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Molecular diagnosis...
Molecular diagnosis of neurogenetic disorders : motoneuron, peripheral nerve and muscle disorders
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- Burgunder, J-M. (författare)
- University of Bern, Switzerland
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- Schöls, L. (författare)
- University of Tübingen, Tübingen, Germany
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- Baets, J. (författare)
- University Hospital of Antwerp, Antwerp, Belgium; VIB, Antwerp, Belgium; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium
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- Andersen, Peter M., 1962- (författare)
- Umeå universitet,Klinisk neurovetenskap
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- Gasser, T. (författare)
- University of Tübingen, Tübingen, Germany
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- Szolnoki, Z. (författare)
- Pandy County Hospital, Gyula, Hungary
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- Fontaine, B. (författare)
- Assistance Publique-Hôpitaux de Paris, Centre de référence des canalopathies musculaires, Groupe Hospitalier Pitié-Salpêtrière, Paris, France
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- Van Broeckhoven, C. (författare)
- VIB, Antwerp, Belgium; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium
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- Di Donato, S. (författare)
- Fondazione-IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy
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- De Jonghe, P. (författare)
- University Hospital of Antwerp, Antwerp, Belgium; VIB, Antwerp, Belgium; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium
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- Lynch, T. (författare)
- Mater Misericordiae University, Beaumont and Mater Private Hospitals, Dublin, Ireland
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- Mariotti, C. (författare)
- IRCCS Foundation, Neurological Institute Carlo Besta, Milan, Italy
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- Spinazzola, A. (författare)
- IRCCS Foundation, Neurological Institute Carlo Besta, Milan, Italy
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- Tabrizi, S.J. (författare)
- Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom
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- Tallaksen, C. (författare)
- University Hospital, Ullevål, Oslo, Norway; Faculty Division, Ullevål University Hospital, University of Oslo, Oslo, Norway
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- Zeviani, M. (författare)
- KA Rudolfstiftung, Danube University Krems, Vienna, Austria
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- Harbo, H.F. (författare)
- Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom
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- Finsterer, J. (författare)
- KA Rudolfstiftung, Danube University Krems, Vienna, Austria
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(creator_code:org_t)
- 2
- 2011-09-21
- 2012
- Engelska.
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Ingår i: European handbook of neurological management. - Oxford, UK : Wiley-Blackwell. - 9781444346268 - 9781405185349 ; , s. 97-109
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
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- Objectives: The 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 the 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 (Level B) can be found for the disorders with specific presentations, including familial ALS, 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 immunological methods in the case of myopathies, is considered good clinical practice to guide molecular genetic testing.Conclusion: These guidelines are provisional and the availability of molecular-genetic epidemiological data in the future about the neurogenetic disorders under discussion in the present paper will allow improved recommendation with an increased level of evidence.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
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Burgunder, J-M.
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Schöls, L.
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Baets, J.
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Andersen, Peter ...
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Gasser, T.
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Szolnoki, Z.
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visa fler...
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Fontaine, B.
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Van Broeckhoven, ...
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Di Donato, S.
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De Jonghe, P.
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Lynch, T.
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Mariotti, C.
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Spinazzola, A.
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Tabrizi, S.J.
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Tallaksen, C.
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Zeviani, M.
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Harbo, H.F.
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Finsterer, J.
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European handboo ...
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Umeå universitet