2014年6月3日,
;82 (22)
文章
扩大sialidosis光谱全基因组筛查
NEU1突变成人肌阵挛
劳拉Canafoglia,安吉拉Robbiano,大卫。Pareyson,Ferruccio Panzica,洛伦佐Nanetti,安娜丽塔Giovagnoli,安娜Venerando,Cinzia Gellera,西尔瓦娜Franceschetti,费德里科•扎拉
第一次出版2014年5月7日,
DOI: https://doi.org/10.1212/WNL.0000000000000482
劳拉Canafoglia
巴里和癫痫中心(开出信用证,F.P.,S.F.), Department of Neurology (D.P., L.N.), Laboratory of Cognitive Neurology and Rehabilitation, Neurology and Neuropathology Unit (A.R.G.), and Biochemistry and Genetics Department (A.V., C.G.), IRCCS Foundation C. Besta Neurological Institute, Milan; and Laboratory of Neurogenetics (A.R., F.Z.), Department of Neuroscience, Institute G. Gaslini, Genoa, Italy.
安吉拉Robbiano
巴里和癫痫中心(开出信用证,F.P.,S.F.), Department of Neurology (D.P., L.N.), Laboratory of Cognitive Neurology and Rehabilitation, Neurology and Neuropathology Unit (A.R.G.), and Biochemistry and Genetics Department (A.V., C.G.), IRCCS Foundation C. Besta Neurological Institute, Milan; and Laboratory of Neurogenetics (A.R., F.Z.), Department of Neuroscience, Institute G. Gaslini, Genoa, Italy.
大卫。Pareyson
巴里和癫痫中心(开出信用证,F.P.,S.F.), Department of Neurology (D.P., L.N.), Laboratory of Cognitive Neurology and Rehabilitation, Neurology and Neuropathology Unit (A.R.G.), and Biochemistry and Genetics Department (A.V., C.G.), IRCCS Foundation C. Besta Neurological Institute, Milan; and Laboratory of Neurogenetics (A.R., F.Z.), Department of Neuroscience, Institute G. Gaslini, Genoa, Italy.
Ferruccio Panzica
巴里和癫痫中心(开出信用证,F.P.,S.F.), Department of Neurology (D.P., L.N.), Laboratory of Cognitive Neurology and Rehabilitation, Neurology and Neuropathology Unit (A.R.G.), and Biochemistry and Genetics Department (A.V., C.G.), IRCCS Foundation C. Besta Neurological Institute, Milan; and Laboratory of Neurogenetics (A.R., F.Z.), Department of Neuroscience, Institute G. Gaslini, Genoa, Italy.
洛伦佐Nanetti
巴里和癫痫中心(开出信用证,F.P.,S.F.), Department of Neurology (D.P., L.N.), Laboratory of Cognitive Neurology and Rehabilitation, Neurology and Neuropathology Unit (A.R.G.), and Biochemistry and Genetics Department (A.V., C.G.), IRCCS Foundation C. Besta Neurological Institute, Milan; and Laboratory of Neurogenetics (A.R., F.Z.), Department of Neuroscience, Institute G. Gaslini, Genoa, Italy.
安娜丽塔Giovagnoli
巴里和癫痫中心(开出信用证,F.P.,S.F.), Department of Neurology (D.P., L.N.), Laboratory of Cognitive Neurology and Rehabilitation, Neurology and Neuropathology Unit (A.R.G.), and Biochemistry and Genetics Department (A.V., C.G.), IRCCS Foundation C. Besta Neurological Institute, Milan; and Laboratory of Neurogenetics (A.R., F.Z.), Department of Neuroscience, Institute G. Gaslini, Genoa, Italy.
安娜Venerando
巴里和癫痫中心(开出信用证,F.P.,S.F.), Department of Neurology (D.P., L.N.), Laboratory of Cognitive Neurology and Rehabilitation, Neurology and Neuropathology Unit (A.R.G.), and Biochemistry and Genetics Department (A.V., C.G.), IRCCS Foundation C. Besta Neurological Institute, Milan; and Laboratory of Neurogenetics (A.R., F.Z.), Department of Neuroscience, Institute G. Gaslini, Genoa, Italy.
Cinzia Gellera
巴里和癫痫中心(开出信用证,F.P.,S.F.), Department of Neurology (D.P., L.N.), Laboratory of Cognitive Neurology and Rehabilitation, Neurology and Neuropathology Unit (A.R.G.), and Biochemistry and Genetics Department (A.V., C.G.), IRCCS Foundation C. Besta Neurological Institute, Milan; and Laboratory of Neurogenetics (A.R., F.Z.), Department of Neuroscience, Institute G. Gaslini, Genoa, Italy.
西尔瓦娜Franceschetti
巴里和癫痫中心(开出信用证,F.P.,S.F.), Department of Neurology (D.P., L.N.), Laboratory of Cognitive Neurology and Rehabilitation, Neurology and Neuropathology Unit (A.R.G.), and Biochemistry and Genetics Department (A.V., C.G.), IRCCS Foundation C. Besta Neurological Institute, Milan; and Laboratory of Neurogenetics (A.R., F.Z.), Department of Neuroscience, Institute G. Gaslini, Genoa, Italy.
费德里科•扎拉
巴里和癫痫中心(开出信用证,F.P.,S.F.), Department of Neurology (D.P., L.N.), Laboratory of Cognitive Neurology and Rehabilitation, Neurology and Neuropathology Unit (A.R.G.), and Biochemistry and Genetics Department (A.V., C.G.), IRCCS Foundation C. Besta Neurological Institute, Milan; and Laboratory of Neurogenetics (A.R., F.Z.), Department of Neuroscience, Institute G. Gaslini, Genoa, Italy.
扩大sialidosis光谱全基因组筛查
NEU1突变成人肌阵挛
劳拉Canafoglia,安琪拉Robbiano,大卫。Pareyson,FerruccioPanzica,洛伦佐Nanetti,安娜丽塔Giovagnoli,安娜Venerando,CinziaGellera,西尔瓦娜Franceschetti,费德里科•Zara
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2014年6月,
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2003 - 2006;
DOI:10.1212 / WNL.0000000000000482
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