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

Adrenal Suppression in Duchenne Muscular Dystrophy: Management Strategies Incorporating Novel Steroid Vamorolone

杜氏肌营养不良症的肾上腺抑制:包含新型类固醇Vamorolone的治疗策略

Sbrocchi, Anne Marie; Kinnett, Kathi; Lautatzis, Maria-Elena; McMillan, Hugh J; Selby, Kathryn A; Veerapandiyan, Aravind; Weber, David R; Apkon, Susan; Bharucha-Goebel, Diana X; Bharill, Sonum; Bansal, Shipra; Clemens, Paula R; Fiscaletti, Melissa; Halloun, Rana; Lam, Carol; Merchant, Nadia; McAdam, Laura; Nasomyont, Nat; Nicolau, Stefan; Ochoa Molina, Maria F; Phung, Kim; Rutter, Meilan M; Scavina, Mena; Surampudi, Prasanth N; Tamaroff, Jaclyn; Tian, Cuixia; Ward, Leanne M; Wood, Claire L; Wong, Sze Choong; Ahmet, Alex

Scoliosis correction in spinal muscular atrophy : the influence of genetic severity, functional level, and disease-modifying agents on postoperative outcomes

脊髓性肌萎缩症脊柱侧弯矫正术:遗传严重程度、功能水平和疾病修饰剂对术后结果的影响

Çiftci, Sadettin; Shrader, Michael Wade; Hori, Yusuke; Scavina, Mena; Heinle, Robert; Mackenzie, William G; Howard, Jason J

The expanding clinical and genetic spectrum of DYNC1H1-related disorders

DYNC1H1相关疾病的临床和遗传谱不断扩大

Möller, Birk; Becker, Lena-Luise; Saffari, Afshin; Afenjar, Alexandra; Coci, Emanuele G; Williamson, Rachel; Ward-Melver, Catherine; Gibaud, Marc; Sedláčková, Lucie; Laššuthová, Petra; Libá, Zuzana; Vlčková, Markéta; William, Nancy; Klee, Eric W; Gavrilova, Ralitza H; Lévy, Jonathan; Capri, Yline; Scavina, Mena; Körner, Robert Walter; Valivullah, Zaheer; Weiß, Claudia; Möller, Greta Marit; Frazier, Zoë; Roberts, Amy; Gener, Blanca; Scala, Marcello; Striano, Pasquale; Zara, Federico; Thiel, Moritz; Sinnema, Margje; Kamsteeg, Erik-Jan; Donkervoort, Sandra; Duboc, Veronique; Zaafrane-Khachnaoui, Khaoula; Elkhateeb, Nour; Selim, Laila; Margot, Henri; Marin, Victor; Beneteau, Claire; Isidor, Bertrand; Cogne, Benjamin; Keren, Boris; Küsters, Benno; Beggs, Alan H; Sveden, Abigail; Chopra, Maya; Genetti, Casie A; Nicolai, Joost; Dötsch, Jörg; Koy, Anne; Bönnemann, Carsten G; von der Hagen, Maja; von Kleist-Retzow, Jürgen-Christoph; Voermans, Nicol C; Jungbluth, Heinz; Dafsari, Hormos Salimi

The Early Care (0-3 Years) In Duchenne Muscular Dystrophy Meeting Report

杜氏肌营养不良症早期护理(0-3岁)会议报告

Armstrong, Niki; Apkon, Susan; Berggren, Kiera N; Braun, Catherine; Ciafaloni, Emma; Connolly, Anne; Kennedy, Annie; Kuntz, Nancy; Mathews, Katherine; McGuire, Michelle; Parad, Richard; Scavina, Mena; Scharf, Rebecca J; Waldrop, Megan

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

Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR

利用阵列数字PCR检测SMN1到SMN2基因转换事件和SMN1基因部分缺失。

Stabley, Deborah L; Holbrook, Jennifer; Scavina, Mena; Crawford, Thomas O; Swoboda, Kathryn J; Robbins, Katherine M; Butchbach, Matthew E R

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family

一种新的MFN2基因突变导致多代CMT2家族患者出现不同的临床症状严重程度。

Dankwa, Lois; Richardson, Jessica; Motley, William W; Scavina, Mena; Courel, Steve; Bardakjian, Tanya; Züchner, Stephan; Scherer, Steven S

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

GMPPB相关肌营养不良蛋白病:表型相关性的新兴常见变异

Jensen, Braden S; Willer, Tobias; Saade, Dimah N; Cox, Mary O; Mozaffar, Tahseen; Scavina, Mena; Stefans, Vikki A; Winder, Thomas L; Campbell, Kevin P; Moore, Steven A; Mathews, Katherine D

SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR.

通过阵列数字PCR测量脊髓性肌萎缩症患者细胞系中SMN1和SMN2拷贝数

Stabley Deborah L, Harris Ashlee W, Holbrook Jennifer, Chubbs Nicholas J, Lozo Kevin W, Crawford Thomas O, Swoboda Kathryn J, Funanage Vicky L, Wang Wenlan, Mackenzie William, Scavina Mena, Sol-Church Katia, Butchbach Matthew E R

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway

NGLY1基因突变会导致内质网相关降解途径的遗传性疾病。

Enns, Gregory M; Shashi, Vandana; Bainbridge, Matthew; Gambello, Michael J; Zahir, Farah R; Bast, Thomas; Crimian, Rebecca; Schoch, Kelly; Platt, Julia; Cox, Rachel; Bernstein, Jonathan A; Scavina, Mena; Walter, Rhonda S; Bibb, Audrey; Jones, Melanie; Hegde, Madhuri; Graham, Brett H; Need, Anna C; Oviedo, Angelica; Schaaf, Christian P; Boyle, Sean; Butte, Atul J; Chen, Rui; Chen, Rong; Clark, Michael J; Haraksingh, Rajini; Cowan, Tina M; He, Ping; Langlois, Sylvie; Zoghbi, Huda Y; Snyder, Michael; Gibbs, Richard A; Freeze, Hudson H; Goldstein, David B