1. Development of therapeutic genome engineering in laminin-α2-deficient congenital muscular dystrophy. Issue 1 (14th March 2019) Authors: Kemaladewi, Dwi U.; Cohn, Ronald D. Editors: MacKenzie, Alex; Groft, Stephen; Justice, Monica; van Karnebeek, Clara Journal: Emerging topics in life sciences Issue: Volume 3:Issue 1(2019) Page Start: 11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Model systems inform rare disease diagnosis, therapeutic discovery and pre-clinical efficacy. Issue 1 (13th March 2019) Authors: Enikanolaiye, Adebola; Justice, Monica J. Editors: MacKenzie, Alex; Groft, Stephen; Justice, Monica; van Karnebeek, Clara Journal: Emerging topics in life sciences Issue: Volume 3:Issue 1(2019) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Modulation of proteostasis and protein trafficking: a therapeutic avenue for misfolded G protein-coupled receptors causing disease in humans. Issue 1 (13th March 2019) Authors: Ulloa-Aguirre, Alfredo; Janovick, Jo Ann Editors: MacKenzie, Alex; Groft, Stephen; Justice, Monica; van Karnebeek, Clara Journal: Emerging topics in life sciences Issue: Volume 3:Issue 1(2019) Page Start: 39 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. P4 medicine for epilepsy and intellectual disability: nutritional therapy for inherited metabolic disease. Issue 1 (27th March 2019) Authors: Tseng, Laura A.; Sowerbutt, Claire; Lee, Jessica J.Y.; van Karnebeek, Clara D.M. Editors: MacKenzie, Alex; Groft, Stephen; Justice, Monica; van Karnebeek, Clara Journal: Emerging topics in life sciences Issue: Volume 3:Issue 1(2019) Page Start: 75 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Pharmacologic normalization of pathogenic dosage underlying genetic diseases: an overview of the literature and path forward. Issue 1 (18th March 2019) Authors: Poirier, Mathieu B.; Hadwen, Jeremiah; MacKenzie, Alex Editors: MacKenzie, Alex; Groft, Stephen; Justice, Monica; van Karnebeek, Clara Journal: Emerging topics in life sciences Issue: Volume 3:Issue 1(2019) Page Start: 53 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Substrate reduction therapy for inborn errors of metabolism. Issue 1 (8th February 2019) Authors: Yue, Wyatt W.; Mackinnon, Sabrina; Bezerra, Gustavo A. Editors: MacKenzie, Alex; Groft, Stephen; Justice, Monica; van Karnebeek, Clara Journal: Emerging topics in life sciences Issue: Volume 3:Issue 1(2019) Page Start: 63 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome. Issue 1 (28th January 2019) Authors: Thompson, Rachel; Bonne, Gisèle; Missier, Paolo; Lochmüller, Hanns Editors: MacKenzie, Alex; Groft, Stephen; Justice, Monica; van Karnebeek, Clara Journal: Emerging topics in life sciences Issue: Volume 3:Issue 1(2019) Page Start: 19 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The Collaborative Network Approach: a model for advancing patient-centric research for Castleman disease and other rare diseases. Issue 1 (13th March 2019) Authors: Zuccato, Mary; Shilling, Dustin; Fajgenbaum, David C. Editors: MacKenzie, Alex; Groft, Stephen; Justice, Monica; van Karnebeek, Clara Journal: Emerging topics in life sciences Issue: Volume 3:Issue 1(2019) Page Start: 97 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Issue 1 (December 2016) Authors: Merkel, Peter; Manion, Michele; Gopal-Srivastava, Rashmi; Groft, Stephen; Jinnah, H.; Robertson, David; Krischer, Jeffrey Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗