1. A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes Syndrome. (February 2013) Authors: Emmanuele, Valentina; Sotiriou, Evangelia; Rios, Purificación Gutierrez; Ganesh, Jaya; Ichord, Rebecca; Foley, A. Reghan; Akman, H. Orhan; DiMauro, Salvatore Journal: Journal of child neurology Issue: Volume 28:Number 2(2013) Page Start: 236 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Adult MTM1-related myopathy carriers: Classification based on deep phenotyping. (15th October 2019) Authors: Cocanougher, Benjamin T.; Flynn, Lauren; Yun, Pomi; Jain, Minal; Waite, Melissa; Vasavada, Ruhi; Wittenbach, Jason D.; de Chastonay, Sabine; Chhibber, Sameer; Innes, A. Micheil; MacLaren, Linda; Mozaffar, Tahseen; Arai, Andrew E.; Donkervoort, Sandra; Bönnemann, Carsten G.; Foley, A. Reghan Journal: Neurology Issue: Volume 93:Number 16(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy. Issue 1 (January 2019) Authors: Mohassel, Payam; Landon-Cardinal, Océane; Foley, A. Reghan; Donkervoort, Sandra; Pak, Katherine S.; Wahl, Colleen; Shebert, Robert T.; Harper, Amy; Fequiere, Pierre; Meriggioli, Matthew; Toro, Camilo; Drachman, Daniel; Allenbach, Yves; Benveniste, Olivier; Béhin, Anthony; Eymard, Bruno; Lafôret, ... Journal: Neurology Issue: Volume 6:Issue 1(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Anti–3‐hydroxy‐3‐methylglutaryl‐coenzyme a reductase necrotizing myopathy masquerading as a muscular dystrophy in a child. Issue 6 (25th April 2017) Authors: Mohassel, Payam; Foley, A. Reghan; Donkervoort, Sandra; Fequiere, Pierre R.; Pak, Katherine; Bönnemann, Carsten G.; Mammen, Andrew L. Journal: Muscle & nerve Issue: Volume 56:Issue 6(2017) Page Start: 1177 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies. (9th March 2021) Authors: Natera-de Benito, Daniel; Foley, A. Reghan; Domínguez-González, Cristina; Ortez, Carlos; Jain, Minal; Mebrahtu, Aron; Donkervoort, Sandra; Hu, Ying; Fink, Margaret; Yun, Pomi; Ogata, Tracy; Medina, Julita; Vigo, Meritxell; Meilleur, Katherine G.; Leach, Meganne E.; Dastgir, Jahannaz; Díaz-Manera,... 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) ↗
6. Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. Issue 10 (10th August 2020) Authors: Donkervoort, Sandra; Mohassel, Payam; Laugwitz, Lucia; Zaki, Maha S.; Kamsteeg, Erik‐Jan; Maroofian, Reza; Chao, Katherine R.; Verschuuren‐Bemelmans, Corien C.; Horber, Veronka; Fock, Annemarie J. M.; McCarty, Riley M.; Jain, Minal S.; Biancavilla, Victoria; McMacken, Grace; Nalls, Matthew; Voerm... Journal: American journal of medical genetics Issue: Volume 182:Issue 10(2020) Page Start: 2272 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Congenital myasthenic syndrome due to DPAGT1 mutations mimicking congenital myopathy in an Irish family. (22nd January 2018) Authors: Bogdanova‐Mihaylova, P.; Murphy, R. P. J.; Alexander, M. D.; McHugh, J. C.; Foley, A. Reghan; Brett, F.; Murphy, S. M. Journal: European journal of neurology Issue: Volume 25:Number 2(2018) Page Start: e22 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants. (29th March 2022) Authors: Mohassel, Payam; Chang, Ning; Inoue, Kaoru; Delaney, Angela; Hu, Ying; Donkervoort, Sandra; Saade, Dimah; Billioux, B. Jeanne; Meader, Brooke; Volochayev, Rita; Konersman, Chamindra G.; Kaindl, Angela M.; Cho, Chie-Hee; Russell, Bianca; Rodriguez, Adrian; Foster, K. Wade; Foley, A. Reghan; Moore,... Journal: Neurology Issue: Volume 98:Number 13(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Dominant collagen XII mutations cause a distal myopathy. Issue 10 (11th September 2019) Authors: Mohassel, Payam; Liewluck, Teerin; Hu, Ying; Ezzo, Daniel; Ogata, Tracy; Saade, Dimah; Neuhaus, Sarah; Bolduc, Véronique; Zou, Yaqun; Donkervoort, Sandra; Medne, Livija; Sumner, Charlotte J.; Dyck, P. James B.; Wierenga, Klaas J.; Tennekoon, Gihan; Finkel, Richard S.; Chen, Jiani; Winder, Thomas ... Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 10(2019) Page Start: 1980 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗