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

المؤلفون: Benjamin K.C. Ong, Raymond C.S. Seet, Roland Baur, Chew Soh Eng, Shang Huifang, Erle C.H. Lim, Walter Hunziker, Pascal Béguin, Erwin Sigel, Jean-Marc Burgunder

المصدر: Neuromuscular disorders : NMD. 18(8)

مصطلحات موضوعية: musculoskeletal diseases, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, China, DNA, Complementary, Adolescent, Xenopus, Pain, Biology, Compound heterozygosity, medicine.disease_cause, Myotonia, Variable features, Chloride Channels, Internal medicine, medicine, Animals, Humans, Muscle, Skeletal, Exercise, Genetics (clinical), Genetics, Neurologic Examination, CLCN1, Mutation, Myotonia congenita, Electromyography, Reverse Transcriptase Polymerase Chain Reaction, medicine.disease, biology.organism_classification, Electrophysiology, Endocrinology, Neurology, Pediatrics, Perinatology and Child Health, Chloride channel, biology.protein, Oocytes, Female, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0c2fdf4dfca35d7248e8e99f8ec0c33Test
https://pubmed.ncbi.nlm.nih.gov/18579381Test

المؤلفون: Huifang Shang, Dong Zhou, Qin Chen, Jean-Marc Burgunder, Xiao-Feng Jiang

المصدر: Movement disorders : official journal of the Movement Disorder Society. 21(12)

مصطلحات موضوعية: medicine.medical_specialty, DNA Mutational Analysis, Gene mutation, Diabetes Complications, Exon, Diabetes mellitus, Internal medicine, medicine, Serine, Humans, Aceruloplasminemia, Movement Disorders, biology, Cognitive disorder, Homozygote, Tryptophan, Ceruloplasmin, Exons, Middle Aged, medicine.disease, Phenotype, Magnetic Resonance Imaging, Endocrinology, Neurology, Mutation (genetic algorithm), Mutation, biology.protein, Female, Neurology (clinical), Psychology, Cognition Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3da30cccc0fa854513e1d71baf09b51Test
https://pubmed.ncbi.nlm.nih.gov/17013908Test

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

المؤلفون: Xavier Jeanrenaud, Thierry Kuntzer, Duygu Selcen, Murielle Dunand, Francine Thonney, Johannes Alexander Lobrinus, Jean-Marc Burgunder, S. Rudnik-Schöneborn

المصدر: Neuromuscular Disorders. 19:570

مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Neurology, business.industry, Internal medicine, Pediatrics, Perinatology and Child Health, Physical therapy, medicine, Neurology (clinical), business, Myofibril, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::499d71e25d06b758718db7f2baf4b7c7Test
https://doi.org/10.1016/j.nmd.2009.06.086Test