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

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

由SORD基因突变引起的夏科-马里-图斯病的基因型和表型谱

Cortese, Andrea; Dohrn, Maike F; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J; Fernandez-Eulate, Gorka; Haddad, Saif; Laurà, Matilde; Rossor, Alexander M; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F; Achenbach, Pascal; Schöne, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D; Winter, Natalie; Creigh, Peter D; Sowden, Janet E; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K L; Brennan, Kathryn M; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R; Kennerson, Marina L; Kayserili, Hülya; Amado, Defne A; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C; Yi-Chung, Lee; Başak, Ayşe N; Hamed, Sherifa A; Rojas-Garcia, Ricardo; Claeys, Kristl G; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N; Scherer, Steven S; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M; Shy, Michael E; Züchner, Stephan

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

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.

ITPR3 中的一种复发性错义变异会导致脱髓鞘性夏科-马里-图斯病,严重程度不一

Beijer Danique, Dohrn Maike F, Rebelo Adriana, Danzi Matt C, Grosz Bianca Rose, Ellis Melina, Kumar Kishore R, Vucic Steve, Vais Horia, Weissenrieder Jillian S, Lunko Olesia, Paudel Usha, Simpson Leah C, Camarena Vladimir, Raposo Jacquelyn, Saporta Mario, Arcia Yeisha, Xu Isaac, Feely Shawna, Record Christopher J, Blake Julian, Reilly Mary M, Scherer Steven S, Kennerson Marina, Lee Yi-Chung, Foskett J Kevin, Shy Michael E, Zuchner Stephan

Advances and challenges in modeling inherited peripheral neuropathies using iPSCs

利用诱导多能干细胞构建遗传性周围神经病模型的研究进展与挑战

Van Lent, Jonas; Prior, Robert; Pérez Siles, Gonzalo; Cutrupi, Anthony N; Kennerson, Marina L; Vangansewinkel, Tim; Wolfs, Esther; Mukherjee-Clavin, Bipasha; Nevin, Zachary; Judge, Luke; Conklin, Bruce; Tyynismaa, Henna; Clark, Alex J; Bennett, David L; Van Den Bosch, Ludo; Saporta, Mario; Timmerman, Vincent

SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights

SORD缺陷大鼠出现以运动功能为主的周围神经病变,揭示了新的病理生理学见解。

Rebelo, Adriana P; Abad, Clemer; Dohrn, Maike F; Li, Jian J; Tieu, Ethan K; Medina, Jessica; Yanick, Christopher; Huang, Jingyu; Zotter, Brendan; Young, Juan I; Saporta, Mario; Scherer, Steven S; Walz, Katherina; Zuchner, Stephan

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

Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts

α-B-晶状体蛋白的突变会导致常染色体显性遗传的轴索型夏科-马里-图斯病,并伴有先天性白内障。

Cortese, Andrea; Currò, Riccardo; Ronco, Riccardo; Blake, Julian; Rossor, Alex M; Bugiardini, Enrico; Laurà, Matilde; Warner, Tom; Yousry, Tarek; Poh, Roy; Polke, James; Rebelo, Adriana; Dohrn, Maike F; Saporta, Mario; Houlden, Henry; Zuchner, Stephan; Reilly, Mary M

A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A

一项关于夏科-马里-图斯神经病1A型遗传修饰因子研究快速临床入组的研究概念

Xu, Isaac R L; Danzi, Matt C; Ruiz, Ariel; Raposo, Jacquelyn; De Jesus, Yeisha Arcia; Reilly, Mary M; Cortese, Andrea; Shy, Michael E; Scherer, Steven S; Herrmann, David N; Fridman, Vera; Baets, Jonathan; Saporta, Mario; Seyedsadjadi, Reza; Stojkovic, Tanya; Claeys, Kristl G; Patel, Pooja; Feely, Shawna; Rebelo, Adriana P; Dohrn, Maike F; Züchner, Stephan

Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy.

生成 3 株含有与隐性神经病相关的 SORD 突变的患者诱导多能干细胞系

Yanick Christopher, Maciel Renata, Jacobs Elizabeth, Schatzman Jacquelyn, Shy Michael, Zuchner Stephan, Saporta Mario