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S

Shireen R. Lamandé

department of paediatrics, university of melbourne, the murdoch children’s research institute , parkville, vic 3052 ,
H指数:37
被引数:4,219

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Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

COL6相关严重型肌营养不良的表征：由复发性变异COL6A1 c.930+189C>T引起

Brain
IF11.7
2025-04-030
OA
A Reghan Foley; Véronique Bolduc; Fady Guirguis; Sandra Donkervoort; Ying Hu; Rotem Orbach; Riley M McCarty; Apurva Sarathy; Gina Norato; Beryl B Cummings; Monkol Lek; Anna Sarkozy; Russell J Butterfield; Janbernd Kirschner; Andrés Nascimento; Daniel Natera-de Benito; Susana Quijano-Roy; Tanya Stojkovic; Luciano Merlini; Giacomo Comi; Monique Ryan; Denise McDonald; Pinki Munot; Grace Yoon; Edward Leung; Erika Finanger; Meganne E Leach; James Collins; Cuixia Tian; Payam Mohassel; Sarah B Neuhaus; Dimah Saade; Benjamin T Cocanougher; Mary-Lynn Chu; Mena Scavina; Carla Grosmann; Randal Richardson; Brian D Kossak; Sidney M Gospe; Vikram Bhise; Gita Taurina; Baiba Lace; Monica Troncoso; Mordechai Shohat; Adel Shalata; Sophelia H S Chan; Manu Jokela; Johanna Palmio; Göknur Haliloğlu; Cristina Jou; Corine Gartioux; Herimela Solomon-Degefa; Carolin D Freiburg; Alvise Schiavinato; Haiyan Zhou; Sara Aguti; Yoram Nevo; Ichizo Nishino; Cecilia Jimenez-Mallebrera; Shireen R Lamandé; Valérie Allamand; Francesca Gualandi; Alessandra Ferlini; Daniel G MacArthur; Steve D Wilton; Raimund Wagener; Enrico Bertini; Francesco Muntoni; Carsten G Bönnemann
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies
JCI INSIGHT
IF6.1
2019-03-2139
OA
Bolduc, Veronique; Foley, A. Reghan; Solomon-Degefa, Herimela; Sarathy, Apurva; Donkervoort, Sandra; Hu, Ying; Chen, Grace S.; Sizov, Katherine; Nalls, Matthew; Zhou, Haiyan; Aguti, Sara; Cummings, Beryl B.; Lek, Monkol; Tukiainen, Taru; Marshall, Jamie L.; Regev, Oded; Marek-Yagel, Dina; Sarkozy, Anna; Butterfield, Russell J.; Jou, Cristina; Jimenez-Mallebrera, Cecilia; Li, Yan; Gartioux, Corine; Mamchaoui, Kamel; Allamand, Valerie; Gualandi, Francesca; Ferlini, Alessandra; Hanssen, Eric; Wilton, Steve D.; Lamande, Shireen R.; MacArthur, Daniel G.; Wagener, Raimund; Muntoni, Francesco; Bonnemann, Carsten G.
GAPTrap: A Simple Expression System for Pluripotent Stem Cells and Their Derivatives

GAPTrap: 多能干细胞及其衍生物的简单表达系统

STEM CELL REPORTS
IF5.1
2016-09-0126
OAAI
Kao, Tim; Labonne, Tanya; Niclis, Jonathan C.; Chaurasia, Ritu; Lokmic, Zerina; Qian, Elizabeth; Bruveris, Freya F.; Howden, Sara E.; Motazedian, Ali; Schiesser, Jacqueline V.; Costa, Magdaline; Sourris, Koula; Ng, Elizabeth; Anderson, David; Giudice, Antonietta; Farlie, Peter; Cheung, Michael; Lamande, Shireen R.; Penington, Anthony J.; Parish, Clare L.; Thomson, Lachlan H.; Rafii, Arash; Elliott, David A.; Elefanty, Andrew G.; Stanley, Edouard G.

研究方向

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John F. Bateman
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