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1
المؤلفون: Klein, C., Hagenah, J., Landwehrmeyer, B., Münte, T., Klockgether, T.
المصدر: Der Nervenarzt 82(8), 994-1001 (2011). doi:10.1007/s00115-011-3258-y
مصطلحات موضوعية: genetics [Genetic Markers], Adult, Genetic Markers, genetics [Heredodegenerative Disorders, Nervous System], Endophenotypes, genetics [Alzheimer Disease], Neuropsychological Tests, genetics [Huntington Disease], pathology [Brain], genetics [Parkinson Disease], Alzheimer Disease, Predictive Value of Tests, diagnosis [Heredodegenerative Disorders, Nervous System], Image Processing, Computer-Assisted, Humans, Spinocerebellar Ataxias, diagnosis [Spinocerebellar Ataxias], ddc:610, genetics [Spinocerebellar Ataxias], Neurologic Examination, diagnosis [Alzheimer Disease], Brain, Parkinson Disease, diagnosis [Huntington Disease], Magnetic Resonance Imaging, Early Diagnosis, Huntington Disease, Positron-Emission Tomography, Asymptomatic Diseases, Disease Progression, Heredodegenerative Disorders, Nervous System, Trinucleotide Repeat Expansion, diagnosis [Parkinson Disease], genetics [Trinucleotide Repeat Expansion], Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::177e66e94da2114d989d13dfc84990e5Test
https://pubmed.ncbi.nlm.nih.gov/21789693Test -
2
المؤلفون: Drepper, Michael
المساهمون: Grodd, Wolfgang
مصطلحات موضوعية: Makromoleküle, Proton MR Spectroscopy , macromolecules , glutamine , glutamate , trinucleotide repeat disease, Protonen-NMR-Spektroskopie , Glutamin , Spinozerebellare Ataxie , Metabolit
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______707::5b18c03072e18c1fbe00061ebd70412eTest
https://hdl.handle.net/10900/45056Test -
3
المؤلفون: Schittenhelm, Jens
المساهمون: Rieß, Olaf
مصطلحات موضوعية: spinocerebellar ataxia, trinucleotide repeat disorder, premutation, Kleinhirnataxie, Polymorphismus, Polymerase-Kettenreaktion , Kapillarelektrophorese, Trinukleotidexpansion, FMR1, Prämutation
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______707::74982022701d1736873c8447194a5eb8Test
https://hdl.handle.net/10900/44779Test -
4
المؤلفون: C, Schneider, K, Reiners, K V, Toyka
المصدر: Der Nervenarzt. 72(8)
مصطلحات موضوعية: Genetic Linkage, Biopsy, DNA Mutational Analysis, Humans, Myotonic Dystrophy, Chromosomes, Human, Pair 3, Chromosome Deletion, Muscle, Skeletal, Trinucleotide Repeat Expansion, Chromosomes, Human, Pair 19, Ion Channels
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f98f3c82bc04c1ca8b4c9f577740a05aTest
https://pubmed.ncbi.nlm.nih.gov/11519202Test -
5
المؤلفون: O, Gunkel, H, Reichenbach, B, Thamm, U, Wetzel, S, Bratanow, M, Kirchhof, B, Lauer, U, Froster, G, Schuler
المصدر: Zeitschrift fur Kardiologie. 89(7)
مصطلحات موضوعية: Adult, Cardiomyopathy, Dilated, Male, Adolescent, Bundle-Branch Block, Age Factors, Clinical Enzyme Tests, Electrocardiography, Heart Block, Echocardiography, Humans, Myotonic Dystrophy, Female, Trinucleotide Repeat Expansion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::663f3848e7bdc5d130c615a9abe8d720Test
https://pubmed.ncbi.nlm.nih.gov/10957785Test -
6
المؤلفون: Salat, Ulrike
مصطلحات موضوعية: Trinucleotide repeat expansion, FMRP, Fragiles X-Syndrom, FMR1, Geschlechtsspezifische Transmission, Triplettrepeat, CGG, Fragile X syndrome
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2d5881f64b3e130e115cdfe42981fdbTest
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7رسالة جامعية
المؤلفون: Salat, Ulrike
مصطلحات موضوعية: CGG, FMR1, FMRP, Fragiles X-Syndrom, Geschlechtsspezifische Transmission, Triplettrepeat, Fragile X syndrome, Trinucleotide repeat expansion
وصف الملف: application/pdf
العلاقة: http://dx.doi.org/10.18725/OPARU-113Test; https://oparu.uni-ulm.de/xmlui/123456789/140Test; http://nbn-resolving.de/urn:nbn:de:bsz:289-vts-5091Test
الإتاحة: https://doi.org/10.18725/OPARU-113Test
https://oparu.uni-ulm.de/xmlui/123456789/140Test
http://nbn-resolving.de/urn:nbn:de:bsz:289-vts-5091Test -
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9رسالة جامعية
المؤلفون: Drepper, Michael
المساهمون: Grodd, Wolfgang
مصطلحات موضوعية: Protonen-NMR-Spektroskopie, Glutamin, Spinozerebellare Ataxie, Metabolit, Makromoleküle, Proton MR Spectroscopy, macromolecules, glutamine, glutamate, trinucleotide repeat disease
الوقت: 610
وصف الملف: application/pdf
العلاقة: 275778568; http://nbn-resolving.de/urn:nbn:de:bsz:21-opus-29196Test; http://hdl.handle.net/10900/45056Test
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10رسالة جامعية
المؤلفون: Schittenhelm, Jens
المساهمون: Rieß, Olaf
مصطلحات موضوعية: Kleinhirnataxie, Polymorphismus, Polymerase-Kettenreaktion, Kapillarelektrophorese, Trinukleotidexpansion, FMR1, Prämutation, spinocerebellar ataxia, trinucleotide repeat disorder, premutation
الوقت: 610
وصف الملف: application/pdf
العلاقة: 251943437; http://nbn-resolving.de/urn:nbn:de:bsz:21-opus-21695Test; http://hdl.handle.net/10900/44779Test