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B

Bernard Brais

centre intégré universitaire de santé et de services sociaux du saguenay-lac-st-jean

52H指数
360论文数
9.9K被引数
收录论文 126
发表时间
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Muscle Strength, Balance, and Indoor Mobility in Oculopharyngeal Muscular Dystrophy: An Exploratory Canadian Multicenter Study眼咽肌营养不良症患者的肌肉力量、平衡能力和室内活动能力：一项探索性加拿大多中心研究
errMUSCLE & NERVE
IF3.1
err2026-09-13
err0
errOAAI
errNicolas Bélair; Jean-Denis Brisson; Bernard Brais; Xavier Rodrigue; Hanns Lochmüller; Luc J. Hébert; Jessica MacGregor; Brenda Dennison; Isabelle Lessard; Isabelle Côté; Elise Duchesne; Cynthia Gagnon
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Identification of FGF14 GAA Expansions in Polish Patients with Undiagnosed Cerebellar Ataxia – A Preliminary Study波兰未诊断小脑共济失调患者中FGF14 GAA重复扩增的鉴定——一项初步研究
errThe Cerebellum
IF0
err2026-05-07
err0
errOAAI
errMarta Matlawska; Karolina Ziora-Jakutowicz; Marie- Josee Dicaire; Joanna Pera; David Pellerin; Bernard Brais; Pablo Iruzubieta; Ewelina Elert- Dobkowska; Anna Sulek
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Toward a Neuroimaging Consensus for the Work-up of Adult Genetic Leukoencephalopathies on Behalf of the White Matter Rounds Network: State of Practice代表白质病例讨论网络，针对成人遗传性脑白质病变的影像学检查达成共识：实践现状
errAmerican Journal of Neuroradiology
IF3.7
err2026-05-01
err0
PREAI
errWong, Alexander D.; Airas, Laura; Alvarez, Enrique; Antel, Jack; Araujo, David; Bernard, Genevieve; Boudjani, Hayet; Brais, Bernard; Cocozza, Sirio; Corboy, John R.; Fadda, Giulia; Imitola, Jaime; Lacasse, Marie-Constance; Longbrake, Erin E.; Macaron, Gabrielle; Narayanan, Sridar; Orthmann-Murphy, Jennifer; Ortiz, Johanna; Shor, Natalia; Uggetti, Carla; Venkateswaran, Sunita; Wilson, Nagwa; Miller, Elka; La Piana, Roberta
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The Cerebellar Cognitive-Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Large International Cross-Sectional Study小脑认知-情感综合征量表揭示了常染色体隐性遗传的夏尔波瓦-萨甘脊髓小脑共济失调中一致、早期和进行性的神经心理学缺陷：一项大型国际横断面研究
errMovement Disorders
IF7.6
err2026-02-11
err0
errOAAI
errJulie Fortin PhD; Matthis Synofzik MD; Élyse-Anne Pedneault-Tremblay OT; Dominik Hermle; Andreas Thieme MD; Dagmar Timmann MD; Roberta La Piana MD, PhD; Bernard Brais MD, PhD; Justine Dolbec MS; Isabelle Côté MS; Cynthia Gagnon OT, PhD; Andreas Traschütz MD, PhD
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Long-term response to aminopyridines in a cohort of patients with ataxia associated with downbeat nystagmus due to the FGF14 GAA expansionFGF14 GAA扩展导致的下跳眼震共济失调患者队列对氨基吡啶的长期反应
errNeurología
IF3.1
err2025-10-10
err0
errOAAI
errE. Muñoz; M. De la Cruz-Puebla; D. Pellerin; C. Painous; M.I. Álvarez-Mora; M.J. Dicaire; L. Rodríguez-Revenga; M.C. Danzi; S. Zuchner; B. Brais
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Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia痉挛性共济失调复合量表 (SPAXCOM)：用于评估具有痉挛和共济失调特征的受试者病情进展的量表
errMovement Disorders
IF7.6
err2025-08-20
err0
errOAAI
errCécile Di Folco MsC; Charlotte Dubec-Fleury MsC; Andreas Traschütz MD, PhD; Christoph Kessler MD; Selina Reich MsC; Cynthia Gagnon PhD; Isabelle Lessard MsC; Xavier Rodrigue MD; Sirio Cocozza MD, PhD; Sara Satolli MD; Filippo M. Santorelli MD; Alexandra Durr MD, PhD; Anna Heinzmann MD; Bart P. van de Warrenburg MD; Ilse H.J. Willemse MsC; A. Nazli Başak MD; Atay Vural MD; Bernard Brais MD; Stephan Klebe MD; Rita Horvath MD, PhD; PROSPAX Consortium; Rebecca Schüle MD; Matthis Synofzik MD, PhD; Sophie Tezenas du Montcel MD, PhD
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Expanding the clinical–radiological phenotype of SCA34 and its role in the differential diagnosis of the hot cross bun sign扩展SCA34的临床-放射学表型及其在热十字面包征鉴别诊断中的作用
errJournal of Neurology
IF4.6
err2025-08-11
err0
PREAI
errGonzalo Olmedo-Saura; Pablo Iruzubieta; Sara Bernal; Lidia Gonzalez-Quereda; Claustre Pont-Sunyer; Irene Navalpotro-Gómez; Daniel Guisado-Alonso; Carmen García-Sanchez; Benjamin Rodriguez-Santiago; Bernard Brais; Javier Pagonabarraga; Jaime Kulisevsky; Jesús Pérez-Pérez
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The Two Faces of Pediatric SCA2SCA2儿科的两种面相
errEuropean Journal of Neurology
IF3.9
err2025-07-31
err0
errOAAI
errNicolas Rive Le Gouard; Maissa G. Bah; Giulia Coarelli; Anna Heinzmann; Anne-Laure Fauret; Jean-Madeleine de Sainte-Agathe; Cécile Cazeneuve; Anna Gerasimenko; Domitille Gras; Yline Capri; Mathilde Renaud; Bernard Brais; Cecile Grenenko; Alice Masurel; Patrick Berquin; Florence Jobic; Julia Métreau; Kumaran Deiva; Alexandra Afenjar; Victor Gravrand; Annie Lannuzel; Mathieu Anheim; Tobias Geis; Ute Hehr; Jennifer Madan Cohen; Béatrice Desnous; Anneke J. A. Kievit; Nadia Bahi-buisson; Diana Rodriguez; Florence Renaldo; Claude Cances; David Devos; Chloé Angelini; Cyril Goizet; Claire Ewenczyk; Alexandra Durr; Cyril Mignot
err分享
err收藏
FGF14 (GAA∙TTC) repeat expansion-related ataxia SCA27B is common in Northern FinlandFGF14 (GAA•TTC)重复扩展相关的共济失调SCA27B在芬兰北部较为常见。
errParkinsonism & Related Disorders
IF3.4
err2025-07-03
err0
errOAAI
errLaura Kytövuori; David Pellerin; Mikko Kärppä; Jussi O.T. Sipilä; Marie-Josée Dicaire; Pablo Iruzubieta; Bernard Brais; Kari Majamaa
err分享
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Selection of Clinical Outcome Assessments for Trial Readiness in ARSACS-2-year Progression and Responsiveness to Change Part 2: Mobility, Balance, and Lower Limb Coordination选择ARSACS临床结局评估用于试验准备：2年进展与变化反应性研究 第2部分： Mobility, Balance, and Lower Limb Coordination
errCEREBELLUM
IF2.4
err2025-05-07
err0
PREAI
errLessard, Isabelle; Duchesne, Elise; Hebert, Luc J.; Brais, Bernard; Rodrigue, Xavier; Routhier, Francois; Best, Krista; Brisson, Jean-Denis; Thullier, Florentin; Gaboury, Sebastien; Cote, Isabelle; Gagnon, Cynthia
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Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophyChelban, V.; Pellerin, D.; Vijiaratnam, N.; Lee, H.; Goh, Y.Y.; Brown, L.; Sambin, S.; Seilhean, D.; Lehericy, S.; Iruzubieta, P.; 等. 内含子FGF14 GAA重复扩展影响多系统萎缩的进展和生存。Brain 2025, 148, 3252–3265. [Google Scholar] [CrossRef]
errBrain
IF11.7
err2025-04-16
err0
errOAAI
errViorica Chelban; David Pellerin; Nirosen Vijiaratnam; Hamin Lee; Yen Yee Goh; Lauren Brown; Sara Sambin; Danielle Seilhean; Stephane Lehericy; Pablo Iruzubieta; Rahema Mohammad; Eleanor Self; Annarita Scardamaglia; Cameron Lee; Miriama Ostrozovicova; Marie-Josée Dicaire; Christine Girges; Emil K Gustavsson; David Murphy; Toby Curless; Joshua Laß; Joanne Trinh; Timothy Rittman; James B Rowe; Marios Hadjivassiliou; Neil Archibald; Matt C Danzi; Catherine Ashton; Virginie Roth; Marion Wandzel; Warren A Cheung; Djordje O Gveric; Bart De Vil; Jordan Follett; P Nigel Leigh; Lukas Beichert; Tomi Pastinen; Céline Bonnet; Mathilde Renaud; Wassilios G Meissner; Anne Sieben; David Crosiers; Patrick Cras; Stephan Zuchner; Jean-Christophe Corvol; Matthew J Farrer; Matthis Synofzik; Bernard Brais; Tom Warner; Huw R Morris; Zane Jaunmuktane; Tom Foltynie; Henry Houlden
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Involvement of the Superior Cerebellar Peduncles in GAA-FGF14 Ataxia
errNEUROLOGY-GENETICS
IF3.7
err2025-04-01
err1
errOAAI
errChen, Shihan; Ashton, Catherine; Sakalla, Rawan; Clement, Guillemette; Planel, Sophie; Bonnet, Celine; Lamont, Phillipa J.; Kulanthaivelu, Karthik; Nalini, Atchayaram; Houlden, Henry; Duquette, Antoine; Dicaire, Marie-Josee; Iruzubieta Agudo, Pablo; Ruiz-Martinez, Javier; Marco De Lucas, Enrique; Sutil Berjon, Rodrigo; Infante Ceberio, Jon; Indelicato, Elisabetta; Boesch, Sylvia M.; Synofzik, Matthis; Bender, Benjamin; Danzi, Matt C.; Zuchner, Stephan; Pellerin, David; Brais, Bernard; Renaud, Mathilde; La Piana, Roberta
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Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients迟发性前庭小脑共济失调：50例患者长期随访系列的临床和遗传学研究
errJOURNAL OF NEUROLOGY
IF4.6
err2025-03-01
err0
PREAI
errGenis, David; Alemany, Berta; Pellerin, David; Brais, Bernard; Dicaire, Marie-Josee; Volpini, Victor; Campos, Berta; Corral, Jordi; Gardenyes, Josep; de Jorge, Laura; San Nicolas, Hector; Buxo, Maria; Sancho, Joan Martinez; Obon, Maria; Roig, Carles; Rodriguez-Revenga, Laia; Alvarez-Mora, Maria Isabel; Danzi, Matt C.; Houlden, Henry; Zuchner, Stephan; Marquez, Fabian; Torrenta, Lluis
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The FGF14 GAA repeat expansion is a major cause of ataxia in the Cypriot populationFGF14 GAA重复扩增是塞浦路斯人口共济失调的主要原因
errBRAIN COMMUNICATIONS
IF4.5
err2025-01-03
err0
errOAAI
errLivanos, Ioannis; Votsi, Christina; Michailidou, Kyriaki; Pellerin, David; Brais, Bernard; Zuchner, Stephan; Pantzaris, Marios; Kleopa, Kleopas A.; Papanicolaou, Eleni Zamba; Christodoulou, Kyproula
err分享
err收藏
Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithms
errJOURNAL OF THE NEUROLOGICAL SCIENCES
IF3.2
err2024-12-01
err0
PREAI
errKoutsis, Georgios; Kartanou, Chrisoula; Kontogeorgiou, Zoi; Koniari, Chrysoula; Mitrousias, Alexandros; Pellerin, David; Dicaire, Marie-Jose; Iruzubieta, Pablo; Danzi, Matt C.; Athanassopoulos, Konstantinos; Ragazos, Nikolaos; Stamelou, Maria; Rentzos, Michail; Anagnostou, Evangelos; Zuchner, Stephan; Brais, Bernard; Houlden, Henry; Panas, Marios; Stefanis, Leonidas; Karadima, Georgia
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err收藏
Assessment of the Clinical Interactions of GAA Repeat Expansions in FGF14 and FXN
errNEUROLOGY-GENETICS
IF3.7
err2024-12-01
err1
PREAI
errGerhart, Brandon J.; Pellerin, David; Danzi, Matt C.; Zuchner, Stephan; Brais, Bernard; Matos-Rodrigues, Gabriel; Nussenzweig, Andre; Usdin, Karen; Park, Courtney C.; Napierala, Jill S.; Lynch, David R.; Napierala, Marek
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Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B)脊髓小脑性共济失调 (SCA27B) 的大型美国队列的临床，放射学和病理学特征
errANNALS OF NEUROLOGY
IF7.7
err2024-09-12
err4
errOAAI
errAbou Chaar, Widad; Eranki, Anirudh N.; Stevens, Hannah A.; Watson, Sonya L.; Wong, Darice Y.; Avila, Veronica S.; Delfeld, Megan; Gary, Alexander J.; Tawde, Sanjukta; Triebold, Malia; Cherchi, Marcello; Xie, Tao; Lockhart, Paul J.; Bahlo, Melanie; Pellerin, David; Dicaire, Marie-Josee; Danzi, Matt; Zuchner, Stephan; Brais, Bernard C.; Perlman, Susan; Burmeister, Margit; Paulson, Henry; Srinivasan, Sharan; Schut, Lawrence; Bower, Matthew; Bushara, Khalaf; Liao, Chuanhong; Shakkottai, Vikram G.; Collins, John; Clark, H. Brent; Das, Soma; Fogel, Brent L.; Gomez, Christopher M.
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Reduced Age-Dependent Penetrance of a Large FGF14 GAA Repeat Expansion in a 74-Year-Old Woman from a German Family with SCA27B
errMOVEMENT DISORDERS
IF7.6
err2024-07-01
err0
errOAAI
errPellerin, David; Seemann, Jens; Traschuetz, Andreas; Brais, Bernard; Ilg, Winfried; Synofzik, Matthis
err分享
err收藏
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus一个常见的侧翼变异与FGF14-SCA27B重复基因座的稳定性增强有关
errNATURE GENETICS
IF31.8
err2024-06-27
err2
PREAI
errPellerin, David; Del Gobbo, Giulia F.; Couse, Madeline; Dolzhenko, Egor; Nageshwaran, Sathiji K.; Cheung, Warren A.; Xu, Isaac R. L.; Dicaire, Marie-Josee; Spurdens, Guinevere; Matos-Rodrigues, Gabriel; Stevanovski, Igor; Scriba, Carolin K.; Rebelo, Adriana; Roth, Virginie; Wandzel, Marion; Bonnet, Celine; Ashton, Catherine; Agarwal, Aman; Peter, Cyril; Hasson, Dan; Tsankova, Nadejda M.; Dewar, Ken; Lamont, Phillipa J.; Laing, Nigel G.; Renaud, Mathilde; Houlden, Henry; Synofzik, Matthis; Usdin, Karen; Nussenzweig, Andre; Napierala, Marek; Chen, Zhao; Jiang, Hong; Deveson, Ira W.; Ravenscroft, Gianina; Akbarian, Schahram; Eberle, Michael A.; Boycott, Kym M.; Pastinen, Tomi; Brais, Bernard; Zuchner, Stephan; Danzi, Matt C.
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GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort
errEBIOMEDICINE
IF10.8
err2024-04-01
err9
errOAAI
errPellerin, David; Heindl, Felix; Wilke, Carlo; Danzi, Matt C.; Traschuetz, Andreas; Ashton, Catherine; Dicaire, Marie-Josee; Cuillerier, Alexanne; Del Gobbo, Giulia; Boycott, Kym M.; Claassen, Jens; Rujescu, Dan; Hartmann, Annette M.; Zuchner, Stephan; Brais, Bernard; Strupp, Michael; Synofzik, Matthis
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研究方向

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合作学者
合作期刊
J
John R. Yates
H 指数: 188 · 论文数: 1.5K
A
Alexis Brice
H 指数: 153 · 论文数: 1.2K
G
Guy A. Rouleau
H 指数: 146 · 论文数: 1.3K
M
Mark A. Tarnopolsky
H 指数: 129 · 论文数: 889
J
J. Beckmann
H 指数: 123 · 论文数: 883
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