학술논문
'학술논문'
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Academic Journal
Day, John W ; Finkel, Richard S; Chiriboga, Claudia A; Connolly, Anne M; Crawford, Thomas O; Darras, Basil T; Iannaccone, Susan T; Kuntz, Nancy L; Peña, Loren D M; Shieh, Perry B; Smith, Edward C; Kwon, Jennifer M; Zaidman, Craig M; Schultz, Meredith; Feltner, Douglas E; Tauscher-Wisniewski, Sitra; Ouyang, Haojun; Chand, Deepa H; Sproule, Douglas M; Macek, Thomas A; Mendell, Jerry R
In The Lancet Neurology April 2021 20(4):284-293
Academic Journal
Waldrop, Megan A; Moore, Steven A; Mathews, Katherine D; Darbro, Benjamin W; Medne, Livja; Finkel, Richard; Connolly, Anne M; Crawford, Thomas O; Drachman, Daniel; Wein, Nicolas; Habib, Ali A; Krzesniak-Swinarska, Monika A; Zaidman, Craig M; Collins, James J; Jokela, Manu; Udd, Bjarne; Day, John W; Ortiz-Guerrero, Gloria; Statland, Jeff; Butterfield, Russell J; Dunn, Diane M; Weiss, Robert B; Flanigan, Kevin M
Human mutation. 43(4)
Academic Journal
Rudnicki, Stacy A; Andrews, Jinsy A; Duong, Tina; Cockroft, Bettina M; Malik, Fady I; Meng, Lisa; Wei, Jenny; Wolff, Andrew A; Genge, Angela; Johnson, Nicholas E; Tesi-Rocha, Carolina; Connolly, Anne M; Darras, Basil T; Felice, Kevin; Finkel, Richard S; Shieh, Perry B; Mah, Jean K; Statland, Jeffrey; Campbell, Craig; Habib, Ali A; Kuntz, Nancy L; Oskoui, Maryam; Day, John W
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 18(2)
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Electronic Resource
Nashabat, Marwan; Nabavizadeh, Nasrinsadat; https://orcid.org/0000-0002-1629-6956; Saraçoğlu, Hilal Pırıl; https://orcid.org/0000-0002-3734-489X; Sarıbaş, Burak; https://orcid.org/0000-0003-4329-0418; Avcı, Şahin; Börklü, Esra; https://orcid.org/0000-0002-1326-0608; Beillard, Emmanuel; https://orcid.org/0000-0002-2546-7614; Yılmaz, Elanur; https://orcid.org/0000-0001-7045-5068; Uygur, Seyide Ecesu; Kayhan, Cavit Kerem; https://orcid.org/0000-0001-5754-9289; Bosco, Luca; Eren, Zeynep Bengi; Steindl, Katharina; https://orcid.org/0000-0002-4425-3072; Richter, Manuela Friederike; https://orcid.org/0000-0002-5735-4526; Bademci, Guney; Rauch, Anita; https://orcid.org/0000-0003-2930-3163; Fattahi, Zohreh; Valentino, Maria Lucia; Connolly, Anne M; Bahr, Angela; https://orcid.org/0000-0001-9759-2599; Viola, Laura; https://orcid.org/0000-0001-7410-6869; Bergmann, Anke Katharina; https://orcid.org/0000-0002-1367-2725; Rocha, Maria Eugenia; Peart, LeShon; https://orcid.org/0000-0003-1068-1906; Castro-Rojas, Derly Liseth; Bültmann, Eva; Khan, Suliman; Giarrana, Miriam Liliana; Teleanu, Raluca Ioana; Stettner, Georg M; https://orcid.org/0000-0002-0906-8816; et al
Nashabat, Marwan; Nabavizadeh, Nasrinsadat; Saraçoğlu, Hilal Pırıl; Sarıbaş, Burak; Avcı, Şahin; Börklü, Esra; Beillard, Emmanuel; Yılmaz, Elanur; Uygur, Seyide Ecesu; Kayhan, Cavit Kerem; Bosco, Luca; Eren, Zeynep Bengi; Steindl, Katharina; Richter, Manuela Friederike; Bademci, Guney; Rauch, Anita; Fattahi, Zohreh; Valentino, Maria Lucia; Connolly, Anne M ; Bahr, Angela; Viola, Laura; Bergmann, Anke Katharina; Rocha, Maria Eugenia; Peart, LeShon; Castro-Rojas, Derly Liseth; Bültmann, Eva; Khan, Suliman; Giarrana, Miriam Liliana; Teleanu, Raluca Ioana; Stettner, Georg M; et al (2024). SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. Nature Communications, 15(1758):1758.
Academic Journal
Academic Journal
The Journal of Bone and Joint Surgery-American Volume. Jun 01, 2013 95-A(12):e86-1-2
Academic Journal
Le Marne, Fleur A; McGinness, Hannah; Slade, Rob; Cardamone, Michael; Balbir Singh, Shirleen; Connolly, Anne M; Bye, Ann ME
Academic Journal
Journal of Paediatrics and Child Health. Jul 01, 2015 51(7):704-707
Academic Journal
Scoto, Mariacristina; Rossor, Alexander M; Harms, Matthew B; Cirak, Sebahattin; Calissano, Mattia; Robb, Stephanie; Manzur, Adnan Y; Martínez Arroyo, Amaia; Rodriguez Sanz, Aida; Mansour, Sahar; Fallon, Penny; Hadjikoumi, Irene; Klein, Andrea; Yang, Michele; De Visser, Marianne; Overweg-Plandsoen, W C G Truus; Baas, Frank; Taylor, J Paul; Benatar, Michael; Connolly, Anne M
Neurology; 2/17/2015, Vol. 84 Issue 7, p668-679, 12p
Academic Journal
Journal of Paediatrics and Child Health. May 01, 2014 50(5):393-398
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[AR] Connolly, Anne M
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