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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: 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
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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 -
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المؤلفون: Rong Peng, X.-K. An, W.-J. Chen, G.-G. Yuan, Jin-Hong Zhang, X.-Y. Mao, Yingcheng Wang, Zhichao Zhang, Jean-Marc Burgunder, Yuejing Wu, Y.-R. Gou, Yanming Xu
المصدر: Neuroscience letters. 442(3)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Parkinson's disease, Population, Disease, Polymorphism, Single Nucleotide, Degenerative disease, Asian People, Polymorphism (computer science), medicine, Humans, Genetic Predisposition to Disease, Allele, education, Aged, Genetics, Aged, 80 and over, education.field_of_study, business.industry, Reverse Transcriptase Polymerase Chain Reaction, General Neuroscience, Parkinson Disease, Middle Aged, medicine.disease, Genotype frequency, Case-Control Studies, Female, Gene polymorphism, business, Ubiquitin Thiolesterase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a75b03d90490e7a92826c46526ca49fTest
https://pubmed.ncbi.nlm.nih.gov/18638528Test -
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المؤلفون: Hui-Fang Shang, Jian-Gang Wang, Qin Chen, Qiyong Gong, Dong Zhou, Su Lui, Jean-Marc Burgunder, Luo Ouyang
المصدر: Neuroscience letters. 441(1)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Brain Mapping, Internal capsule, Hereditary spastic paraplegia, Spastic Paraplegia, Hereditary, General Neuroscience, Statistical parametric mapping, Corpus callosum, medicine.disease, Corpus Callosum, White matter, medicine.anatomical_structure, Diffusion Magnetic Resonance Imaging, Fractional anisotropy, medicine, Cingulum (brain), Humans, Agenesis of Corpus Callosum, Psychology, Diffusion MRI
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfea08e763743be381c53d1201914d2aTest
https://pubmed.ncbi.nlm.nih.gov/18586399Test