1. A diagnostic confidence scheme for CLN3 disease. Issue 6 (7th September 2021) Authors: Masten, Margaux C.; Corre, Camille; Paciorkowski, Alex R.; Vierhile, Amy; Adams, Heather R.; Vermilion, Jennifer; Zimmerman, Grace A.; Augustine, Erika F.; Mink, Jonathan W. Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 6(2021) Page Start: 1453 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson Disease: Baseline Results. (11th October 2022) Authors: Jensen-Roberts, Stella; Myers, Taylor L.; Auinger, Peggy; Cannon, Paul; Rowbotham, Helen M.; Coker, Daniella; Chanoff, Eli; Soto, Julia; Pawlik, Meghan; Amodeo, Katherine; Sharma, Saloni; Valdovinos, Blanca; Wilson, Renee; Sarkar, Aayush; McDermott, Michael P.; Alcalay, Roy N.; Biglan, Kevin; Kin... Journal: Neurology Issue: Volume 8:Number 5(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Batten disease: an expert update on agents in preclinical and clinical trials. (1st December 2020) Authors: Masten, Margaux C.; Mink, Jonathan W.; Augustine, Erika F. Journal: Expert opinion on investigational drugs Issue: Volume 29:Number 12(2020) Page Start: 1317 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Classification and Natural History of the Neuronal Ceroid Lipofuscinoses. (September 2013) Authors: Mink, Jonathan W.; Augustine, Erika F.; Adams, Heather R.; Marshall, Frederick J.; Kwon, Jennifer M. Journal: Journal of child neurology Issue: Volume 28:Number 9(2013) Page Start: 1101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical pearls and scientific advancement: Reconciling tradition with new knowledge. (9th May 2017) Authors: Augustine, Erika F.; Gilbert, Donald L. Journal: Neurology Issue: Volume 88:Number 19(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical Trials in Rare Disease: Challenges and Opportunities. (September 2013) Authors: Augustine, Erika F.; Adams, Heather R.; Mink, Jonathan W. Journal: Journal of child neurology Issue: Volume 28:Number 9(2013) Page Start: 1142 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Data sharing to advance gene‐targeted therapies in rare diseases. Issue 1 (3rd January 2023) Authors: Lekstrom‐Himes, Julie; Augustine, Erika F.; Brower, Amy; Defay, Thomas; Finkel, Richard S.; McGuire, Amy L.; Skinner, Mark W.; Yu, Timothy W. Other Names: Urv Tiina guestEditor.; Parisi Melissa guestEditor. Journal: American journal of medical genetics Issue: Volume 193:Issue 1(2023) Page Start: 87 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Delineation of the movement disorders associated with FOXG1 mutations. (10th May 2016) Authors: Papandreou, Apostolos; Schneider, Ruth B.; Augustine, Erika F.; Ng, Joanne; Mankad, Kshitij; Meyer, Esther; McTague, Amy; Ngoh, Adeline; Hemingway, Cheryl; Robinson, Robert; Varadkar, Sophia M.; Kinali, Maria; Salpietro, Vincenzo; O'Driscoll, Margaret C.; Basheer, S. Nigel; Webster, Richard I.; M... Journal: Neurology Issue: Volume 86:Number 19(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Experimental Neurotherapeutics: Surfing the Tidal Wave of New Opportunities. Issue 3 (16th January 2023) Authors: Reoma, Lauren B.; Busza, Ania; Mouradian, M. Maral; Kaufmann, Petra; Augustine, Erika F.; Frank, Samuel; Sutula, Thomas P.; Cole, Andrew J.; Fitter, Heather D.; Meurer, William; Nath, Avindra; Griggs, Robert C. Journal: Annals of neurology Issue: Volume 93:Issue 3(2023) Page Start: 427 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Gene‐targeted therapies: Towards equitable development, diagnosis, and access. Issue 1 (23rd January 2023) Authors: Gaviglio, Amy M.; Skinner, Mark W.; Lou, Lily J.; Finkel, Richard S.; Augustine, Erika F.; Goldenberg, Aaron J. Other Names: Urv Tiina guestEditor.; Parisi Melissa guestEditor. Journal: American journal of medical genetics Issue: Volume 193:Issue 1(2023) Page Start: 56 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗