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

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

Customized antisense oligonucleotide-based therapy for neurofilament-associated Charcot-Marie-Tooth disease.

针对神经丝相关夏科-马里-图斯病的定制化反义寡核苷酸疗法

Medina Jessica, Rebelo Adriana, Danzi Matt C, Jacobs Elizabeth H, Xu Isaac R L, Ahrens Kathleen P, Chen Sitong, Raposo Jacquelyn, Yanick Christopher, Zuchner Stephan, Saporta Mario A

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

反复出现的纯合ACTN2变异(p.Arg506Gly)会导致隐性遗传性肌病。

Donkervoort, Sandra; Mohassel, Payam; O'Leary, Melanie; Bonner, Devon E; Hartley, Taila; Acquaye, Nicole; Brull, Astrid; Mozaffar, Tahseen; Saporta, Mario A; Dyment, David A; Sampson, Jacinda B; Pajusalu, Sander; Austin-Tse, Christina; Hurth, Kyle; Cohen, Julie S; McWalter, Kirsty; Warman-Chardon, Jodi; Crunk, Amy; Foley, A Reghan; Mammen, Andrew L; Wheeler, Matthew T; O'Donnell-Luria, Anne; Bönnemann, Carsten G

Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 gene.

从携带 MTMR5/Sbf1 基因突变的 Charcot-Marie-Tooth 病 4B3 型患者中建立和鉴定了 3 株人类多能干细胞系

Jacobs Elizabeth H, Schatzman Raposo Jacquelyn, Scardamaglia Annarita, Alkuraya Fowzan S, Nafissi Shahriar, Houlden Henry, Zuchner Stephan, Saporta Mario A

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

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

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants

由GJB1变异引起的夏科-马里-图斯病CMTX1的遗传分析和自然史

Record, Christopher J; Skorupinska, Mariola; Laura, Matilde; Rossor, Alexander M; Pareyson, Davide; Pisciotta, Chiara; Feely, Shawna M E; Lloyd, Thomas E; Horvath, Rita; Sadjadi, Reza; Herrmann, David N; Li, Jun; Walk, David; Yum, Sabrina W; Lewis, Richard A; Day, John; Burns, Joshua; Finkel, Richard S; Saporta, Mario A; Ramchandren, Sindhu; Weiss, Michael D; Acsadi, Gyula; Fridman, Vera; Muntoni, Francesco; Poh, Roy; Polke, James M; Zuchner, Stephan; Shy, Michael E; Scherer, Steven S; Reilly, Mary M

Mechanisms and Treatments in Demyelinating CMT

脱髓鞘性 CMT 的机制和治疗

Fridman, Vera; Saporta, Mario A

Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development

夏科-马里-图斯神经病治疗研发建模面临的挑战

Juneja, Manisha; Burns, Joshua; Saporta, Mario A; Timmerman, Vincent

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

夏科-马里-图斯病1A型修饰基因候选者:一项仅包含病例的全基因组关联研究

Tao, Feifei; Beecham, Gary W; Rebelo, Adriana P; Blanton, Susan H; Moran, John J; Lopez-Anido, Camila; Svaren, John; Abreu, Lisa; Rizzo, Devon; Kirk, Callyn A; Wu, Xingyao; Feely, Shawna; Verhamme, Camiel; Saporta, Mario A; Herrmann, David N; Day, John W; Sumner, Charlotte J; Lloyd, Thomas E; Li, Jun; Yum, Sabrina W; Taroni, Franco; Baas, Frank; Choi, Byung-Ok; Pareyson, Davide; Scherer, Steven S; Reilly, Mary M; Shy, Michael E; Züchner, Stephan