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المؤلفون: Liliane Kappeler, André Schaller, C. Nguyen-Thi Xuan-Huong, J.F. Benoist, F. Seibold, K. Madhavi Vadday, Heinrich Mattle, Sabina Gallati, Jean-Marc Burgunder, Caspar Brekenfeld, W.M.M. Schüpbach
المصدر: Schüpbach, W; Vadday, K; Schaller, A; Brekenfeld, C; Kappeler, L; Benoist, JF; Xuan-Huong, C; Burgunder, J; Seibold, F; Gallati, S; Mattle, H (2007). Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features. Journal of neurology, 254(2), pp. 146-53. Heidelberg: Steinkopff-Verlag; www.steinkopff.springer.de 10.1007/s00415-006-0255-3 <http://dx.doi.org/10.1007/s00415-006-0255-3Test>
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, Magnetic Resonance Spectroscopy, Neural Conduction, Biology, Ophthalmoparesis, Leukoencephalopathy, Mitochondrial myopathy, Mitochondrial Encephalomyopathies, Internal medicine, Diseases in Twins, medicine, Humans, Thymidine phosphorylase, Radionuclide Imaging, Myopathy, Gastrointestinal dysmotility, Thymidine Phosphorylase, medicine.diagnostic_test, Siblings, Magnetic resonance imaging, Exons, Sequence Analysis, DNA, medicine.disease, Magnetic Resonance Imaging, Corpus Striatum, Substantia Nigra, Endocrinology, Neurology, Mutation, Neurology (clinical), medicine.symptom, Polyneuropathy, Thymidine
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::621d3faf22f8d20aee3d80c953f72997Test
http://doc.rero.ch/record/318521/files/415_2006_Article_255.pdfTest -
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المؤلفون: Lie Chen, Franziska Joncourt, D. Lang, Sabina Gallati, Jean-Marc Burgunder, X.W. Ran
المصدر: European neurology. 49(4)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, China, DNA Mutational Analysis, Hypokalemic Periodic Paralysis, Familial periodic paralysis, Bioinformatics, Polymerase Chain Reaction, Genetic determinism, Hypokalemic periodic paralysis, Internal medicine, CACNA1S gene, medicine, Humans, Polymorphism, Single-Stranded Conformational, Polymorphism, Genetic, business.industry, Incidence, Thyrotoxic periodic paralysis, Periodic paralysis, Middle Aged, medicine.disease, Molecular analysis, Endocrinology, Thyrotoxicosis, Neurology, Chromosomes, Human, Pair 1, Mutation, Female, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91ebc6837362ee450f644b2dde29222cTest
https://pubmed.ncbi.nlm.nih.gov/12736539Test