-
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: Davide Pareyson, Jean marc Burgunder, Michelangelo Mancuso, Josef Finsterer, Thomas Klopstock
المصدر: Mitochondrion 42, 1-10 (2018). doi:10.1016/j.mito.2017.10.003
مصطلحات موضوعية: Retinal Ganglion Cells, Pathology, medicine.medical_specialty, Ophthalmoplegia, Chronic Progressive External, Visual acuity, genetic structures, Mitochondrial disease, Respiratory chain, Vision Disorders, Biology, pathology [Retinal Ganglion Cells], Retinal ganglion, Optic neuropathy, 03 medical and health sciences, 0302 clinical medicine, Atrophy, medicine, Humans, 610 Medicine & health, Molecular Biology, medicine.diagnostic_test, pathology [Ophthalmoplegia, Chronic Progressive External], Disease Management, Optic Nerve, Cell Biology, Anatomy, medicine.disease, therapy [Ophthalmoplegia, Chronic Progressive External], eye diseases, etiology [Vision Disorders], diagnosis [Ophthalmoplegia, Chronic Progressive External], ddc:540, Mutation, 030221 ophthalmology & optometry, Optic nerve, Molecular Medicine, medicine.symptom, pathology [Optic Nerve], 030217 neurology & neurosurgery, Electroretinography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5935fa022a917be06aa7c8275559bbcdTest
-
3
المؤلفون: A. Von Fellenberg, Jean-Marc Burgunder, S. Lin
المصدر: Neuropathology and Applied Neurobiology. 30:255-266
مصطلحات موضوعية: Denervation, Muscle Denervation, Pathology, medicine.medical_specialty, Histology, Sarcolemma, biology, Colocalization, Pathology and Forensic Medicine, Cell biology, Neurology, Physiology (medical), Gene expression, Myosin, biology.protein, medicine, Desmin, Neurology (clinical), Dystrophin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::99fb42758e434c8554582a0bef523a4eTest
https://doi.org/10.1046/j.0305-1846.2004.00529.xTest