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

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

ARHGAP19基因的双等位基因变异会导致进行性遗传性运动为主的神经病。

Dominik, Natalia; Efthymiou, Stephanie; Record, Christopher J; Miao, Xinyu; Lin, Renee Q; Parmar, Jevin M; Scardamaglia, Annarita; Maroofian, Reza; Lowe, Simon A; Aughey, Gabriel N; Wilson, Abigail D; Curro, Riccardo; Schnekenberg, Ricardo P; Alavi, Shahryar; Leclaire, Leif; He, Yi; Zhelcheska, Kristina; Bellaïche, Yohanns; Gaugué, Isabelle; Skorupinska, Mariola; Van de Vondel, Liedewei; Da'as, Sahar I; Turchetti, Valentina; Güngör, Serdal; Monahan, Gavin V; Ghayoor Karimiani, Ehsan; Jamshidi, Yalda; Lamont, Phillipa J; Armirola-Ricaurte, Camila; Topaloglu, Haluk; Jordanova, Albena; Zaman, Mashaya; Banu, Selina H; Marques, Wilson; Tomaselli, Pedro J; Aynekin, Busra; Cansu, Ali; Per, Huseyin; Güleç, Ayten; Alvi, Javeria Raza; Sultan, Tipu; Khan, Arif; Zifarelli, Giovanni; Ibrahim, Shahnaz; Mancini, Grazia M S; Motazacker, M M; Brusse, Esther; Lupo, Vincenzo; Sevilla, Teresa; Başak, A Nazli; Tekgul, Seyma; Palvadeau, Robin J; Baets, Jonathan; Parman, Yesim; Çakar, Arman; Horvath, Rita; Haack, Tobias B; Stahl, Jan-Hendrik; Grundmann-Hauser, Kathrin; Park, Joohyun; Zuchner, Stephan; Laing, Nigel G; Wilson, Lindsay A; Rossor, Alexander M; Polke, James; Figueiredo, Fernanda Barbosa; Pessoa, André; Kok, Fernando; Coimbra-Neto, Antônio Rodrigues; Franca, Marcondes C Jr; Ravenscroft, Gianina; Hamed, Sherifa A; Chung, Wendy K; Pittman, Alan M; Osborn, Daniel P; Hanna, Michael; Cortese, Andrea; Reilly, Mary M; Jepson, James Ec; Lamarche-Vane, Nathalie; Houlden, Henry

Involvement of the Superior Cerebellar Peduncles in GAA-FGF14 Ataxia

GAA-FGF14共济失调中小脑上脚的参与

Chen, Shihan; Ashton, Catherine; Sakalla, Rawan; Clement, Guillemette; Planel, Sophie; Bonnet, Céline; Lamont, Phillipa J; Kulanthaivelu, Karthik; Nalini, Atchayaram; Houlden, Henry; Duquette, Antoine; Dicaire, Marie-Josée; 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

Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy.

CFL2 中的新型错义变异会影响 F-肌动蛋白解聚,并扩大 CFL2 相关肌病的疾病谱

Dofash Lein N H, Folland Chiara, Dyke Jason, Farhat Emna, Chaabouni Myriam, Miladi Najoua, Needham Merrilee, Lamont Phillipa J, Ashton Catherine, Ravenscroft Gianina

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.

常见的侧翼变异与 FGF14-SCA27B 重复基因座的稳定性增强有关

Pellerin David, Del Gobbo Giulia F, Couse Madeline, Dolzhenko Egor, Nageshwaran Sathiji K, Cheung Warren A, Xu Isaac R L, Dicaire Marie-Josée, Spurdens Guinevere, Matos-Rodrigues Gabriel, Stevanovski Igor, Scriba Carolin K, Rebelo Adriana, Roth Virginie, Wandzel Marion, Bonnet Céline, 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

Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

作者更正:ABCD3基因中的CCG扩增会导致欧洲血统个体出现眼咽远端肌病。

Cortese, Andrea; Beecroft, Sarah J; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K; Dofash, Lein; Johari, Mridul; Grosz, Bianca R; Ellis, Melina; Fearnley, Liam G; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B; Storey, Elsdon; Gardner, Mac; Amor, David J; Nicholson, Garth; Vucic, Steve; Henderson, Robert D; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A; Laing, Nigel G; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G; Deveson, Ira W; Lockhart, Paul J; Lamont, Phillipa J; Fahey, Michael C; Bugiardini, Enrico; Ravenscroft, Gianina

Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations

常染色体隐性遗传VWA1相关疾病:表型变异和基因突变的综合分析

Nagy, Sara; Pagnamenta, Alistair T; Cali, Elisa; Braakman, Hilde M H; Wijntjes, Juerd; Kusters, Benno; Gotkine, Marc; Elpeleg, Orly; Meiner, Vardiella; Lenberg, Jerica; Wigby, Kristen; Friedman, Jennifer; Perry, Luke D; Rossor, Alexander M; Uhrova Meszarosova, Anna; Thomasova, Dana; Jacob, Saiju; O'Driscoll, Mary; De Simone, Lenika; Grange, Dorothy K; Sommerville, Richard; Firoozfar, Zahra; Alavi, Shahryar; Mazaheri, Mahta; Parmar, Jevin M; Lamont, Phillipa J; Pini, Veronica; Sarkozy, Anna; Muntoni, Francesco; Ravenscroft, Gianina; Jones, Eppie; O'Rourke, Declan; Nel, Melissa; Heckmann, Jeannine M; Kvalsund, Michelle; Kapapa, Musambo M; Wa Somwe, Somwe; Bearden, David R; Çakar, Arman; Childs, Anne-Marie; Horvath, Rita; Reilly, Mary M; Houlden, Henry; Maroofian, Reza

Two Novel Variants in PI4KA in a Family Presenting With Hereditary Spastic Paraparesis: A Case Report

一例家族性遗传性痉挛性截瘫患者中发现的PI4KA基因两个新变异:病例报告

Parmar, Jevin M; McNamara, Elyshia L; Lamont, Phillipa J; Kumar, Kishore R; Rick, Audrey; Stoll, Marion; Cheong, Pak Leng; Ravenscroft, Gianina

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

晚发性小脑共济失调中FGF14 GAA重复序列深部内含子扩增

Pellerin, David; Danzi, Matt C; Wilke, Carlo; Renaud, Mathilde; Fazal, Sarah; Dicaire, Marie-Josée; Scriba, Carolin K; Ashton, Catherine; Yanick, Christopher; Beijer, Danique; Rebelo, Adriana; Rocca, Clarissa; Jaunmuktane, Zane; Sonnen, Joshua A; Larivière, Roxanne; Genís, David; Molina Porcel, Laura; Choquet, Karine; Sakalla, Rawan; Provost, Sylvie; Robertson, Rebecca; Allard-Chamard, Xavier; Tétreault, Martine; Reiling, Sarah J; Nagy, Sara; Nishadham, Vikas; Purushottam, Meera; Vengalil, Seena; Bardhan, Mainak; Nalini, Atchayaram; Chen, Zhongbo; Mathieu, Jean; Massie, Rami; Chalk, Colin H; Lafontaine, Anne-Louise; Evoy, François; Rioux, Marie-France; Ragoussis, Jiannis; Boycott, Kym M; Dubé, Marie-Pierre; Duquette, Antoine; Houlden, Henry; Ravenscroft, Gianina; Laing, Nigel G; Lamont, Phillipa J; Saporta, Mario A; Schüle, Rebecca; Schöls, Ludger; La Piana, Roberta; Synofzik, Matthis; Zuchner, Stephan; Brais, Bernard

Uncovering the significance of expanded CD8(+) large granular lymphocytes in inclusion body myositis: Insights into T cell phenotype and functional alterations, and disease severity

揭示CD8(+)大颗粒淋巴细胞扩增在包涵体肌炎中的意义:深入了解T细胞表型和功能改变以及疾病严重程度

McLeish, Emily; Sooda, Anuradha; Slater, Nataliya; Kachigunda, Barbara; Beer, Kelly; Paramalingam, Shereen; Lamont, Phillipa J; Chopra, Abha; Mastaglia, Frank Louis; Needham, Merrilee; Coudert, Jerome David

Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients

脊髓小脑性共济失调27B型:34例患者的发作性症状和乙酰唑胺反应

Ashton, Catherine; Indelicato, Elisabetta; Pellerin, David; Clément, Guillemette; Danzi, Matt C; Dicaire, Marie-Josée; Bonnet, Céline; Houlden, Henry; Züchner, Stephan; Synofzik, Matthis; Lamont, Phillipa J; Renaud, Mathilde; Boesch, Sylvia; Brais, Bernard