-
1
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 -
2
المؤلفون: Jean-Marc Burgunder, Claus Kiefer, Roland Wiest
المصدر: Wiest, Roland; Burgunder, Jean-Marc; Kiefer, Claus (2017). Model-Based Magnetization Transfer Imaging Markers to Characterize Patients and Asymptomatic Gene Carriers in Huntington's Disease. Frontiers in neurology, 8(465), p. 465. Frontiers Media S.A. 10.3389/fneur.2017.00465 <http://dx.doi.org/10.3389/fneur.2017.00465Test>
Frontiers in Neurology
Frontiers in Neurology, Vol 8 (2017)مصطلحات موضوعية: 0301 basic medicine, Oncology, Pathology, medicine.medical_specialty, Caudate nucleus, 610 Medicine & health, Disease, Neuroprotection, Asymptomatic, lcsh:RC346-429, 03 medical and health sciences, 0302 clinical medicine, Huntington's disease, Neuroimaging, Internal medicine, medicine, magnetization transfer imaging, Magnetization transfer, pre-Huntington’s disease gene carriers, Disease burden, lcsh:Neurology. Diseases of the nervous system, Original Research, business.industry, caudate nucleus, medicine.disease, 030104 developmental biology, Neurology, classification, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Neuroscience, Huntington’s disease
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::744964c3907f82a52f7310696a226baaTest
https://boris.unibe.ch/105631/1/fneur-08-00465.pdfTest -
3
المؤلفون: Jin-Hong Zhang, Xingkai An, Wenjun Chen, Yingru Gou, Yan Wu, Jean-Marc Burgunder, Yanming Xu, Guanggu Yuan, Yingcheng Wang, Rong Peng, Xue-Ye Mao, Zijuan Zhang
المصدر: Movement Disorders. 24:1902-1905
مصطلحات موضوعية: medicine.medical_specialty, education.field_of_study, Pathology, Parkinson's disease, business.industry, Population, Late onset, Odds ratio, medicine.disease, Gastroenterology, LRRK2, Central nervous system disease, Neurology, Internal medicine, Cohort, Medicine, Neurology (clinical), Risk factor, business, education
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::777ee45cb14245bc8d90b0ba2b8fcabfTest
https://doi.org/10.1002/mds.22371Test -
4
المؤلفون: Huifang Shang, D. Lang, Jean-Marc Burgunder, A. Kaelin-Lang, N. Clerc
المصدر: European Journal of Neurology. 12:131-138
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, Disease, Polymerase Chain Reaction, Torsion dystonia, Exon, SGCE, Sarcoglycans, Internal medicine, otorhinolaryngologic diseases, medicine, Humans, Age of Onset, Family history, GTP Cyclohydrolase, Polymorphism, Single-Stranded Conformational, Dystonia, Polymorphism, Genetic, Genetic heterogeneity, business.industry, medicine.disease, nervous system diseases, Neurology, Dystonic Disorders, Mutation, Female, Neurology (clinical), Age of onset, business, Molecular Chaperones
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6f50cc9fb3b5283bceda48d9c588551Test
https://doi.org/10.1111/j.1468-1331.2004.00974.xTest