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

Adeno-Associated Virus Gene Therapy Development: Early Planning and Regulatory Considerations to Advance the Platform Vector Gene Therapy Program

腺相关病毒基因治疗开发:推进平台载体基因治疗项目的早期规划和监管考量

Lomash, Richa Madan; Dehdashti, Jean; Shchelochkov, Oleg A; Chandler, Randy J; Li, Lina; Manoli, Irini; Sloan, Jennifer L; Terse, Pramod; Xu, Xin; Saade, Dimah; Stan, Rodica; Brooks, Philip J; Lo, Donald C; Bönnemann, Carsten G; Venditti, Charles P; Pariser, Anne R; Ottinger, Elizabeth A

Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.

由双等位基因 COL12A1 变异引起的 XII 型胶原蛋白相关疾病的临床特征

McCarty Riley M, Saade Dimah, Munot Pinki, Laverty Chamindra G, Pinz Hailey, Zou Yaqun, McAnally Meghan, Yun Pomi, Tian Cuixia, Hu Ying, Feng Lucy, Phadke Rahul, Ceulemans Sophia, Magoulas Pilar, Skalsky Andrew J, Friedman Jennifer R, Braddock Stephen R, Neuhaus Sarah B, Malicki Denise M, Bainbridge Matthew N, Nahas Shareef, Dimmock David P, Kingsmore Stephen F, Lotze Timothy E, Foley A Reghan, Muntoni Francesco, Straub Volker, Donkervoort Sandra, Bönnemann Carsten G

T2 Hyperintensities in Gracile Tracts of Cervical Spinal Cord in Giant Axonal Neuropathy (GAN)

巨轴索神经病(GAN)中颈髓薄束的T2高信号

Armao, Diane; Bouldin, Thomas W; Bharucha-Goebel, Diana X; Hartman, Terry S; Gray, Steven J; Bailey, Rachel M; Saade, Dimah; Todd, Joshua J; Jain, Minal; Waite, Melissa; Bönnemann, Carsten G; Smith, J Keith

A Severe Reaction After Phototherapy in a Neonate With X-Linked Protoporphyria

一名患有X连锁原卟啉症的新生儿在光疗后出现严重反应

Sandgren, Jeremy A; Tung, Moon Ley; Berrebi, Kristen G; Saade, Dimah N; Bermick, Jennifer R; Lee, Stephanie S; Stanford, Amy H

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

复发性深内含子假外显子诱导变异 COL6A1 c.930+189C>T 导致 COL6 相关营养不良症的持续严重表型:朝着剪接调节疗法的临床试验准备迈进

Foley A Reghan, Bolduc Véronique, Guirguis Fady, Donkervoort Sandra, Hu Ying, Orbach Rotem, McCarty Riley M, Sarathy Apurva, Norato Gina, Cummings Beryl B, Lek Monkol, Sarkozy Anna, Butterfield Russell J, Kirschner Janbernd, Nascimento Andrés, Benito Daniel Natera-de, Quijano-Roy Susana, Stojkovic Tanya, Merlini Luciano, Comi Giacomo, Ryan Monique, McDonald Denise, Munot Pinki, Yoon Grace, Leung Edward, Finanger Erika, Leach Meganne E, Collins James, Tian Cuixia, Mohassel Payam, Neuhaus Sarah B, Saade Dimah, Cocanougher Benjamin T, Chu Mary-Lynn, Scavina Mena, Grosmann Carla, Richardson Randal, Kossak Brian D, Gospe Sidney M Jr, Bhise Vikram, Taurina Gita, Lace Baiba, Troncoso Monica, Shohat Mordechai, Shalata Adel, Chan Sophelia H S, Jokela Manu, Palmio Johanna, Haliloğlu Göknur, Jou Cristina, Gartioux Corine, Solomon-Degefa Herimela, Freiburg Carolin D, Schiavinato Alvise, Zhou Haiyan, Aguti Sara, Nevo Yoram, Nishino Ichizo, Jimenez-Mallebrera Cecilia, Lamandé Shireen R, Allamand Valérie, Gualandi Francesca, Ferlini Alessandra, MacArthur Daniel G, Wilton Steve D, Wagener Raimund, Bertini Enrico, Muntoni Francesco, Bönnemann Carsten G

PIEZO2 and perineal mechanosensation are essential for sexual function

PIEZO2 和会阴机械感觉对性功能至关重要

Lam, Ruby M; von Buchholtz, Lars J; Falgairolle, Melanie; Osborne, Jennifer; Frangos, Eleni; Servin-Vences, M Rocio; Nagel, Maximilian; Nguyen, Minh Q; Jayabalan, Monessha; Saade, Dimah; Patapoutian, Ardem; Bönnemann, Carsten G; Ryba, Nicholas J P; Chesler, Alexander T

PIEZO2 in somatosensory neurons controls gastrointestinal transit.

体感神经元中的 PIEZO2 控制胃肠道转运

Servin-Vences M Rocio, Lam Ruby M, Koolen Alize, Wang Yu, Saade Dimah N, Loud Meaghan, Kacmaz Halil, Frausto Suzanne, Zhang Yunxiao, Beyder Arthur, Marshall Kara L, Bönnemann Carsten G, Chesler Alexander T, Patapoutian Ardem

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

HMGCR基因的双等位基因变异会导致常染色体隐性遗传的进行性肢带型肌营养不良症。

Morales-Rosado, Joel A; Schwab, Tanya L; Macklin-Mantia, Sarah K; Foley, A Reghan; Pinto E Vairo, Filippo; Pehlivan, Davut; Donkervoort, Sandra; Rosenfeld, Jill A; Boyum, Grace E; Hu, Ying; Cong, Anh T Q; Lotze, Timothy E; Mohila, Carrie A; Saade, Dimah; Bharucha-Goebel, Diana; Chao, Katherine R; Grunseich, Christopher; Bruels, Christine C; Littel, Hannah R; Estrella, Elicia A; Pais, Lynn; Kang, Peter B; Zimmermann, Michael T; Lupski, James R; Lee, Brendan; Schellenberg, Matthew J; Clark, Karl J; Wierenga, Klaas J; Bönnemann, Carsten G; Klee, Eric W

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

视黄酸受体β亚基功能紊乱相关的临床和功能异质性

Caron, Véronique; Chassaing, Nicolas; Ragge, Nicola; Boschann, Felix; Ngu, Angelina My-Hoa; Meloche, Elisabeth; Chorfi, Sarah; Lakhani, Saquib A; Ji, Weizhen; Steiner, Laurie; Marcadier, Julien; Jansen, Philip R; van de Pol, Laura A; van Hagen, Johanna M; Russi, Alvaro Serrano; Le Guyader, Gwenaël; Nordenskjöld, Magnus; Nordgren, Ann; Anderlid, Britt-Marie; Plaisancié, Julie; Stoltenburg, Corinna; Horn, Denise; Drenckhahn, Anne; Hamdan, Fadi F; Lefebvre, Mathilde; Attie-Bitach, Tania; Forey, Peggy; Smirnov, Vasily; Ernould, Françoise; Jacquemont, Marie-Line; Grotto, Sarah; Alcantud, Alberto; Coret, Alicia; Ferrer-Avargues, Rosario; Srivastava, Siddharth; Vincent-Delorme, Catherine; Romoser, Shelby; Safina, Nicole; Saade, Dimah; Lupski, James R; Calame, Daniel G; Geneviève, David; Chatron, Nicolas; Schluth-Bolard, Caroline; Myers, Kenneth A; Dobyns, William B; Calvas, Patrick; Salmon, Caroline; Holt, Richard; Elmslie, Frances; Allaire, Marc; Prigozhin, Daniil M; Tremblay, André; Michaud, Jacques L

PIEZO2-dependent rapid pain system in humans and mice

人类和小鼠中 PIEZO2 依赖性快速疼痛系统

Bouchatta, Otmane; Brodzki, Marek; Manouze, Houria; Carballo, Gabriela B; Kindström, Emma; de-Faria, Felipe M; Yu, Huasheng; Kao, Anika R; Thorell, Oumie; Liljencrantz, Jaquette; Ng, Kevin K W; Frangos, Eleni; Ragnemalm, Bengt; Saade, Dimah; Bharucha-Goebel, Diana; Szczot, Ilona; Moore, Warren; Terejko, Katarzyna; Cole, Jonathan; Bonnemann, Carsten; Luo, Wenquin; Mahns, David A; Larsson, Max; Gerling, Gregory J; Marshall, Andrew G; Chesler, Alexander T; Olausson, Håkan; Nagi, Saad S; Szczot, Marcin