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Elsevier电子期刊(5)

在“Elsevier电子期刊”中，命中：5条，耗时：0.1489096 秒

在所有数据库中总计命中：5条

1.Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing

作者：Elena Piccoli^a ; ¹ ; Giacomina Rossi^a ; ¹ ; ^{grossi@istituto-besta.it" class="auth_mail" title="E-mail the corresponding author} ; Tommaso Rossi^b ; Giuseppe Pelliccioni^b ; Ilaria D'Amato^a ; Fabrizio Tagliavini^a ; Giuseppe Di Fede^a

关键词：Alzheimer's disease ; PSEN1 ; Mutation ; Targeted exome sequencing

刊名：Neurobiology of Aging

出版年：2016

2.Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features

作者：Celeste M. Karch^a ; ^b ; Lubov Ezerskiy^a ; Veronica Redaelli^c ; Anna Rita Giovagnoli^c ; Pietro Tiraboschi^c ; Giuseppe Pelliccioni^d ; Paolo Pelliccioni^d ; Dimos Kapetis^e ; Ilaria D'Amato^c ; Elena Piccoli^c ; Maria Giulia Ferretti^c ; Fabrizio Tagliavini^c ; Giacomina Rossi^c ; ^{grossi@istituto-besta.it" class="auth_mail" title="E-mail the corresponding author}

关键词：Progranulin ; GRN ; Mutation ; Frontotemporal lobar degeneration ; Pathogenetic ; Functional analysis

刊名：Neurobiology of Aging

出版年：2016

3.Intrathecal synthesis of onconeural antibodies in patients with paraneoplastic syndromes

作者：Elena Corsini^a ; ^{corsini.e@istituto-besta.it" class="auth_mail" title="E-mail the corresponding author} ; Paola Gaviani^b ; Luisa Chiapparini^c ; Monica Lazzaroni^a ; Emilio Ciusani^a ; Raffaele Bisogno^c ; Antonio Silvani^b ; Andrea Salmaggi^d ; Gaetano Bernardi^a

关键词：Onconeural antibodies ; Paraneoplastic neurological syndromes ; Cerebrospinal fluid ; MRI ; Intrathecal synthesis

刊名：Journal of Neuroimmunology

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

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作者(5)

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2016年(5)

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