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EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders.

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第一作者: J-M,Burgunder
第一单位: Department of Neurology, University of Bern, Switzerland.
作者: J-M,Burgunder [1] ; L,Schöls [2] ; J,Baets [3] ; P,Andersen [4] ; T,Gasser [5] ; Z,Szolnoki [6] ; B,Fontaine [7] ; C,Van Broeckhoven [8] ; S,Di Donato [9] ; P,De Jonghe [3] ; T,Lynch [10] ; C,Mariotti [11] ; A,Spinazzola [12] ; S J,Tabrizi [13] ; C,Tallaksen [14] ; M,Zeviani [9] ; H F,Harbo [14] ; J,Finsterer [15]
作者单位: Department of Neurology, University of Bern, Switzerland. [1] Clinical Neurogenetics, Hertie-Institute for Clinical Brain Research, and German Center for Neurodegenerative Diseases University of Tübingen, Tübingen, Germany. [2] Department of Neurology, University Hospital of Antwerp, Antwerpen, Belgium.;Department of Molecular Genetics, VIB; Antwerpen, Belgium.;Laboratory of Neurogenetics, Institute Born-Bunge, and University of Antwerp, Antwerpen, Belgium. [3] Institute of Clinical Neuroscience, Umeå University, Umeå, Sweden. [4] Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, and German Center for Neurodegenerative Diseases of Tübingen, Tübingen, Germany. [5] Department of Neurology and Cerebrovascular Diseases, Pandy County Hospital, Gyula, Hungary. [6] Assistance Publique-Hôpitaux de Paris, Centre de référence des canalopathies musculaires, Groupe Hospitalier Pitié-Salpêtrière, Paris, France. [7] Department of Molecular Genetics, VIB; Antwerpen, Belgium.;Laboratory of Neurogenetics, Institute Born-Bunge, and University of Antwerp, Antwerpen, Belgium. [8] Fondazione-IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy. [9] The Dublin Neurological Institute, Mater Misericordiae University, Beaumont & Mater Private Hospitals, Dublin, Ireland. [10] Unit of Genetic of Neurodegenerative and Metabolic Diseases, IRCCS Foundation, Neurological Institute Carlo Besta, Milan, Italy. [11] Division of Molecular Neurogenetics, IRCCS Foundation Neurological Institute Carlo Besta, Milan, Italy. [12] Department of Neurodegenerative Disease, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK. [13] Department of Neurology, Oslo University Hospital, Ullevål, Oslo; Norway Faculty Division, Ullevål University Hospital, University of Oslo, Oslo, Norway. [14] Department of Neurology, KA Rudolfstiftung, Vienna and Danube University Krems, Austria. [15]
DOI 10.1111/j.1468-1331.2010.03069.x
PMID 20500522
发布时间 2022-04-08
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European journal of neurology

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