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Elsevier电子期刊(6)

在“Elsevier电子期刊”中，命中：6条，耗时：0.1579281 秒

在所有数据库中总计命中：6条

1.Increased expression of Toll-like receptors 7 and 9 in myasthenia gravis thymus characterized by active Epstein-Barr virus infection

关键词：MG ; myasthenia gravis ; EBV ; Epstein&ndash ; Barr virus ; TLR ; Toll-like receptor ; GC ; germinal center ; IFN ; interferon ; AChR ; acetylcholine receptor ; EBER ; EBV-encoded small RNA ; LCM ; laser-capture microdissection ; IRF8 ; interferon regulatory factor 8 ; LMP1 ; Epstein&ndash ; Barr virus latent membrane protein 1 ; DAPI ; 4&prime ; 6-diamidino-2-phenylindole ; dihydrochloride ; TEC ; thymic epithelial cells ; pDC ; plasmacytoid dendritic cell ; mDC ; myeloid dendritic cell ; SLE ; systemic lupus erythematosus ; RA

刊名：Immunobiology

出版年：2016

2.New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

作者：Andrea Legati^a ; Aurelio Reyes^b ; Alessia Nasca^a ; Federica Invernizzi^a ; Eleonora Lamantea^a ; Valeria Tiranti^a ; Barbara Garavaglia^a ; Costanza Lamperti^a ; Anna Ardissone^c ; Isabella Moroni^c ; Alan Robinson^b ; Daniele Ghezzi^a ; ^{dghezzi@istituto-besta.it" class="auth_mail" title="E-mail the corresponding author} ; Massimo Zeviani^b ; ^{mdz21@mrc-mbu.cam.ac.uk" class="auth_mail" title="E-mail the corresponding author}

关键词：Mitochondrial disorders ; Next Generation Sequencing ; Whole Exome sequencing ; E4F1

刊名：Biochimica et Biophysica Acta (BBA) - Bioenergetics

出版年：2016

3.Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype

作者：Miryam Carecchio^a ; ^b ; Celeste Panteghini^a ; Chiara Reale^a ; Chiara Barzaghi^a ; Valentina Monti^a ; Luigi Romito^c ; Francesco Sasanelli^d ; Barbara Garavaglia^a ; ^{garavaglia@istituto-besta.it" class="auth_mail" title="E-mail the corresponding author}

关键词：GNAL ; Dystonia ; Tremor ; Phenotype

刊名：Parkinsonism & Related Disorders

出版年：2016

4.In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria

作者：Elena Anghileri^a ; ^{elena.anghileri@istituto-besta.it" class="auth_mail" title="E-mail the corresponding author} ; Nicola Bertolino^b ; Ettore Salsano^c ; Luigi Antelmi^d ; Patrizia Carpinelli^e ; Barbara Castellotti^f ; Ileana Zucca^b ; Cinzia Gellera^f ; Raffaele Bisogno^g ; ^h ; Claudio Caccia^f ; Valeria Cuccarini^g

关键词：ADC ; Apparent Diffusion Coefficient ; cMRI ; conventional magnetic resonance imaging ; CRBL ; Cramé ; r-Rao lower bounds ; CSF ; cerebro-spinal fluid ; DWI ; Diffusion weighted images ; EDDS ; Expanded Disability Status Scale ; FLAIR ; Fluid-Attenuated Inversion Recovery ; L2HG ; L-2-hydroxyglutarate ; L2HGA ; L-2-Hydroxyglutaric aciduria ; L2HGDH ; L-2-hydroxyglutarate dehydrogenase gene ; IDH ; Isocitrate-Dehydrogenase 1/2 ; MRM ; multiple reaction monitoring mode ; MRS ; Magnetic resonance spectroscopy ; NAA ; N-a

刊名：Brain Research

出版年：2016

5.Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients

作者：Costanza Lamperti^a ; Federica Invernizzi^a ; Roberta Solazzi^b ; Elena Freri^b ; Francesco Carella^c ; Massimo Zeviani^d ; Federica Zibordi^b ; Carlo Fusco^e ; Giovanna Zorzi^b ; Tiziana Granata^b ; Barbara Garavaglia^a ; Nardo Nardocci^b ; ^{nnardocci@istituto-besta.it" class="auth_mail" title="E-mail the corresponding author}

关键词：PRRT2 ; Paroxysmal kinesigenic dyskinesia ; Epilepsy ; Dystonia ; Autosomal dominant

刊名：European Journal of Paediatric Neurology

出版年：2016

6.Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum

作者：Federica Natacci^a ; Enrico Alfei^b ; ^{enrico.alfei@istituto-besta.it" class="auth_mail" title="E-mail the corresponding author} ; Lucia Tararà ; ^b ; Stefano D'Arrigo^b ; Orsetta Zuffardi^c ; Barbara Gentilin^a ; Chiara Pantaleoni^b

关键词：Psychomotor delay ; Intellectual disability ; Autism spectrum disorder ; 17q21.31 microduplication ; Genetic syndrome ; KANSL1

刊名：European Journal of Paediatric Neurology

出版年：2016

按检索点细分(6)

作者(6)

按出版年细分(6)

2016年(6)

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