1. A multinational study on motor function in early-onset FSHD. (10th April 2018) Authors: Mah, Jean K.; Feng, Jia; Jacobs, Marni B.; Duong, Tina; Carroll, Kate; de Valle, Katy; Carty, Cara L.; Morgenroth, Lauren P.; Guglieri, Michela; Ryan, Monique M.; Clemens, Paula R.; Thangarajh, Mathula; Webster, Richard; Smith, Edward; Connolly, Anne M.; McDonald, Craig M.; Karachunski, Peter; Tu... Journal: Neurology Issue: Volume 90:Number 15(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Autosomal recessive MFN2‐related Charcot‐Marie‐Tooth disease with diaphragmatic weakness: Case report and literature review. Issue 6 (8th March 2016) Authors: Tan, Christopher A.; Rabideau, Marina; Blevins, Amy; Westbrook, Marjorie Jody; Ekstein, Tali; Nykamp, Keith; Deucher, Anne; Harper, Amy; Demmer, Laurie Journal: American journal of medical genetics Issue: Volume 170:Issue 6(2016) Page Start: 1580 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Child Neurology: Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl. (2nd November 2021) Authors: Dinov, Darina; Vorona, Gregory; Harper, Amy Journal: Neurology Issue: Volume 97:Number 18(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Child Neurology: Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl. (2nd November 2021) Authors: Dinov, Darina; Vorona, Gregory; Harper, Amy Journal: Neurology Issue: Volume 97:Number 18(2021) Page Start: 875 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2‐p12) deletion. Issue 5 (19th June 2015) Authors: Jerath, Nivedita U.; Kamholz, John; Grider, Tiffany; Harper, Amy; Swenson, Andrea; Shy, Michael E. Journal: Muscle & nerve Issue: Volume 52:Issue 5(2015:Nov.) Page Start: 905 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Efficacy of Hyperthermic Intraperitoneal Chemotherapy and Cytoreductive Surgery in the Treatment of Recurrent Uterine Sarcoma. Issue 6 (1st June 2018) Authors: Díaz-Montes, Teresa P.; El-Sharkawy, Farah; Lynam, Sarah; Harper, Amy; Sittig, Michelle; MacDonald, Ryan; Gushchin, Vadim; Sardi, Armando Journal: International journal of gynecological cancer Issue: Volume 28:Issue 6(2018) Page Start: 1130 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Efficacy of Hyperthermic Intraperitoneal Chemotherapy and Cytoreductive Surgery in the Treatment of Recurrent Uterine Sarcoma. Issue 6 (July 2018) Authors: Díaz-Montes, Teresa P.; El-Sharkawy, Farah; Lynam, Sarah; Harper, Amy; Sittig, Michelle; MacDonald, Ryan; Gushchin, Vadim; Sardi, Armando Journal: International journal of gynecological cancer Issue: Volume 28:Issue 6(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction. Issue 4 (24th August 2016) Authors: Duis, Jessica; Dean, Shannon; Applegate, Carolyn; Harper, Amy; Xiao, Rui; He, Weimin; Dollar, James D.; Sun, Lisa R.; Waberski, Marta Biderman; Crawford, Thomas O.; Hamosh, Ada; Stafstrom, Carl E. Journal: Annals of neurology Issue: Volume 80:Issue 4(2016:Oct.) Page Start: 633 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Response to immunotherapy in a patient with Landau‐Kleffner syndrome and GRIN2A mutation. Issue 1 (March 2016) Authors: Fainberg, Nina; Harper, Amy; Tchapyjnikov, Dmitry; Mikati, Mohamad A. Journal: Epileptic disorders Issue: Volume 18:Issue 1(2016:Mar.) Page Start: 97 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗