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

Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants

由SLC12A6变异引起的显性夏科-马里-图斯病谱

Record, Christopher J; Grider, Tiffany; Rebelo, Adriana P; Laurini, Christian; Skorupinska, Mariola; Danzi, Matt C; Poh, Roy; Tomaselli, Pedro J; Frezatti, Rodrigo S; Dominik, Natalia; Grosz, Bianca; Ellis, Melina; Kumar, Kishore R; Harms, Matthew B; Weihl, Conrad C; Marques Júnior, Wilson; Claeys, Kristl G; Blake, Julian C; Holt, James Kl; Weber, Astrid; Jacobson, Ryan; Dineen, Richard T; Falzone, Yuri M; Previtali, Stefano C; Menezes, Manoj P; Vucic, Steve; Laura, Matilde; Kennerson, Marina L; Shy, Michael E; Zuchner, Stephan; Reilly, Mary M

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

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

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort

利用全基因组方法在未确诊疾病网络队列中发现新的重复序列扩增疾病

Fazal, Sarah; Dashnow, Harriet; Dohrn, Maike F; Raposo, Jacquelyn; Hiatt, Laurel; Danzi, Matt C; Xu, Isaac R L; Toro, Camilo; Adams, David R; Usdin, Karen; Hayward, Bruce; Kobren, Shilpa Nadimpalli; Sunyaev, Shamil R; Spillmann, Rebecca C; Shashi, Vandana; Rebelo, Adriana; Bademci, Guney; Tekin, Mustafa; Quinlan, Aaron R; Zuchner, Stephan

FIC Domain Protein Adenylyltransferase (FICD)-Related Complex Hereditary Spastic Paraplegia with Diabetes Mellitus

FIC结构域蛋白腺苷酰转移酶(FICD)相关复合物遗传性痉挛性截瘫伴糖尿病

Rebelo, Adriana P; Alawwadh, Adel; Hakami, Ali; Viric, Vanja; Alshahrani, Saeed; Brankovic, Marija; Stevic, Zorica; Zuchner, Stephan; Al-Shehri, Abdulaziz; Peric, Stojan

Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability

基因假基因倒位是缺失遗传力的一个隐蔽来源

Quartesan, Ilaria; Facchini, Stefano; Manini, Arianna; Schnekenberg, Ricardo Parolin; Pisciotta, Chiara; Magri, Stefania; Negri, Sara; Gaetano, Carlo; Rebelo, Adriana; Raposo, Jacquelyn Schatzman; Mazanec, Radim; Curro, Riccardo; Dominik, Natalia; Efthymiou, Stephanie; Laurà, Matilde; Grider, Tiffany; Feely, Shawna Me; Fridman, Vera; Bertini, Alessandro; Alves, Gustavo Maximiano; Ferullo, Lucia; Ghia, Arianna; Caccia, Claudio; Balistreri, Francesca; Saveri, Paola; Crivellari, Luca; Moroni, Isabella; Danti, Federica Rachele; Mongini, Tiziana; Taroni, Franco; Auer-Grumbach, Michaela; Bugiardini, Enrico; Sleigh, James N; Tucci, Arianna; Houlden, Henry; Laššuthová, Petra; Seeman, Pavel; Basile, Anna; Giorgio, Elisa; Shy, Michael E; Zuchner, Stephan; Reilly, Mary M; Pareyson, Davide; Cortese, Andrea

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

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

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

NOTCH3基因双等位基因变异的临床和神经放射学表现谱

Iruzubieta, Pablo; Alves, César Augusto Pinheiro Ferreira; Al Shamsi, Aisha M; ElGhazali, Gehad; Zaki, Maha S; Pinelli, Lorenzo; Lopergolo, Diego; Cho, Bernard P H; Jolly, Amy A; Al Futaisi, Amna; Al-Amrani, Fatema; Galli, Jessica; Fazzi, Elisa; Vulin, Katarina; Barajas-Olmos, Francisco; Hengel, Holger; Aljamal, Bayan Mohammed; Nasr, Vahideh; Assarzadegan, Farhad; Ragno, Michele; Trojano, Luigi; Ojeda, Naomi Meave; Çakar, Arman; Bianchi, Silvia; Pescini, Francesca; Poggesi, Anna; Al Tenalji, Amal; Aziz, Majid; Mohammad, Rahema; Chedrawi, Aziza; De Stefano, Nicola; Zifarelli, Giovanni; Schöls, Ludger; Haack, Tobias B; Rebelo, Adriana; Zuchner, Stephan; Koc, Filiz; Griffiths, Lyn R; Orozco, Lorena; Helmes, Karla García; Babaei, Meisam; Bauer, Peter; Chan Jeong, Won; Karimiani, Ehsan Ghayoor; Schmidts, Miriam; Gleeson, Joseph G; Chung, Wendy K; Alkuraya, Fowzan Sami; Shalbafan, Bita; Markus, Hugh S; Houlden, Henry; Maroofian, Reza