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C

Conrad C. Weihl

Washington University School of Medicine
H指数:46
被引数:8,164

个人简介

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Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2025-04-010
OA
Hunn, Stephanie M.; Alfano, Lindsay N.; Jones, Aileen; Butler, Amanda; Lowes, Linda P.; Iammarino, Megan A.; Reash, Natalie F.; Pietruszewski, Lindsay; Sasidharan, Sandhya; Currence, Melissa; Statland, Jeffrey M.; Strahler, Talia; Will, Robert; Wicklund, Matthew; Dixon, Stacy; Augsburger, Renee; Mozaffar, Tahseen; Laubscher, Katie M.; Mockler, Shelley R. H.; Mathews, Katherine D.; Stinson, Nikia; Leung, Doris G.; Stark, Molly M.; Horton, Rebecca A.; Kang, Peter B.; James, Meredith K.; Clause, Amanda; Weihl, Conrad C.; Johnson, Nicholas E.
Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium study
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2024-12-150
OAAI
Alfano, Lindsay N.; James, Meredith K.; Petersen, Kristine v; Rudolf, Karen; Vissing, John; Augsburger, Renee; Mozaffar, Tahseen; Jones, Aileen; Butler, Amanda; Laubscher, Katie M.; Mockler, Shelley R. H.; Mathews, Katherine D.; Iammarino, Megan A.; Reash, Natalie F.; Pietruszewski, Lindsay; Lowes, Linda P.; Strahler, Talia; Wicklund, Matthew; Hunn, Stephanie; Weihl, Conrad C.; Sasidharan, Sandhya; Currence, Melissa; Statland, Jeffrey M.; Stinson, Nikia; Holzer, Megan; Leung, Doris G.; Lott, Donovan J.; Kang, Peter B.; Holsten, Scott; Desai, Urvi; Johnson, Nicholas E.; GRASP LGMD Consortium
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2024-08-301
OAAI
Mohan, Shruthi; McNulty, Shannon; Thaxton, Courtney; Elnagheeb, Marwa; Owens, Emma; Flowers, May; Nunnery, Teagan; Self, Autumn; Palus, Brooke; Gorokhova, Svetlana; Kennedy, April; Niu, Zhiyv; Johari, Mridul; Maiga, Alassane Baneye; Macalalad, Kelly; Clause, Amanda R.; Beckmann, Jacques S.; Bronicki, Lucas; Cooper, Sandra T.; Ganesh, Vijay S.; Kang, Peter B.; Kesari, Akanchha; Lek, Monkol; Levy, Jennifer; Rufibach, Laura; Savarese, Marco; Spencer, Melissa J.; Straub, Volker; Tasca, Giorgio; Weihl, Conrad C.
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-11-015
OAAI
Mah-Som, Annelise Y.; Daw, Jil; Huynh, Diana; Wu, Mengcheng; Creekmore, Benjamin C.; Burns, William; Skinner, Steven A.; Holla, Oystein L.; Smeland, Marie F.; Planes, Marc; Uguen, Kevin; Redon, Sylvia; Bierhals, Tatjana; Scholz, Tasja; Denecke, Jonas; Mensah, Martin A.; Sczakiel, Henrike L.; Tichy, Heidelis; Verheyen, Sarah; Blatterer, Jasmin; Schreiner, Elisabeth; Thies, Jenny; Lam, Christina; Spaeth, Christine G.; Pena, Loren; Ramsey, Keri; Narayanan, Vinodh; Seaver, Laurie H.; Rodriguez, Diana; Afenjar, Alexandra; Burglen, Lydie; Lee, Edward B.; Chou, Tsui-Fen; Weihl, Conrad C.; Shinawi, Marwan S.
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy
NEUROLOGY-GENETICS
IF3.7
2023-10-016
OAAI
Schiava, Marianela; Ikenaga, Chiseko; Topf, Ana; Caballero-Avila, Marta; Chou, Tsui-Fen; Li, Shan; Wang, Feng; Daw, Jil; Stojkovic, Tanya; Villar-Quiles, Rocio; Nishino, Ichizo; Inoue, Michio; Nishimori, Yukako; Saito, Yoshihiko; Katsuno, Masahisa; Noda, Seiya; Ito, Chihiro; Otsuka, Mieko; Nahir, Sruthi; Manousakis, Georgios; Walk, David; Quinn, Colin; Alfano, Lindsay; Sahenk, Zarife; Tasca, Giorgio; Monforte, Mauro; Sabatelli, Mario; Bisogni, Giulia; Oldfors, Anders; Rydeliu, Anna; Pal, Endre; Paradas, Carmen; Velez, Beatriz; De Bleecker, Jan L.; Farugia, Maria Elena; Longman, Cheryl; Harms, Matthew B.; Ralston, Stuart; Zanoteli, Edmar; da Silva, Andre Macedo Serafim; Sotoca, Javier; Juntas-Morales, Raul; Bevilacqua, Jorge; Balart, Mireya; Talbot, Stuart; Straub, Volker; Guglieri, Michela; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Weihl, Conrad Chris
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs

COQ7的双等位基因变异导致远端遗传性运动神经病伴上运动神经元体征

BRAIN
IF11.7
2023-05-1212
PRE
Rebelo, Adriana P.; Tomaselli, Pedro J.; Medina, Jessica; Wang, Ying; Dohrn, Maike F.; Nyvltova, Eva; Danzi, Matt C.; Garrett, Mark; Smith, Sean E.; Pestronk, Alan; Li, Chengcheng; Ruiz, Ariel; Jacobs, Elizabeth; Feely, Shawna M. E.; Franca Jr, Marcondes C.; Gomes, Marcus, V; Santos, Diogo F.; Kumar, Surinder; Lombard, David B.; Saporta, Mario; Hekimi, Siegfried; Barrientos, Antoni; Weihl, Conrad; Shy, Michael E.; Marques, Wilson; Zuchner, Stephan
Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2023-04-075
OA
Roy, Bhaskar; Peck, Allison; Evangelista, Teresinha; Pfeffer, Gerald; Wang, Leo; Diaz-Manera, Jordi; Korb, Manisha; Wicklund, Matthew P.; Milone, Margherita; Freimer, Miriam; Kushlaf, Hani; Villar-Quiles, Rocio-Nur; Stojkovic, Tanya; Needham, Merrilee; Palmio, Johanna; Lloyd, Thomas P.; Keung, Benison; Mozaffar, Tahseen; Weihl, Conrad Chris; Kimonis, Virginia

研究方向

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Tsui‐Fen Chou
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T
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