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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003805naa a2200613 4500
001oai:DiVA.org:umu-104546
003SwePub
008150611s2011 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1045462 URI
0247 a https://doi.org/10.1111/j.1468-1331.2010.03069.x2 DOI
040 a (SwePub)umu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Burgunder, J-M4 aut
2451 0a EFNS guidelines for the molecular diagnosis of neurogenetic disorders :b motoneuron, peripheral nerve and muscle disorders
264 c 2011-01-17
264 1b Wiley-Blackwell,c 2011
338 a print2 rdacarrier
520 a Objectives: These EFNS guidelines on the molecular diagnosis of motoneuron disorders, neuropathies and myopathies are designed to summarize the possibilities and limitations of molecular genetic techniques and to provide diagnostic criteria for deciding when a molecular diagnostic work-up is indicated. Search strategy: To collect data about planning, conditions and performance of molecular diagnosis of these disorders, a literature search in various electronic databases was carried out and original papers, meta-analyses, review papers and guideline recommendations reviewed. Results: The best level of evidence for genetic testing recommendation (B) can be found for the disorders with specific presentations, including familial amyotrophic lateral sclerosis, spinal and bulbar muscular atrophy, Charcot-Marie-Tooth 1A, myotonic dystrophy and Duchenne muscular dystrophy. For a number of less common disorders, a precise description of the phenotype, including the use of immunologic methods in the case of myopathies, is considered as good clinical practice to guide molecular genetic testing. Conclusion: These guidelines are provisional and the future availability of molecular-genetic epidemiological data about the neurogenetic disorders under discussion in this article will allow improved recommendation with an increased level of evidence.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng
653 a amyotrophic lateral sclerosis
653 a EFNS task force
653 a Molecular diagnosis
653 a myopathy
653 a neurogenetics
653 a polyneuropathy
653 a spinal muscular atrophy
7001 a Schöls, L4 aut
7001 a Baets, J4 aut
7001 a Andersen, Peteru Umeå universitet,Klinisk neurovetenskap4 aut0 (Swepub:umu)pean0001
7001 a Gasser, T4 aut
7001 a Szolnoki, Z4 aut
7001 a Fontaine, B4 aut
7001 a Van Broeckhoven, C4 aut
7001 a Di Donato, S4 aut
7001 a De Jonghe, P4 aut
7001 a Lynch, T4 aut
7001 a Mariotti, C4 aut
7001 a Spinazzola, A4 aut
7001 a Tabrizi, S J4 aut
7001 a Tallaksen, C4 aut
7001 a Zeviani, M4 aut
7001 a Harbo, H F4 aut
7001 a Finsterer, J4 aut
7102 a Umeå universitetb Klinisk neurovetenskap4 org
7730 t European Journal of Neurologyd : Wiley-Blackwellg 18:2, s. 207-E20q 18:2<207-E20x 1351-5101x 1468-1331
8564 u https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/j.1468-1331.2010.03069.x
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-104546
8564 8u https://doi.org/10.1111/j.1468-1331.2010.03069.x

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