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Elsevier电子期刊(11)

在“Elsevier电子期刊”中，命中：11条，耗时：小于0.01 秒

在所有数据库中总计命中：18条

1.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

2.Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia

作者：Cinzia Tiloca^a ; ^b ; ^{cinzia.tiloca@gmail.com} ; Nicola Ticozzi^a ; Viviana Pensato^c ; Lucia Corrado^d ; Roberto Del Bo^e ; ^f ; Cinzia Bertolin^g ; Chiara Fenoglio^e ; ^f ; Stella Gagliardi^h ; Daniela Calini^a ; Giuseppe Lauriaⁱ ; Barbara Castellotti^c ; Alessandra Bagarotti^d ; Stefania Corti^e ; ^f ; Daniela Galimberti^e ; ^f ; Annachiara Cagnin^j ; Carlo Gabelli^k ; Michela Ranieri^e ; ^f ; Mauro Ceroni^h ; ^l ; Gabriele Siciliano^m ; Letizia Mazziniⁿ ; Cristina Cereda^h ; Elio Scarpini^e ; ^f ; Gianni Sorarù ; ^j ; Giacomo P. Comi^e ; ^f ; Sandra D'Alfonso^d ; Cinzia Gellera^c ; Antonia Ratti^a ; ^e ; John E. Landers^o ; ¹ ; Vincenzo Silani^a ; ^e ; ¹ ; The SLAGEN Consortium

关键词：Amyotrophic lateral sclerosis ; Frontotemporal dementia ; Profilin 1 ; Mutation analysis

刊名：Neurobiology of Aging

出版年：2013

3.Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis

作者：Daniela Calini ; Lucia Corrado ; Roberto Del Bo ; Stella Gagliardi ; Viviana Pensato ; Federico Verde ; Stefania Corti ; Letizia Mazzini ; Pamela Milani ; Barbara Castellotti ; Cinzia Bertolin ; Gianni Sorar¨´ ; Cristina Cereda ; Giacomo P. Comi ; S ; ra D'Alfonso ; Cinzia Gellera ; Nicola Ticozzi ; John E. L ; ers ; Antonia Ratti ; Vincenzo Silani ; et al.

关键词：ALS ; Genetics ; hnRNP ; Prion-like domain ; IBMPFD

刊名：Neurobiology of Aging

出版年：2013

4.ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling

作者：Cinzia Gellera^a ; Nicola Ticozzi^b ; Viviana Pensato^a ; Lorenzo Nanetti^a ; Alessia Castucci^a ; Barbara Castellotti^a ; Giuseppe Lauria^c ; Franco Taroni^a ; Vincenzo Silani^b ; ^d ; Caterina Mariotti^a ; ^{mariotti.c@istituto-besta.it}

关键词：Spinocerebellar ataxia type 2 ; Ataxin 2 ; ATXN2 ; Amyotrophic lateral sclerosis ; Neurodegenerative disorders ; Triplet repeats ; CAG ; Polyglutamine disorders

刊名：Neurobiology of Aging

出版年：2012

5.Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis

作者：Cinzia Tiloca^a ; Antonia Ratti^a ; ^b ; Viviana Pensato^c ; Alessia Castucci^c ; Gianni Sorarù ; ^d ; Roberto Del Bo^b ; ^e ; Lucia Corrado^f ; Cristina Cereda^g ; Carla D'Ascenzo^d ; Giacomo P. Comi^b ; ^e ; Letizia Mazzini^h ; Barbara Castellotti^c ; Nicola Ticozzi^a ; Cinzia Gellera^c ; ¹ ; Vincenzo Silani^a ; ^b ; ^{vincenzo@silani.com} ; SLAGEN Consortium

关键词：ALS (Amyotrophic lateral sclerosis) ; VCP (valosin-containing protein) ; Genetics

刊名：Neurobiology of Aging

出版年：2012

6.C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect

作者：Antonia Ratti ; Lucia Corrado ; Barbara Castellotti ; Roberto Del Bo ; Isabella Fogh ; Cristina Cereda ; Cinzia Tiloca ; Carla D'Ascenzo ; Aless ; ra Bagarotti ; Viviana Pensato ; Michela Ranieri ; Stella Gagliardi ; Daniela Calini ; Letizia Mazzini ; Franco Taroni ; Stefania Corti ; Mauro Ceroni ; Gaia D. Oggioni ; Kuang Lin ; John F. Powell ; et al.

关键词：Amyotrophic lateral sclerosis ; Frontotemporal dementia ; C9ORF72 ; Repeat expansion ; Mutation analysis ; Haplotype analysis

刊名：Neurobiology of Aging

出版年：2012

7.Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: A novel GLUT-1 mutation with benign phenotype

作者：Tommaso Bovi^a ; ^{tommaso.bovi@gmail.com"" rel=""nofollow} ; Alfonso Fasano^b ; Ina Juergenson^a ; Cinzia Gellera^c ; Barbara Castellotti^c ; Elena Fontana^d ; Michele Tinazzi^a ; ^e

关键词：Paroxysmal exercise-induced dystonia ; Epilepsy ; GLUT-1 ; deficiency syndrome

刊名：Parkinsonism and Related Disorders

出版年：2011

8.No association of DPP6 with amyotrophic lateral sclerosis in an Italian population

作者：Isabella Fogh^a ; ^{I.Fogh@iop.kcl.ac.uk} ; Sandra D’ ; Alfonso^b ; Cinzia Gellera^c ; Antonia Ratti^d ; Cristina Cereda^e ; Silvana Penco^f ; Lucia Corrado^b ; Gianni Sorarù ; ^g ; Barbara Castellotti^c ; Cinzia Tiloca^d ; Stella Gagliardi^e ; Lorena Cozzi^f ; Michelle K. Lupton^a ; Nicola Ticozzi^d ; Letizia Mazzini^b ; Chris E. Shaw^a ; Ammar Al-Chalabi^a ; John Powell^aand Vincenzo Silani^d

关键词：Amyotrophic lateral sclerosis ; Genome-wide association study ; Polymorphism ; Dipeptidyl-peptidase 6 (DPP6) gene

刊名：Neurobiology of Aging

出版年：2011

9.Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2

作者：Elide Mantuano ; Silvia Romano ; Liana Veneziano ; Cinzia Gellera ; Barbara Castellotti ; Sara Caimi ; Daniela Testa ; Margherita Estienne ; Giovanna Zorzi ; Marianna Bugiani ; Yusuf A. Rajabally ; Maria J Garc&

关键词：EA2 ; Episodic ataxia ; Calcium channel ; CACNA1A ; Acetazolamide ; Paroxysmal torticollis

刊名：Journal of the Neurological Sciences

出版年：2010

10.Autosomal dominant lateral temporal epilepsy: Absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins

作者：Erica Diani ; Carlo Di Bonaventura ; Oriano Mecarelli ; Antonio Gambardella ; Maurizio Elia ; Giorgia Bovo ; Francesca Bisulli ; Federica Pinardi ; Simona Binelli ; Gabriella Egeo ; Barbara Castellotti ; Pasqual

关键词：Autosomal dominant lateral temporal epilepsy ; Genetics ; LGI1 ; Kv1 channel ; ADAM22 receptor ; Association studies

刊名：Epilepsy Research

出版年：2008

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