1. A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease. (15th September 2015) Authors: Beraldi, Rosanna; Chan, Chun-Hung; Rogers, Christopher S.; Kovács, Attila D.; Meyerholz, David K.; Trantzas, Constantin; Lambertz, Allyn M.; Darbro, Benjamin W.; Weber, Krystal L.; White, Katherine A.M.; Rheeden, Richard V.; Kruer, Michael C.; Dacken, Brian A.; Wang, Xiao-Jun; Davis, Bryan T.; Ro... Journal: Human molecular genetics Issue: Volume 24:Number 22(2015:Nov. 15) Page Start: 6473 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Scale to Assess Activities of Daily Living in Pantothenate Kinase‐Associated Neurodegeneration. Issue 2 (22nd January 2019) Authors: Marshall, Randall D.; Collins, Abigail; Escolar, Maria L.; Jinnah, H.A.; Klopstock, Thomas; Kruer, Michael C.; Videnovic, Aleksandar; Robichaux‐Viehoever, Amy; Swett, Laura; Revicki, Dennis A.; Bender, Randall H.; Lenderking, William R. Journal: Movement disorders clinical practice Issue: Volume 6:Issue 2(2019) Page Start: 139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Adults with Cerebral Palsy Require Ongoing Neurologic Care: A Systematic Review. Issue 5 (26th February 2021) Authors: Smith, Sarah E.; Gannotti, Mary; Hurvitz, Edward A.; Jensen, Frances E.; Krach, Linda E.; Kruer, Michael C.; Msall, Michael E.; Noritz, Garey; Rajan, Deepa S.; Aravamuthan, Bhooma R. Journal: Annals of neurology Issue: Volume 89:Issue 5(2021) Page Start: 860 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. Issue 4 (26th March 2021) Authors: Alsharhan, Hind; He, Miao; Edmondson, Andrew C.; Daniel, Earnest J. P.; Chen, Jie; Donald, Tyhiesia; Bakhtiari, Somayeh; Amor, David J.; Jones, Elizabeth A.; Vassallo, Grace; Vincent, Marie; Cogné, Benjamin; Deb, Wallid; Werners, Arend H.; Jin, Sheng C.; Bilguvar, Kaya; Christodoulou, John; Webst... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 4(2021) Page Start: 1001 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Biallelic mutations of TBC1D24 in exercise‐induced paroxysmal dystonia. Issue 2 (10th January 2020) Authors: Steel, Dora; Heim, Jennifer; Kruer, Michael C.; Sanchis‐Juan, Alba; Raymond, Lucy F.; Eunson, Paul; Kurian, Manju A. Journal: Movement disorders Issue: Volume 35:Issue 2(2020) Page Start: 372 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Biallelic Mutations of TBC1D24 in Exercise‐Induced Paroxysmal Dystonia. Issue 2 (10th January 2020) Authors: Steel, Dora; Heim, Jennifer; Kruer, Michael C.; Sanchis‐Juan, Alba; Raymond, Lucy F.; Eunson, Paul; Kurian, Manju A. Journal: Movement disorders Issue: Volume 35:Issue 2(2020) Page Start: 372 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Issue 2 (28th May 2022) Authors: Calame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill V.; Sutton, V. Reid; E... Journal: Annals of neurology Issue: Volume 92:Issue 2(2022) Page Start: 304 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Cataplexy in Patients Harboring the KCNMA1 p.N999S Mutation. Issue 7 (21st August 2020) Authors: Heim, Jennifer; Vemuri, Anusha; Lewis, Sara; Guida, Brandon; Troester, Matthew; Keros, Sotirios; Meredith, Andrea; Kruer, Michael C. Journal: Movement disorders clinical practice Issue: Volume 7:Issue 7(2020) Page Start: 861 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. CNS Langerhans cell histiocytosis: Common hematopoietic origin for LCH‐associated neurodegeneration and mass lesions. Issue 12 (6th April 2018) Authors: McClain, Kenneth L.; Picarsic, Jennifer; Chakraborty, Rikhia; Zinn, Daniel; Lin, Howard; Abhyankar, Harshal; Scull, Brooks; Shih, Albert; Lim, Karen Phaik Har; Eckstein, Olive; Lubega, Joseph; Peters, Tricia L.; Olea, Walter; Burke, Thomas; Ahmed, Nabil; Hicks, M. John; Tran, Brandon; Jones, Jere... Journal: Cancer Issue: Volume 124:Issue 12(2018) Page Start: 2607 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗