1. A Cross-Sectional Study of Nemaline Myopathy. (9th March 2021) Authors: Amburgey, Kimberly; Acker, Meryl; Saeed, Samia; Amin, Reshma; Beggs, Alan H.; Bönnemann, Carsten G.; Brudno, Michael; Constantinescu, Andrei; Dastgir, Jahannaz; Diallo, Mamadou; Genetti, Casie A.; Glueck, Michael; Hewson, Stacy; Hum, Courtney; Jain, Minal S.; Lawlor, Michael W.; Meyer, Oscar H.; ... Journal: Neurology Issue: Volume 96:Number 10(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study. Issue 4 (22nd December 2017) Authors: Beggs, Alan H.; Byrne, Barry J.; De Chastonay, Sabine; Haselkorn, Tmirah; Hughes, Imelda; James, Emma S.; Kuntz, Nancy L.; Simon, Jennifer; Swanson, Lindsay C.; Yang, Michele L.; Yu, Zi‐Fan; Yum, Sabrina W.; Prasad, Suyash Journal: Muscle & nerve Issue: Volume 57:Issue 4(2018) Page Start: 550 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A natural history study of X-linked myotubular myopathy. (26th September 2017) Authors: Amburgey, Kimberly; Tsuchiya, Etsuko; de Chastonay, Sabine; Glueck, Michael; Alverez, Rachel; Nguyen, Cam-Tu; Rutkowski, Anne; Hornyak, Joseph; Beggs, Alan H.; Dowling, James J. Journal: Neurology Issue: Volume 89:Number 13(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop. Issue 3 (March 2017) Authors: Karakaya, Mert; Ceyhan-Birsoy, Ozge; Beggs, Alan H.; Topaloglu, Haluk Journal: Journal of clinical neuromuscular disease Issue: Volume 18:Issue 3(2017:Mar.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies. Issue 7 (1st April 2019) Authors: Bachmann, Christoph; Noreen, Faiza; Voermans, Nicol C.; Schär, Primo L.; Vissing, John; Fock, Johanna M.; Bulk, Saskia; Kusters, Benno; Moore, Steven A.; Beggs, Alan H.; Mathews, Katherine D.; Meyer, Megan; Genetti, Casie A.; Meola, Giovanni; Cardani, Rosanna; Mathews, Emma; Jungbluth, Heinz; Mun... Journal: Human mutation Issue: Volume 40:Issue 7(2019) Page Start: 962 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Issue 1 (24th October 2020) Authors: Dyment, David A.; O'Donnell‐Luria, Anne; Agrawal, Pankaj B.; Coban Akdemir, Zeynep; Aleck, Kyrieckos A.; Antaki, Danny; Al Sharhan, Hind; Au, Ping‐Yee B.; Aydin, Hatip; Beggs, Alan H.; Bilguvar, Kaya; Boerwinkle, Eric; Brand, Harrison; Brownstein, Catherine A.; Buyske, Steve; Chodirker, Bernard; ... Journal: American journal of medical genetics Issue: Volume 185:Issue 1(2021) Page Start: 119 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Issue 2 (27th December 2019) Authors: Villar‐Quiles, Rocío N.; Catervi, Fabio; Cabet, Eva; Juntas‐Morales, Raul; Genetti, Casie A.; Gidaro, Teresa; Koparir, Asuman; Yüksel, Adnan; Coppens, Sandra; Deconinck, Nicolas; Pierce‐Hoffman, Emma; Lornage, Xavière; Durigneux, Julien; Laporte, Jocelyn; Rendu, John; Romero, Norma B.; Beggs, Ala... Journal: Annals of neurology Issue: Volume 87:Issue 2(2020) Page Start: 217 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. (August 2018) Authors: Machol, Keren; Jankovic, Joseph; Vijayakumar, Dhanya; Burrage, Lindsay C.; Jain, Mahim; Lewis, Richard A.; Fuller, Gregory N.; Xu, Mingchu; Penas-Prado, Marta; Gule-Monroe, Maria K.; Rosenfeld, Jill A.; Chen, Rui; Eng, Christine M.; Yang, Yaping; Lee, Brendan H.; Moretti, Paolo M.; Dhar, Shweta U... Journal: Neurology Issue: Volume 4:Number 4(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Issue 6 (27th July 2018) Authors: Oates, Emily C.; Jones, Kristi J.; Donkervoort, Sandra; Charlton, Amanda; Brammah, Susan; Smith, John E.; Ware, James S.; Yau, Kyle S.; Swanson, Lindsay C.; Whiffin, Nicola; Peduto, Anthony J.; Bournazos, Adam; Waddell, Leigh B.; Farrar, Michelle A.; Sampaio, Hugo A.; Teoh, Hooi Ling; Lamont, Phi... Journal: Annals of neurology Issue: Volume 83:Issue 6(2018) Page Start: 1105 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1‐related nemaline myopathy (NEM3). Issue 2 (6th February 2018) Authors: Joureau, Barbara; de Winter, Josine Marieke; Conijn, Stefan; Bogaards, Sylvia J. P.; Kovacevic, Igor; Kalganov, Albert; Persson, Malin; Lindqvist, Johan; Stienen, Ger J. M.; Irving, Thomas C.; Ma, Weikang; Yuen, Michaela; Clarke, Nigel F.; Rassier, Dilson E.; Malfatti, Edoardo; Romero, Norma B.; ... Journal: Annals of neurology Issue: Volume 83:Issue 2(2018) Page Start: 269 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗