학술논문
'학술논문'
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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Academic Journal
Nashabat, M.; Nabavizadeh, N.; Saraçoğlu, H.P.; Sarıbaş, B.; Yılmaz, E.; Uygur, S.E.; Eren, Z.B.; Avcı, Ş.; Börklü, E.; Kayserili, H.; Beillard, E.; Kayhan, C.K.; Bosco, L.; Zanni, G.; Steindl, K.; Rauch, A.; Bahr, A.; Richter, M.F.; Bademci, G.; Peart, L.; Gonzalez, J.M.; Zuchner, S.; Bivona, S.A.; Tekin, M.; Fattahi, Z.; Kariminejad, A.; Valentino, M.L.; Connolly, A.M.; Viola, L.; Bergmann, A.K.; von Hardenberg, S.; Rocha, M.E.; Khan, S.; Pinto, A.; Bertoli-Avella, A.; Castro-Rojas, D.L.; Bültmann, E.; Giarrana, M.L.; Teleanu, R.I.; Epure, D.A.; Pini, A.; Schädlich, I.S.; Vill, K.; Brunet, T.; Brugger, M.; Donkervoort, S.; Bönnemann, C.G.; Riza, A.; Streata, I.; Gläser, D.; Baquero-Montoya, C.; Garcia-Restrepo, N.; Kotzaeridou, U.; Stettner, G.M.; Oflazer, Z.P.; Escande-Beillard, N.
In: Nature communications . (Nature communications, 27 February 2024, 15(1):1758)
Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy
Academic Journal
Meyer, A.P.; Connolly, A.M.; Waldrop, M.A.; Vannatta, K.; Hacker, N.; Hatfield, A.; Decipeda, A.; Parker, P.; Willoughby, A.
In: Journal of Neuromuscular Diseases . (Journal of Neuromuscular Diseases, 2 January 2024, 11(1):129-142)
Academic Journal
Clemens, P.R.; Niizawa, G.; Gordish-Dressman, H.; Gorni, K.; Guglieri, M.; Connolly, A.M.; Wicklund, M.; Bertorini, T.; Mah, J.; Thangarajh, M.; Harper, A.; Smith, E.C.; Kuntz, N.L.; McDonald, C.M.; Henricson, E.; Upadhyayula, S.; Byrne, B.; Manousakis, G.; Iannaccone, S.; Dang, U.J.
In: Journal of Neuromuscular Diseases . (Journal of Neuromuscular Diseases, 2 January 2024, 11(1):201-212)
Academic Journal
Zaidman, C.M.; Goedeker, N.L.; Aqul, A.A.; Butterfield, R.J.; Connolly, A.M.; Mendell, J.R.; Crystal, R.G.; Godwin, K.E.; Kula Smyth, E.; Hor, K.N.; Mathews, K.D.; Proud, C.M.; Veerapandiyan, A.; Watkins, P.B.
In: Journal of neuromuscular diseases . (Journal of neuromuscular diseases, 2024, 11(3):687-699)
Academic Journal
Waldrop, M.A.; Meyer, A.; Iammarino, M.; Reash, N.; Alfano, L.; Lowes, L.; Mendell, J.R.; Connolly, A.M.; Tsao, C.-Y.; Chagat, S.; Storey, M.; Noritz, G.; Prochoroff, A.; Rossman, I.; Ginsberg, M.; Mosher, K.; Broomall, E.; Bass, N.; Gushue, C.; Kotha, K.; Paul, G.; Shell, R.
In: Neuromuscular Disorders . (Neuromuscular Disorders, January 2024, 34:41-48)
Academic Journal
In: ACS Omega . (ACS Omega, 11 April 2023, 8(14):13131-13139)
Academic Journal
In: American Journal of Industrial Medicine . (American Journal of Industrial Medicine, April 2023, 66(4):320-332)
Academic Journal
Connolly, A.M.; Zaidman, C.M.; Brandsema, J.F.; Phan, H.C.; Tian, C.; Zhang, X.; Li, J.; Eisner, M.D.; Carrier, E.
In: Journal of Neuromuscular Diseases . (Journal of Neuromuscular Diseases, 2023, 10(4):685-699)
Academic Journal
Finkel, R.S.; Darras, B.T.; Mendell, J.R.; Connolly, A.M.; Day, J.W.; Kuntz, N.L.; Zaidman, C.M.; Crawford, T.O.; Butterfield, R.J.; Shieh, P.B.; Tennekoon, G.; Brandsema, J.F.; Iannaccone, S.T.; Shoffner, J.; Kavanagh, S.; Macek, T.A.; Tauscher-Wisniewski, S.
In: Journal of neuromuscular diseases . (Journal of neuromuscular diseases, 2023, 10(3):389-404)
Academic Journal
Clemens, P.R.; Rao, V.K.; Connolly, A.M.; Harper, A.D.; Mah, J.K.; McDonald, C.M.; Smith, E.C.; Zaidman, C.M.; Nakagawa, T.; Hoffman, E.P.
In: Journal of neuromuscular diseases . (Journal of neuromuscular diseases, 2023, 10(3):439-447)
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제한된 항목
[AR] Connolly, A.M.
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