves, Regulatory Elements, Transcriptional, Promoter Regions, Genetic, Molecular Biology, Gene, Transcription factor, Myelin Sheath, Genetics (clinical), Motor Neurons, Regulation of gene expression, SOXE Transcription Factors, Articles, General Medicine, Protein Tyrosine Phosphatases, Non-Receptor, Molecular biology, Rats, 030104 developmental biology, medicine.anatomical_structure, Gene Expression Regulation, nervous system, Cell culture, Mutation, Schwann Cells, HeLa Cells
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5
المؤلفون: Aditi Kidambi, Megan H. Brewer, Alexander P. Drew, Garth A. Nicholson, Shelisa Tey, Marina L. Kennerson, Carolyn Ly, Azlina Ahmad-Annuar, Danqing Zhu
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: inherited peripheral neuropathy, Genetics, BSCL2, Original Articles, Disease, Biology, Charcot-Marie-Tooth disease, BICD2, Phenotype, genetic diagnosis, Missense mutation, whole-exome sequencing, Genetic diagnosis, Molecular Biology, Gene, Genetics (clinical), Exome sequencing
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6
المؤلفون: Manoj Kanhangad, Helen Young, Robert L. Smith, Joshua Burns, Gopinath M. Subramanian, Kayla M.D. Cornett, Monique M. Ryan, Marina L. Kennerson, Manoj P. Menezes, Garth A. Nicholson, Megan H. Brewer, Stephan Züchner
المصدر: Neurology. 90(19)
مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Adolescent, medicine.medical_treatment, Neural Conduction, Nerve conduction velocity, Connexins, Cohort Studies, 03 medical and health sciences, Grip strength, Young Adult, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Hand strength, medicine, Humans, Genetic Testing, Child, Foot deformity, Genetic testing, Family Health, Rehabilitation, medicine.diagnostic_test, Hand Strength, business.industry, Australia, Infant, medicine.disease, 030104 developmental biology, Case-Control Studies, Child, Preschool, Cohort, Mutation, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Cohort study
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7
المؤلفون: Anthony N. Cutrupi, Marina L. Kennerson, Alexander P. Drew, Garth A. Nicholson, Megan H. Brewer
المصدر: Human genetics. 135(11)
مصطلحات موضوعية: 0301 basic medicine, Male, Genomic Structural Variation, Locus (genetics), Biology, Genome, Structural variation, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Gene Duplication, Gene duplication, Peripheral Nervous System, Genetics, Humans, Gene, Genetics (clinical), Motor Neurons, Genome, Human, Point mutation, Chromosome Mapping, High-Throughput Nucleotide Sequencing, Molecular biology, Pedigree, Mutagenesis, Insertional, 030104 developmental biology, Mutation, Human genome, Female, 030217 neurology & neurosurgery, Chromosomes, Human, Pair 7
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8
المؤلفون: John Svaren, Rajini Srinivasan, Sunduz Keles, Kira N. Charney, Guannan Sun, Courtney Krueger, Megan H. Brewer, Erin A. Jones, Anthony Antonellis
المصدر: Human Molecular Genetics. 21:1581-1591
مصطلحات موضوعية: Male, Early Growth Response Protein 2, Biology, Gene dosage, Cell Line, Rats, Sprague-Dawley, Mice, Myelin, Genes, Reporter, Consensus Sequence, Gene duplication, Genetics, medicine, Animals, Humans, Peripheral Nerves, education, Enhancer, Molecular Biology, Zebrafish, Genetics (clinical), education.field_of_study, Reporter gene, Base Sequence, SOXE Transcription Factors, Articles, General Medicine, Chromatin, Rats, Enhancer Elements, Genetic, medicine.anatomical_structure, Microtubule Proteins, Female, Chromatin immunoprecipitation, Myelin Proteins
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9
المؤلفون: Aditi Kidambi, Rabia Chaudhry, Marina L. Kennerson, Katherine D. Mathews, Megan H. Brewer, Garth A. Nicholson, Anthony Antonellis
المصدر: Musclenerve. 47(6)
مصطلحات موضوعية: Male, Physiology, BSCL2, Mutation, Missense, Locus (genetics), Biology, Gene mutation, Polymorphism, Single Nucleotide, DNA sequencing, Article, Cellular and Molecular Neuroscience, symbols.namesake, Muscle nerve, Charcot-Marie-Tooth Disease, Physiology (medical), GTP-Binding Protein gamma Subunits, Humans, Exome, Exome sequencing, Genetics, Sanger sequencing, Sequence Analysis, DNA, Pedigree, symbols, Female, Neurology (clinical)
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10
المؤلفون: Megan H. Brewer, Bartosz Kowalski, Keta McDowall, Rabia Chaudhry, Marina L. Kennerson, Garth A. Nicholson, Shannon Chu, Patsie Polly
المصدر: Neurogenetics. 11(2)
مصطلحات موضوعية: Genetics, Male, Australia, Chromosome Mapping, Locus (genetics), Biology, Molecular medicine, Human genetics, Cohort Studies, Cellular and Molecular Neuroscience, Charcot-Marie-Tooth Disease, Genes, X-Linked, Cohort, Humans, Female, Gene, Genetics (clinical), X chromosome, Cohort study
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11
المؤلفون: Marina L. Kennerson, Michael E. Shy, James Y. Garbern, Garth A. Nicholson, Megan H. Brewer
المصدر: Advances in Experimental Medicine and Biology ISBN: 9789048128129
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, business.industry, Distal spinal muscular atrophy, Sensory system, Locus (genetics), medicine.disease, Phenotype, Genotype, Sensory neuropathy, Medicine, business, Hereditary motor and sensory neuropathy, Neuroscience, Motor neuropathy
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12
المؤلفون: Peter De Jonghe, Megan H. Brewer, Marina L. Kennerson, Trent Warburton, Garth A. Nicholson, Eva Nelis, Patsie Polly, Vincent Timmerman
المصدر: Clinical chemistry
مصطلحات موضوعية: Genetics, Male, Mutation, education.field_of_study, Sequence analysis, Biochemistry (medical), Clinical Biochemistry, Gene mutation, Biology, Amplicon, medicine.disease_cause, High Resolution Melt, Connexins, Exon, Charcot-Marie-Tooth Disease, medicine, Connexin 32, Humans, Female, education, Gene
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