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

Preclinical assessment of checkpoint blockade combined with DNA methyltransferase inhibition in high-risk pediatric brain tumors reveals limited therapeutic synergy

对高危儿童脑肿瘤患者进行检查点阻断联合DNA甲基转移酶抑制剂的临床前评估显示,其治疗协同作用有限。

Mishra, Deepak Kumar; Morris, Shelli M; Popovski, Dean; Girard, Emily J; Bondoc, Andrew; Senthil Kumar, Shiva; Andrade, Augusto Faria; Zhu, Xiaoting; Yao, Fupan; Brusniak, Mi-Youn; Umaru, Banlanjo; Crotty, Erin E; Brasel, Ken; Pakiam, Fiona; Russo, Caterina; Zeinieh, Michele; Biery, Matt C; Coxon, Margo; Conti, Heather; Clarke, Midori; Lu, Mei; Rutka, James; Llivichuzhca-Loja, Dhana; Konnikova, Liza; Fouladi, Maryam; Jabado, Nada; Huang, Annie; Olson, James M; Drissi, Rachid

Open-ended molecular recording of sequential cellular events into DNA.

将连续的细胞事件以开放式分子方式记录到 DNA 中

Loveless Theresa B, Carlson Courtney K, Dentzel Helmy Catalina A, Hu Vincent J, Ross Sara K, Demelo Matt C, Murtaza Ali, Liang Guohao, Ficht Michelle, Singhai Arushi, Pajoh-Casco Marcello J, Liu Chang C

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

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

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

Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia

全基因组测序在遗传性小脑共济失调诊断中的应用价值和局限性

Yau, Wai Yan; Sullivan, Roisin; O'Connor, Emer; Pellerin, David; Parkinson, Michael H; Giunti, Paola; Dicaire, Marie-Josée; Danzi, Matt C; Züchner, Stephan; Brais, Bernard; Wood, Nicholas W; Houlden, Henry; Vandrovcova, Jana

Data Parameters From Participatory Surveillance Systems in Human, Animal, and Environmental Health From Around the Globe: Descriptive Analysis

来自全球人类、动物和环境健康参与式监测系统的数据参数:描述性分析

McNeil, Carrie; Divi, Nomita; Bargeron Iv, Charles Thomas; Capobianco Dondona, Andrea; Ernst, Kacey C; Gupta, Angela S; Fasominu, Olukayode; Keatts, Lucy; Kelly, Terra; Leal Neto, Onicio B; Lwin, May O; Makhasi, Mvuyo; Mutagahywa, Eric Beda; Montecino-Latorre, Diego; Olson, Sarah; Pandit, Pranav S; Paolotti, Daniela; Parker, Matt C; Samad, Muhammad Haiman; Sewalk, Kara; Sheldenkar, Anita; Srikitjakarn, Lertrak; Suy Lan, Channé; Wilkes, Michael; Yano, Terdsak; Smolinski, Mark