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سفارش

Reducing the number of patients needed in disease modifying trials for parkinsonian disorders

Tom Foltynie

doi : 10.1093/brain/awad179

Brain, Volume 146, Issue 8, August 2023, Pages 3101–3102

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Lost in translation

Lee Millard, David Setters, Nicola Waters, Emma Moss, Chris Johnson QPM

doi : 10.1093/brain/awad144

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Towards in vivo PET imaging of primary age-related tauopathy

Joseph Therriault, Michel J Grothe

doi : 10.1093/brain/awad210

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A cholinergic contribution to postural control and freezing of gait in Parkinson’s disease

Alison J Yarnall, Rosie Morris

doi : 10.1093/brain/awad223

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When brain size matters: novel insights into brain volume control

Renske Oegema

doi : 10.1093/brain/awad230

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Targeted immunotherapy for HTLV-1-associated myelopathy: a step in the right direction

Nicholas W S Davies, Graham P Taylor

doi : 10.1093/brain/awad229

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Impaired dopamine release in Parkinson’s disease

Kaitlyn M L Cramb, Dayne Beccano-Kelly, Stephanie J Cragg, Richard Wade-Martins

doi : 10.1093/brain/awad064

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The anatomy of neuroepithelial tumours

Kevin Akeret, Michael Weller, Niklaus Krayenbühl

doi : 10.1093/brain/awad138

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The return of the lesion for localization and therapy

Juho Joutsa, Nir Lipsman, Andreas Horn, G Rees Cosgrove, Michael D Fox

doi : 10.1093/brain/awad123

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Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm

Guy Lenaers, Cléis Beaulieu, Majida Charif, Sylvie Gerber, Josseline Kaplan, Jean-Michel Rozet

doi : 10.1093/brain/awad131

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Cation leak through the ATP1A3 pump causes spasticity and intellectual disability

Daniel G Calame, Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Javaher Poupak, Corina Heller, Julie Cohen, Richard Person, Aida Telegrafi, Chalongchai Phitsanuwong, Kaylene Fiala, Isabelle Thiffault, Florencia Del Viso, Dihong Zhou, Emily A Fleming, Tomi Pastinen, Ali Fatemi, Sruthi Thomas, Samuel I Pascual, Rosa J Torres, Carmen Prior, Clara Gómez-González, Saskia Biskup, James R Lupski, Dragan Maric, Miguel Holmgren, Debra Regier, Sho T Yano

doi : 10.1093/brain/awad124

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Epsin2, a novel target for multiple system atrophy therapy via α-synuclein/FABP7 propagation

An Cheng, Ichiro Kawahata, Yifei Wang, Wenbin Jia, Haoyang Wang, Tomoki Sekimori, Yi Chen, Hiroyoshi Suzuki, Atsushi Takeda, Nadia Stefanova, David I Finkelstein, Wenbo Ma, Min Chen, Takuya Sasaki, Kohji Fukunaga

doi : 10.1093/brain/awad137

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Long-term safety and efficacy of mogamulizumab (anti-CCR4) for treating virus-associated myelopathy

Tomoo Sato, Junji Yamauchi, Naoko Yagishita, Natsumi Araya, Naoki Takao, Yuki Ohta, Eisuke Inoue, Masaki Takahashi, Makoto Yamagishi, Yutaka Suzuki, Kaoru Uchimaru, Naoki Matsumoto, Yasuhiro Hasegawa, Yoshihisa Yamano

doi : 10.1093/brain/awad139

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Age-related and amyloid-beta-independent tau deposition and its downstream effects

Anika Wuestefeld, Alexa Pichet Binette, David Berron, Nicola Spotorno, Danielle van Westen, Erik Stomrud, Niklas Mattsson-Carlgren, Olof Strandberg, Ruben Smith, Sebastian Palmqvist, Trevor Glenn, Svenja Moes, Michael Honer, Konstantinos Arfanakis, Lisa L Barnes, David A Bennett, Julie A Schneider, Laura E M Wisse, Oskar Hansson

doi : 10.1093/brain/awad135

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Tau–RNA complexes inhibit microtubule polymerization and drive disease-relevant conformation change

Pamela J McMillan, Sarah J Benbow, Rikki Uhrich, Aleen Saxton, Misa Baum, Timothy Strovas, Jeanna M Wheeler, Jeremy Baker, Nicole F Liachko, C Dirk Keene, Caitlin S Latimer, Brian C Kraemer

doi : 10.1093/brain/awad032

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Microglial activation in the frontal cortex predicts cognitive decline in frontotemporal dementia

Maura Malpetti, Thomas E Cope, Duncan Street, P Simon Jones, Frank H Hezemans, Elijah Mak, Kamen A Tsvetanov, Timothy Rittman, W Richard Bevan-Jones, Karalyn Patterson, Luca Passamonti, Tim D Fryer, Young T Hong, Franklin I Aigbirhio, John T O’Brien, James B Rowe

doi : 10.1093/brain/awad078

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Progression of atypical parkinsonian syndromes: PROSPECT-M-UK study implications for clinical trials

Duncan Street, Edwin Jabbari, Alyssa Costantini, P Simon Jones, Negin Holland, Timothy Rittman, Marte T Jensen, Viorica Chelban, Yen Y Goh, Tong Guo, Amanda J Heslegrave, Federico Roncaroli, Johannes C Klein, Olaf Ansorge, Kieren S J Allinson, Zane Jaunmuktane, Tamas Revesz, Thomas T Warner, Andrew J Lees, Henrik Zetterberg, Lucy L Russell, Martina Bocchetta, Jonathan D Rohrer, David J Burn, Nicola Pavese, Alexander Gerhard, Christopher Kobylecki, P Nigel Leigh, Alistair Church, Michele T M Hu, Henry Houlden, Huw Morris, James B Rowe

doi : 10.1093/brain/awad105

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Cholinergic system correlates of postural control changes in Parkinson’s disease freezers

Stiven Roytman, Rebecca Paalanen, Alexis Griggs, Simon David, Chatkaew Pongmala, Robert A Koeppe, Peter J H Scott, Uros Marusic, Prabesh Kanel, Nicolaas I Bohnen

doi : 10.1093/brain/awad134

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Progression of clinical markers in prodromal Parkinson’s disease and dementia with Lewy bodies: a multicentre study

Stephen Joza, Michele T Hu, Ki-Young Jung, Dieter Kunz, Ambra Stefani, Petr Dušek, Michele Terzaghi, Dario Arnaldi, Aleksandar Videnovic, Mya C Schiess, Wiebke Hermann, Jee-Young Lee, Luigi Ferini-Strambi, Simon J G Lewis, Laurène Leclair-Visonneau, Wolfgang H Oertel, Elena Antelmi, Friederike Sixel-Döring, Valérie Cochen De Cock, Claudio Liguori, Jun Liu, Federica Provini, Monica Puligheddu, Alessandra Nicoletti, Claudio L A Bassetti, Jitka Bušková, Yves Dauvilliers, Raffaele Ferri, Jacques Y Montplaisir, Michael Lawton, Han-Joon Kim, Frederik Bes, Birgit Högl, Karel Šonka, Giuseppe Fiamingo, Pietro Mattioli, Maria Lorena Lavadia, Jessika Suescun, Kyung Ah Woo, Sara Marelli, Kaylena Ehgoetz Martens, Annette Janzen, Giuseppe Plazzi, Brit Mollenhauer, Mariana Fernandes, Yuanyuan Li, Pietro Cortelli, Michela Figorilli, Calogero Edoardo Cicero, Carolin Schaefer, Lily Guiraud, Giuseppe Lanza, Jean-François Gagnon, Jun-Sang Sunwoo, Abubaker Ibrahim, Nicola Girtler, Claudia Trenkwalder, Luca Baldelli, Amelie Pelletier, Ronald B Postuma, for the International REM Sleep Behavior Disorder Study Group

doi : 10.1093/brain/awad072

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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Angela Abicht, Sébastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Erin H Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Christodoulou, Wendy K Chung, Rose Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian

doi : 10.1093/brain/awad039

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Defining the phenotypic spectrum of sporadic Creutzfeldt–Jakob disease MV2K: the kuru plaque type

Simone Baiardi, Angela Mammana, Sofia Dellavalle, Marcello Rossi, Veronica Redaelli, Elisa Colaizzo, Giuseppe Di Fede, Anna Ladogana, Sabina Capellari, Piero Parchi

doi : 10.1093/brain/awad074

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Local synchronicity in dopamine-rich caudate nucleus influences Huntington’s disease motor phenotype

Jan Kasper, Simon B Eickhoff, Svenja Caspers, Jessica Peter, Imis Dogan, Robert Christian Wolf, Kathrin Reetz, Juergen Dukart, Michael Orth

doi : 10.1093/brain/awad043

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Promyelinating drugs promote functional recovery in an autism spectrum disorder mouse model of Pitt–Hopkins syndrome

Joseph F Bohlen, Colin M Cleary, Debamitra Das, Srinidhi Rao Sripathy, Norah Sadowski, Gina Shim, Rakaia F Kenney, Ingrid P Buchler, Tapasree Banerji, Thomas S Scanlan, Daniel K Mulkey, Brady J Maher

doi : 10.1093/brain/awad057

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Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment

Fang Liu, Chen Liang, Zhengchang Li, Sen Zhao, Haiming Yuan, Ruen Yao, Zailong Qin, Shaofang Shangguan, Shujie Zhang, Li-Ping Zou, Qian Chen, Zhijie Gao, Suiwen Wen, Jing Peng, Fei Yin, Fei Chen, Xiaoxia Qiu, Jingsi Luo, Yingjun Xie, Dian Lu, Yu Zhang, Hua Xie, Guozhuang Li, Terry Jianguo Zhang, Pengfei Luan, Hongying Wang, Xiaodai Cui, Hailiang Huang, Ruize Liu, Xiaofang Sun, Chao Chen, Nan Wu, Jian Wang, Chunyu Liu, Yiping Shen, James F Gusella, Xiaoli Chen

doi : 10.1093/brain/awad071

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Potential drug targets for multiple sclerosis identified through Mendelian randomization analysis

Jianfeng Lin, Jiawei Zhou, Yan Xu

doi : 10.1093/brain/awad070

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GGC repeat expansion in NOTCH2NLC induces dysfunction in ribosome biogenesis and translation

Yu Fan, Meng-jie Li, Jing Yang, Shuang-jie Li, Xiao-yan Hao, Jia-di Li, Yun-chao Wang, Mi-bo Tang, Chan Zhang, Jing-jing Shi, Dong-rui Ma, Meng-nan Guo, Fen Liu, Si Shen, Da-bao Yao, Chun-yan Zuo, Cheng-yuan Mao, Zheng-wei Hu, Shuo Zhang, Zhi-hua Yang, Guang-yu Guo, Jing-hua Yang, Zong-ping Xia, Yu-ming Xu, Chang-he Shi

doi : 10.1093/brain/awad058

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Identification of novel genomic risk loci shared between common epilepsies and psychiatric disorders

Naz Karadag, Alexey A Shadrin, Kevin S O’Connell, Guy F L Hindley, Zillur Rahman, Nadine Parker, Shahram Bahrami, Vera Fominykh, Weiqiu Cheng, Børge Holen, Silje Alvestad, Erik Taubøll, Nils Eiel Steen, Srdjan Djurovic, Anders M Dale, Oleksandr Frei, Ole A Andreassen, Olav B Smeland

doi : 10.1093/brain/awad038

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Multimodal mapping of regional brain vulnerability to focal cortical dysplasia

Hyo M Lee, Seok-Jun Hong, Ravnoor Gill, Benoit Caldairou, Irene Wang, Jian-guo Zhang, Francesco Deleo, Dewi Schrader, Fabrice Bartolomei, Maxime Guye, Kyoo Ho Cho, Carmen Barba, Sanjay Sisodiya, Graeme Jackson, R Edward Hogan, Lily Wong-Kisiel, Gregory D Cascino, Andreas Schulze-Bonhage, Iscia Lopes-Cendes, Fernando Cendes, Renzo Guerrini, Boris Bernhardt, Neda Bernasconi, Andrea Bernasconi

doi : 10.1093/brain/awad060

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Blockage of STAT3 during epileptogenesis prevents GABAergic loss and imprinting of the epileptic state

Soraya Martín-Suárez, Jesús María Cortes, Paolo Bonifazi

doi : 10.1093/brain/awad055

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The radiologically isolated syndrome: revised diagnostic criteria

Christine Lebrun-Frénay, Darin T Okuda, Aksel Siva, Cassandre Landes-Chateau, Christina J Azevedo, Lydiane Mondot, Clarisse Carra-Dallière, Helene Zephir, Celine Louapre, Françoise Durand-Dubief, Emmanuelle Le Page, Caroline Bensa, Aurélie Ruet, Jonathan Ciron, David A Laplaud, Olivier Casez, Guillaume Mathey, Jerome de Seze, Burcu Zeydan, Naila Makhani, Melih Tutuncu, Michael Levraut, Mikael Cohen, Eric Thouvenot, Daniel Pelletier, Orhun H Kantarci on behalf of the RISC, SFSEP and OFSEP investigators

doi : 10.1093/brain/awad073

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Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema

Emma M J Passchier, Sven Kerst, Eelke Brouwers, Eline M C Hamilton, Quinty Bisseling, Marianna Bugiani, Quinten Waisfisz, Philip Kitchen, Lucas Unger, Marjolein Breur, Leoni Hoogterp, Sharon I de Vries, Truus E M Abbink, Maarten H P Kole, Rob Leurs, Henry F Vischer, Maria S Brignone, Elena Ambrosini, François Feillet, Alfred P Born, Leon G Epstein, Huibert D Mansvelder, Rogier Min, Marjo S van der Knaap

doi : 10.1093/brain/awad146

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MTHFD1 is critical for the negative regulation of retinoic acid receptor signalling in anencephaly

Xiaolu Xie, Chuang Li, Juan Yu, Shaoyan Chang, Xiyue Cheng, Fang Wang, Yihua Bao, Ting Zhang, Shan Wang

doi : 10.1093/brain/awad084

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Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy

Arnaud Jacquier, Julian Theuriet, Fanny Fontaine, Valentine Mosbach, Nicolas Lacoste, Shams Ribault, Valérie Risson, Julien Carras, Laurent Coudert, Thomas Simonet, Philippe Latour, Tanya Stojkovic, Juliette Piard, Anne Cosson, Gaëtan Lesca, Françoise Bouhour, Stéphane Allouche, Hélène Puccio, Antoine Pegat, Laurent Schaeffer

doi : 10.1093/brain/awac453

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Acute thalamic connectivity precedes chronic post-concussive symptoms in mild traumatic brain injury

Rebecca E Woodrow, Stefan Winzeck, Andrea I Luppi, Isaac R Kelleher-Unger, Lennart R B Spindler, J T Lindsay Wilson, Virginia F J Newcombe, Jonathan P Coles, CENTER-TBI MRI Substudy Participants and Investigators, David K Menon, Emmanuel A Stamatakis

doi : 10.1093/brain/awad056

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The spinal cord injury-induced immune deficiency syndrome: results of the SCIentinel study

Marcel A Kopp, Christian Meisel, Thomas Liebscher, Ralf Watzlawick, Paolo Cinelli, Oliver Schweizerhof, Christian Blex, Tom Lübstorf, Erik Prilipp, Andreas Niedeggen, Claudia Druschel, Klaus-Dieter Schaser, Guido A Wanner, Armin Curt, Gertraut Lindemann, Natalia Nugeva, Michael G Fehlings, Peter Vajkoczy, Mario Cabraja, Julius Dengler, Wolfgang Ertel, Axel Ekkernkamp, Kerstin Rehahn, Peter Martus, Hans-Dieter Volk, Nadine Unterwalder, Uwe Kölsch, Benedikt Brommer, Rick C Hellmann, Elias Baumgartner, Julian Hirt, Laura-Christin Geurtz, Ramin Raul Ossami Saidy, Harald Prüss, Ines Laginha, Vieri Failli, Ulrike Grittner, Ulrich Dirnagl, Jan M Schwab

doi : 10.1093/brain/awad092

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A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis

Doriana Misceo, Lisa Lirussi, Petter Strømme, Dulika Sumathipala, Andrea Guerin, Nicole I Wolf, Andres Server, Maria Stensland, Bjørn Dalhus, Aslıhan Tolun, Hester Y Kroes, Tuula A Nyman, Hilde L Nilsen, Eirik Frengen

doi : 10.1093/brain/awad086

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SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes

Daphne J Smits, Rachel Schot, Nathalie Krusy, Katja Wiegmann, Olaf Utermöhlen, Monique T Mulder, Sandra den Hoedt, Grace Yoon, Ashish R Deshwar, Christina Kresge, Beth Pletcher, Maura van Mook, Marta Serio Ferreira, Raymond A Poot, Johan A Slotman, Gert-Jan Kremers, Abeer Ahmad, Buthaina Albash, Laila Bastaki, Dana Marafi, Jordy Dekker, Tjakko J van Ham, Laurent Nguyen, Grazia M S Mancini

doi : 10.1093/brain/awad033

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Speech- and language-linked FOXP2 mutation targets protein motors in striatal neurons

Hsiao-Ying Kuo, Shih-Yun Chen, Rui-Chi Huang, Hiroshi Takahashi, Yen-Hui Lee, Hao-Yu Pang, Cheng-Hsi Wu, Ann M Graybiel, Fu-Chin Liu

doi : 10.1093/brain/awad090

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De novo mutations in CLDN5: alternating hemiplegia of childhood or not?

Eleni Panagiotakaki, Maria T Papadopoulou, Gaetan Lesca, Alexis Arzimanoglou, Mohamad A Mikati

doi : 10.1093/brain/awad053

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Reply: De novo mutations in CLDN5: alternating hemiplegia of childhood or not?

Isabelle Desguerre, Melodie Aubart, Yosuke Hashimoto, Karine Poirier, Anna Kaminska, Marianne Alison, Nathalie Boddaert, Arnold Munnich, Matthew Campbell

doi : 10.1093/brain/awad054

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Correction to: mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion

doi : 10.1093/brain/awad097

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Correction to: Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups

doi : 10.1093/brain/awad103

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Correction to: Cytotoxic T cells and plasma cells dominate early in temporal lobe epilepsy with GAD antibodies

doi : 10.1093/brain/awad106

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