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1دورية أكاديمية
المؤلفون: Mari Mori, Jennifer Goldstein, Sarah P. Young, Edward H. Bossen, John Shoffner, Dwight D. Koeberl
المصدر: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 39-41 (2015)
مصطلحات موضوعية: Mitochondrial myopathy, Cytochrome b, Complex III deficiency, Ketotic hypoglycemia, Carnitine deficiency, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Richard S. Finkel, Basil T. Darras, Jerry R. Mendell, John W. Day, Nancy L. Kuntz, Anne M. Connolly, Craig M. Zaidman, Thomas O. Crawford, Russell J. Butterfield, Perry B. Shieh, Gihan Tennekoon, John F. Brandsema, Susan T. Iannaccone, John Shoffner, Sarah Kavanagh, Thomas A. Macek, Sitra Tauscher-Wisniewski
المصدر: Journal of Neuromuscular Diseases. 10:389-404
مصطلحات موضوعية: Neurology, Neurology (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7d5eb54d24288fbd5c2fde8424effb87
https://doi.org/10.3233/jnd-221560 -
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المؤلفون: Amel, Karaa, Shamima, Rahman, Anne, Lombès, Patrick, Yu-Wai-Man, Muniza K, Sheikh, Sherita, Alai-Hansen, Bruce H, Cohen, David, Dimmock, Lisa, Emrick, Marni J, Falk, Shana, McCormack, David, Mirsky, Tony, Moore, Sumit, Parikh, John, Shoffner, Tanja, Taivassalo, Mark, Tarnopolsky, Ingrid, Tein, Joanne C, Odenkirchen, Amy, Goldstein
المصدر: J Inherit Metab Dis
مصطلحات موضوعية: Stroke, Biomedical Research, Common Data Elements, Mitochondrial Diseases, Research Design, Data Collection, Genetics, Humans, National Institute of Neurological Disorders and Stroke (U.S.), Nervous System Diseases, Genetics (clinical), United States, Article
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المؤلفون: Johan L.K. Van Hove, John Shoffner, Stacey Hume, Marisa W. Friederich, David S. Sinasac, Aneal Khan, Jane Shearer, Iveta Sosova, Christopher Newell
المصدر: Neurology: Genetics
مصطلحات موضوعية: Gel electrophoresis, 0303 health sciences, Mitochondrial DNA, Muscle biopsy, medicine.diagnostic_test, Mitochondrial disease, Skeletal muscle, Biology, medicine.disease, Molecular biology, Article, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine.anatomical_structure, chemistry, medicine, Neurology (clinical), Polyacrylamide gel electrophoresis, Gene, 030217 neurology & neurosurgery, Genetics (clinical), DNA, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a34d673168291de575720c060e1ebfba
https://doi.org/10.1212/nxg.0000000000000336 -
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المؤلفون: Aldeboran N. Rodriguez, Cristan Farmer, John Shoffner, Precilla D'Souza, Susan E. Swedo, Audrey Thurm, Laura Soskey, William A. Langley, Sarah J. Spence, Keith Hyland, Barbara Trommer
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, Lumbar puncture, business.industry, Follow up studies, 5-Methyltetrahydrofolate, Cerebral folate deficiency, Natural variation, medicine.disease, Article, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Cohort, Severity of illness, medicine, Autism, Neurology (clinical), business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f6a2d396d02a0c00ec4292d37469809
https://europepmc.org/articles/PMC4909560/ -
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المؤلفون: Simon Heales, Keith Hyland, John Shoffner
المصدر: Journal of Inherited Metabolic Disease. 33:563-570
مصطلحات موضوعية: medicine.medical_specialty, Leucovorin, Administration, Oral, Rett syndrome, Folic Acid Deficiency, Gastroenterology, Cerebrospinal fluid, Risk Factors, Internal medicine, Genetics, medicine, Humans, Folate Receptor 1, Genetic Predisposition to Disease, Tetrahydrofolates, Genetics (clinical), Autoantibodies, Brain Diseases, Psychomotor retardation, Cerebellar ataxia, business.industry, medicine.disease, Treatment Outcome, Endocrinology, Dyskinesia, Folate receptor, Dietary Supplements, Mutation, Sensorineural hearing loss, Folate receptor 1, medicine.symptom, business, Folic Acid Transporters
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المؤلفون: John Shoffner
المصدر: Molecular Genetics and Metabolism Reports
مصطلحات موضوعية: Oncology, medicine.medical_specialty, Endocrinology, Text mining, Arginine, business.industry, Internal medicine, Genetics, Retrospective analysis, Medicine, business, Molecular Biology, Letter to the Editor
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المؤلفون: Carsten G. Bönnemann, Alexandra B. Columbus, Diane M. Dunn, A. Reghan Foley, Robert B. Weiss, Yaqun Zou, John Shoffner, Ying Hu
المصدر: Neuromuscular Disorders. 19:813-817
مصطلحات موضوعية: Adult, Male, Heterozygote, Ullrich congenital muscular dystrophy, Molecular Sequence Data, Mutation, Missense, Genes, Recessive, Collagen Type VI, Biology, Compound heterozygosity, Article, Exon, Muscular Diseases, Collagen VI, medicine, Humans, Missense mutation, Amino Acid Sequence, Allele, Genetics (clinical), Sequence Deletion, Genetics, Sequence Homology, Amino Acid, Bethlem myopathy, Dermis, Exons, Fibroblasts, medicine.disease, Exon skipping, Pedigree, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical)
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المؤلفون: John Shoffner, Galen N. Breningstall, Richard J. Patterson
المصدر: Seminars in Pediatric Neurology. 15:212-215
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, NDUFV1, Leukoencephalopathy, medicine, Humans, Spasticity, Electron Transport Complex I, medicine.diagnostic_test, business.industry, Siblings, Leukoencephalopathy, Progressive Multifocal, Infant, NADH Dehydrogenase, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, Diffuse leukoencephalopathy, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Female, Neurology (clinical), medicine.symptom, business, Developmental regression
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