1. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Issue 2 (25th November 2019) Authors: Ngo, Kathie J.; Rexach, Jessica E.; Lee, Hane; Petty, Lauren E.; Perlman, Susan; Valera, Juliana M.; Deignan, Joshua L.; Mao, Yuanming; Aker, Mamdouh; Posey, Jennifer E.; Jhangiani, Shalini N.; Coban‐Akdemir, Zeynep H.; Boerwinkle, Eric; Muzny, Donna; Nelson, Alexandra B.; Hassin‐Baer, Sharon; Po... Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 487 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Baseline Clinical and Blood Biomarker in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3. (25th April 2023) Authors: Tezenas du Montcel, Sophie; Petit, Emilien; Olubajo, Titilayo; Faber, Jennifer; Lallemant-Dudek, Pauline; Bushara, Khalaf; Perlman, Susan; Subramony, Sub H.; Morgan, David; Jackman, Brianna; Paulson, Henry Lauris; Öz, Gülin; Klockgether, Thomas; Durr, Alexandra; Ashizawa, Tetsuo Journal: Neurology Issue: Volume 100:Number 17(2023) Page Start: e1836 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3. (25th April 2023) Authors: Tezenas du Montcel, Sophie; Petit, Emilien; Olubajo, Titilayo; Faber, Jennifer; Lallemant-Dudek, Pauline; Bushara, Khalaf; Perlman, Susan; Subramony, Sub H.; Morgan, David; Jackman, Brianna; Paulson, Henry Lauris; Öz, Gülin; Klockgether, Thomas; Durr, Alexandra; Ashizawa, Tetsuo Journal: Neurology Issue: Volume 100:Number 17(2023) Page Start: e1836 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias. Issue 3 (29th November 2017) Authors: Figueroa, Karla P.; Gan, Shi‐Rui; Perlman, Susan; Wilmot, George; Gomez, Christopher M.; Schmahmann, Jeremy; Paulson, Henry; Shakkottai, Vikram G.; Ying, Sarah H.; Zesiewicz, Theresa; Bushara, Khalaf; Geschwind, Michael; Xia, Guangbin; Subramony, S. H.; Ashizawa, Tetsuo; Pulst, Stefan M.; Kuo, Sh... Journal: Movement disorders Issue: Volume 33:Issue 3(2018) Page Start: 497 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical Evaluation of Eye Movements in Spinocerebellar Ataxias: A Prospective Multicenter Study. Issue 1 (March 2015) Authors: Moscovich, M.; Okun, Michael S.; Favilla, Chris; Figueroa, Karla P.; Pulst, Stefan M.; Perlman, Susan; Wilmot, George; Gomez, Christopher; Schmahmann, Jeremy; Paulson, Henry; Shakkottai, Vikram; Ying, Sarah; Zesiewicz, Theresa; Kuo, S. H.; Mazzoni, P.; Bushara, Khalaf; Xia, Guangbin; Ashizawa, Te... Journal: Journal of neuro-ophthalmology Issue: Volume 35:Issue 1(2015:Mar.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Coenzyme Q10 and spinocerebellar ataxias. Issue 2 (1st December 2014) Authors: Lo, Raymond Y.; Figueroa, Karla P.; Pulst, Stefan M.; Lin, Chi‐Ying; Perlman, Susan; Wilmot, George; Gomez, Christopher; Schmahmann, Jeremy; Paulson, Henry; Shakkottai, Vikram G.; Ying, Sarah; Zesiewicz, Theresa; Bushara, Khalaf; Geschwind, Michael; Xia, Guangbin; Subramony, S.H.; Ashizawa, Tetsu... Journal: Movement disorders Issue: Volume 30:Issue 2(2015) Page Start: 214 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Common data elements for clinical research in Friedreich's ataxia. Issue 2 (12th December 2012) Authors: Lynch, David R.; Pandolfo, Massimo; Schulz, Jorg B.; Perlman, Susan; Delatycki, Martin B.; Payne, R. Mark; Shaddy, Robert; Fischbeck, Kenneth H.; Farmer, Jennifer; Kantor, Paul; Raman, Subha V.; Hunegs, Lisa; Odenkirchen, Joanne; Miller, Kristy; Kaufmann, Petra Journal: Movement disorders Issue: Volume 28:Issue 2(2013) Page Start: 190 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia. (6th March 2018) Authors: Zesiewicz, Theresa A.; Wilmot, George; Kuo, Sheng-Han; Perlman, Susan; Greenstein, Patricia E.; Ying, Sarah H.; Ashizawa, Tetsuo; Subramony, S.H.; Schmahmann, Jeremy D.; Figueroa, K.P.; Mizusawa, Hidehiro; Schöls, Ludger; Shaw, Jessica D.; Dubinsky, Richard M.; Armstrong, Melissa J.; Gronseth, Ga... Journal: Neurology Issue: Volume 90:Number 10(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Depression and clinical progression in spinocerebellar ataxias. (January 2016) Authors: Lo, Raymond Y.; Figueroa, Karla P.; Pulst, Stefan M.; Perlman, Susan; Wilmot, George; Gomez, Christopher; Schmahmann, Jeremy; Paulson, Henry; Shakkottai, Vikram G.; Ying, Sarah; Zesiewicz, Theresa; Bushara, Khalaf; Geschwind, Michael; Xia, Guangbin; Yu, Jui-Tsen; Lee, Lue-En; Ashizawa, Tetsuo; Su... Journal: Parkinsonism & related disorders Issue: Volume 22(2016) Page Start: 87 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Double-blind, randomized and controlled trial of EPI-743 in Friedreich's ataxia. (August 2018) Authors: Zesiewicz, Theresa; Salemi, Jason L; Perlman, Susan; Sullivan, Kelly L; Shaw, Jessica D; Huang, Yangxin; Isaacs, Charles; Gooch, Clifton; Lynch, David R; Klein, Matthew B Journal: Neurodegenerative disease management Issue: Volume 8:Number 4(2018) Page Start: 233 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗