1. 087 An integrated neurogenomics clinic – 28-months experience and outcome of a tertiary referral centre. (23rd August 2021) Authors: McLean, Alison; Tchan, Michel; Devery, Sophie; Smyth, Renee; Kumar, Kishore; Tomlinson, Susan; Tisch, Stephen; Wu, Kathy Journal: BMJ neurology open Issue: Volume 3(2021) Supplement 1 Page Start: A32 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 128 Late-onset pompe disease (LOPD) presenting with fulminant hypercapnic respiratory failure. (29th July 2019) Authors: Edwards, Leon S; Tchan, Michel; Crossley, Kate M; Yee, Brendon; Spies, Judith M Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 90(2019)e7 Page Start: A41 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A patient with recurrent disabling atrial fibrillation and Fabry cardiomyopathy successfully treated with single ring pulmonary vein isolation. (1st March 2015) Authors: Qian, Pierre; Ross, David; Tchan, Michel; Sadick, Norman Journal: International journal of cardiology Issue: Volume 182(2015) Page Start: 375 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Adenine phosphoribosyltransferase deficiency as a cause of renal failure. (June 2015) Authors: Sharma, Ankit; Jayaballa, Mathini; Ng, Thomas; Tchan, Michel; Vucak‐Dzumhur, Mirna Journal: Nephrology Issue: Volume 20:Number 6(2015) Page Start: 439 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series. Issue 1 (December 2016) Authors: Horovitz, Dafne Dain Gandelman; Acosta, Angelina; Giugliani, Roberto; Hlavatá, Anna; Hlavatá, Katarína; Tchan, Michel; Lopes Barth, Anneliese; Cardoso, Laercio; Embiruçu de Araújo Leão, Emília Katiane; Esposito, Ana; Kyosen, Sandra; De Souza, Carolina; Martins, Ana 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) ↗
6. ATP1A3‐Related Relapsing Encephalopathy with Cerebellar Ataxia (RECA): A Genetic Disorder with an Inflammatory Basis?. Issue 8 (30th September 2022) Authors: Martin, Andrew J.; Ong, Tien‐Lee; Briceno‐Morales, Hugo; Tchan, Michel; Fung, Victor S.C. Journal: Movement disorders clinical practice Issue: Volume 9:Issue 8(2022) Page Start: 1120 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement. Issue 1 (1st October 2021) Authors: Zech, Michael; Kumar, Kishore R.; Reining, Sophie; Reunert, Janine; Tchan, Michel; Riley, Lisa G.; Drew, Alexander P.; Adam, Robert J.; Berutti, Riccardo; Biskup, Saskia; Derive, Nicolas; Bakhtiari, Somayeh; Jin, Sheng Chih; Kruer, Michael C.; Bardakjian, Tanya; Gonzalez‐Alegre, Pedro; Keller Sar... Journal: Movement disorders Issue: Volume 37:Issue 1(2022) Page Start: 137 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Cardiac Phenotype of Prehypertrophic Fabry Disease. (June 2018) Authors: Nordin, Sabrina; Kozor, Rebecca; Baig, Shanat; Abdel-Gadir, Amna; Medina-Menacho, Katia; Rosmini, Stefania; Captur, Gabriella; Tchan, Michel; Geberhiwot, Tarekegn; Murphy, Elaine; Lachmann, Robin; Ramaswami, Uma; Edwards, Nicola C.; Hughes, Derralynn; Steeds, Richard P.; Moon, James C. Journal: Circulation Issue: Volume 11:Number 6(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Expanded newborn screening in New South Wales: missed cases. Issue 6 (27th June 2014) Authors: Estrella, Jane; Wilcken, Bridget; Carpenter, Kevin; Bhattacharya, Kaustuv; Tchan, Michel; Wiley, Veronica Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 6(2014) Page Start: 881 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia. (23rd February 2023) Authors: Massey, Sean; Guo, Yiran; Riley, Lisa G.; Van Bergen, Nicole J.; Sandaradura, Sarah A.; McCusker, Elizabeth; Tchan, Michel; Thauvin-Robinet, Christel; Thomas, Quentin; Moreau, Thibault; Davis, Mark; Smits, Daphne; Mancini, Grazia M.S.; Hakonarson, Hakon; Cooper, Sandra; Christodoulou, John Journal: Neurology Issue: Volume 9:Number 1(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗