日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Genotype and Age at Onset Drive Vermis Atrophy in CACNA1A- and GAA-FGF14-related Ataxias

基因型和发病年龄驱动 CACNA1A 和 GAA-FGF14 相关共济失调中的小脑蚓部萎缩

Indelicato, Elisabetta; Nachbauer, Wolfgang; Amprosi, Matthias; Pellerin, David; Mangesius, Stephanie; Gizewski, Elke R; Kiechl, Stefan; Brais, Bernhard; Boesch, Sylvia; Krismer, Florian

A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy

TBC1D7基因中5'UTR CCG扩增导致眼咽远端肌病

Van de Vondel, Liedewei; Curro, Riccardo; Facchini, Stefano; Xu, Isaac R L; De Winter, Jonathan; Quartesan, Ilaria; Monticelli, Alice; Alonso-Jimenez, Alicia; De Ridder, Willem; Bertini, Alessandro; Alves, Gustavo; Pizzuto, Francesca; Ugolini, Hermione; Pellerin, David; De Pooter, Tim; Merve, Ashirwad; Machado, Pedro; Sagath, Lydia; Neveling, Kornelia; Hoischen, Alexander; Hanna, Michael G; Pitceathly, Robert D S; Houlden, Henry; Tucci, Arianna; Bugiardini, Enrico; Brady, Stefen; Roberts, Mark; Danzi, Matt C; Züchner, Stephan; Baets, Jonathan; Cortese, Andrea

Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum

FGF14-SCA27B GAA•TTC重复序列的体细胞不稳定性揭示了小脑中明显的扩增偏向性

Pellerin, David; Méreaux, Jean-Loup; Boluda, Susana; Danzi, Matt C; Dicaire, Marie-Josée; Davoine, Claire-Sophie; Genis, David; Spurdens, Guinevere; Ashton, Catherine; Hammond, Jillian M; Gerhart, Brandon J; Chelban, Viorica; Le, Phuong U; Safisamghabadi, Maryam; Yanick, Christopher; Lee, Hamin; Nageshwaran, Sathiji K; Matos-Rodrigues, Gabriel; Jaunmuktane, Zane; Petrecca, Kevin; Akbarian, Schahram; Nussenzweig, André; Usdin, Karen; Renaud, Mathilde; Bonnet, Céline; Ravenscroft, Gianina; Saporta, Mario A; Napierala, Jill S; Houlden, Henry; Deveson, Ira W; Napierala, Marek; Brice, Alexis; Molina Porcel, Laura; Seilhean, Danielle; Zuchner, Stephan; Durr, Alexandra; Brais, Bernard

Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy

内含子FGF14 GAA重复序列扩增影响多系统萎缩的进展和生存

Chelban, Viorica; Pellerin, David; Vijiaratnam, Nirosen; Lee, Hamin; Goh, Yen Yee; Brown, Lauren; Sambin, Sara; Seilhean, Danielle; Lehericy, Stephane; Iruzubieta, Pablo; Mohammad, Rahema; Self, Eleanor; Scardamaglia, Annarita; Lee, Cameron; Ostrozovicova, Miriama; Dicaire, Marie-Josée; Girges, Christine; Gustavsson, Emil K; Murphy, David; Curless, Toby; Laß, Joshua; Trinh, Joanne; Rittman, Timothy; Rowe, James B; Hadjivassiliou, Marios; Archibald, Neil; Danzi, Matt C; Ashton, Catherine; Roth, Virginie; Wandzel, Marion; Cheung, Warren A; Gveric, Djordje O; De Vil, Bart; Follett, Jordan; Leigh, P Nigel; Beichert, Lukas; Pastinen, Tomi; Bonnet, Céline; Renaud, Mathilde; Meissner, Wassilios G; Sieben, Anne; Crosiers, David; Cras, Patrick; Zuchner, Stephan; Corvol, Jean-Christophe; Farrer, Matthew J; Synofzik, Matthis; Brais, Bernard; Warner, Tom; Morris, Huw R; Jaunmuktane, Zane; Foltynie, Tom; Houlden, Henry

The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort

散发性成人起病退行性共济失调的遗传图谱:来自纵向多中心 SPORTAX 队列的 377 例连续患者的多模式遗传学研究

Beijer, Danique; Mengel, David; Önder, Demet; Wilke, Carlo; Traschütz, Andreas; Faber, Jennifer; Timmann, Dagmar; Boesch, Sylvia; Vielhaber, Stefan; Klopstock, Thomas; van de Warrenburg, Bart P; Silvestri, Gabriella; Kamm, Christoph; Wedding, Iselin Marie; Fleszar, Zofia; Harmuth, Florian; Dufke, Claudia; Brais, Bernard; Rieß, Olaf; Schöls, Ludger; Haack, Tobias; Züchner, Stephan; Pellerin, David; Klockgether, Thomas; Synofzik, Matthis

GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications

GAA-FGF14 扩增和 CACNA1A 变异:表型重叠和诊断意义

Indelicato, Elisabetta; Fleszar, Zofia; Pellerin, David; Nachbauer, Wolfgang; Zuchner, Stephan; Traschütz, Andreas; Amprosi, Matthias; Schöls, Ludger; Haack, Tobias B; Brais, Bernard; Boesch, Sylvia; Synofzik, Matthis

The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non-kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient

土耳其患者首例由截短型FGF14变异引起的常染色体隐性遗传性小脑共济失调伴显著阵发性非运动诱发性运动障碍病例

Türkdoğan, Dilşad; Smolina, Natalia; Tekgül, Şeyma; Gül, Tuğçe; Yeşilyurt, Ahmet; Houlden, Henry; Zuchner, Stephan; Brais, Bernard; Pellerin, David; Başak, Ayşe Nazlı

Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort

阐明SCA27B的致病阈值和表型谱:来自大型法裔加拿大队列的研究结果

Iruzubieta, Pablo; Pellerin, David; Ashton, Catherine; Villa, Felipe; Renaud, Mathilde; Dicaire, Marie-Josée; Danzi, Matt C; Aldecoa, Mayra; Mathieu, Jean; Massie, Rami; Chalk, Colin H; Lafontaine, Anne-Louise; Evoy, François; Rioux, Marie-France; Brisson, Jean-Denis; Boycott, Kym M; Houlden, Henry; Synofzik, Matthis; La Piana, Roberta; Zuchner, Stephan; Duquette, Antoine; Brais, Bernard

Clinical characteristics, cerebellar MR spectroscopy and response to 3,4-diaminopyridine in spinocerebellar ataxia 27B: the Sheffield Ataxia Centre experience

脊髓小脑性共济失调27B的临床特征、小脑磁共振波谱及对3,4-二氨基吡啶的反应:谢菲尔德共济失调中心的经验

Chukwuocha, Ikechukwu; Pellerin, David; Shanmugarajah, Priya; Tsironis, Theocharis; Foster, Emma; Hoggard, Nigel; Beauchamp, Nick; Turton, Lauren; McNeill, Alisdair; Brais, Bernard; Hadjivassiliou, Marios

The FGF14 GAA repeat expansion is a major cause of ataxia in the Cypriot population

FGF14 GAA重复序列扩增是塞浦路斯人群共济失调的主要原因之一

Livanos, Ioannis; Votsi, Christina; Michailidou, Kyriaki; Pellerin, David; Brais, Bernard; Zuchner, Stephan; Pantzaris, Marios; Kleopa, Kleopas A; Zamba Papanicolaou, Eleni; Christodoulou, Kyproula