11. Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO. Issue 4 (28th December 2019) Authors: Sewani, Maham; Nugent, Kimberly; Blackburn, Patrick R.; Tarnowski, Jessica M.; Hernandez‐Garcia, Andres; Amiel, Jeanne; Whalen, Sandra; Keren, Boris; Courtin, Thomas; Rosenfeld, Jill A.; Yang, Yaping; Patterson, Marc C.; Pichurin, Pavel; McLean, Scott D.; Scott, Daryl A. Journal: American journal of medical genetics Issue: Volume 182:Issue 4(2020) Page Start: 652 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. (October 2016) Authors: Millichap, John J.; Park, Kristen L.; Tsuchida, Tammy; Ben-Zeev, Bruria; Carmant, Lionel; Flamini, Robert; Joshi, Nishtha; Levisohn, Paul M.; Marsh, Eric; Nangia, Srishti; Narayanan, Vinodh; Ortiz-Gonzalez, Xilma R.; Patterson, Marc C.; Pearl, Phillip L.; Porter, Brenda; Ramsey, Keri; McGinnis, E... Journal: Neurology Issue: Volume 2:Number 5(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. LGI1 and CASPR2 neurological autoimmunity in children. Issue 3 (24th September 2018) Authors: López‐Chiriboga, A. Sebastian; Klein, Christopher; Zekeridou, Anastasia; McKeon, Andrew; Dubey, Divyanshu; Flanagan, Eoin P.; Lennon, Vanda A.; Tillema, Jan‐Mendelt; Wirrell, Elaine C.; Patterson, Marc C.; Gadoth, Avi; Aaen, J. Gregory; Brenton, J. Nicholas; Bui, Jonathan D.; Moen, Amanda; Otten,... Journal: Annals of neurology Issue: Volume 84:Issue 3(2018) Page Start: 473 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study. Issue 5 (8th May 2020) Authors: Patterson, Marc C.; Garver, William S.; Giugliani, Robert; Imrie, Jackie; Jahnova, Helena; Meaney, F John; Nadjar, Yann; Vanier, Marie T.; Moneuse, Patrick; Morand, Olivier; Rosenberg, Daniel; Schwierin, Barbara; Héron, Benedicte Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 5(2020) Page Start: 1060 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Lost in translation—Challenges in drug development for inherited metabolic diseases. Issue 3 (7th April 2022) Authors: Lachmann, Robin H.; Patterson, Marc C.; Sirrs, Sandra Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 3(2022) Page Start: 381 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. Niemann‐Pick type C Suspicion Index tool: analyses by age and association of manifestations. Issue 1 (21st June 2013) Authors: Wraith, James E.; Sedel, Frédéric; Pineda, Mercèdes; Wijburg, Frits A.; Hendriksz, Christian J.; Fahey, Michael; Walterfang, Mark; Patterson, Marc C.; Chadha‐Boreham, Harbajan; Kolb, Stefan A. Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 1(2014) Page Start: 93 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. Posterior reversible encephalopathy syndrome and hemorrhage associated with tacrolimus in a pediatric heart transplantation recipient. (17th January 2013) Authors: Loar, Robert W.; Patterson, Marc C.; O'Leary, Patrick W.; Driscoll, David J.; Johnson, Jonathan N. Journal: Pediatric transplantation Issue: Volume 17:Number 2(2013:Mar.) Page Start: E67 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. Preface. (February 2014) Authors: Patterson, Marc C. Journal: Journal of child neurology Issue: Volume 29:Number 2(2014:Feb.) Page Start: 159 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. Proton Magnetic Resonance Spectroscopy as a Probe into the Pathophysiology of Autism Spectrum Disorders (ASD): A Review. Issue 2 (21st February 2013) Authors: Baruth, Joshua M.; Wall, Christopher A.; Patterson, Marc C.; Port, John D. Journal: Autism research Issue: Volume 6:Issue 2(2013:Apr.) Page Start: 119 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry. (21st April 2019) Authors: Bonnot, Olivier; Gama, Clarissa S.; Mengel, Eugen; Pineda, Mercè; Vanier, Marie T.; Watson, Louise; Watissée, Marie; Schwierin, Barbara; Patterson, Marc C. Journal: World journal of biological psychiatry Issue: Volume 20:Number 4(2019) Page Start: 310 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗