1. A Loss‐of‐Function Variant in the Human Histidyl‐tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo. Issue 1 (11th October 2012) Authors: Vester, Aimée; Velez‐Ruiz, Gisselle; McLaughlin, Heather M.; NISC Comparative Sequencing Program, ; Lupski, James R.; Talbot, Kevin; Vance, Jeffery M.; Züchner, Stephan; Roda, Ricardo H.; Fischbeck, Kenneth H.; Biesecker, Leslie G.; Nicholson, Garth; Beg, Asim A.; Antonellis, Anthony Journal: Human mutation Issue: Volume 34:Issue 1(2013:Jan.) Page Start: 191 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss. Issue 4 (21st March 2017) Authors: Guinto, Cheick O.; Diarra, Salimata; Diallo, Salimata; Cissé, Lassana; Coulibaly, Thomas; Diallo, Seybou H.; Taméga, Abdoulaye; Chen, Ke‐Lian; Schindler, Alice B.; Bagayoko, Koumba; Simaga, Assiatou; Blackstone, Craig; Fischbeck, Kenneth H.; Landouré, Guida Journal: Annals of clinical and translational neurology Issue: Volume 4:Issue 4(2017) Page Start: 272 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A randomized controlled trial of exercise in spinal and bulbar muscular atrophy. Issue 7 (7th May 2015) Authors: Shrader, Joseph A.; Kats, Ilona; Kokkinis, Angela; Zampieri, Cris; Levy, Ellen; Joe, Galen O.; Woolstenhulme, Joshua G.; Drinkard, Bart E.; Smith, Michaele R.; Ching, Willie; Ghosh, Laboni; Fox, Derrick; Auh, Sungyoung; Schindler, Alice B.; Fischbeck, Kenneth H.; Grunseich, Christopher Journal: Annals of clinical and translational neurology Issue: Volume 2:Issue 7(2015:Jul.) Page Start: 739 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A role for androgen reduction treatment in kennedy disease?. Issue 6 (21st March 2013) Authors: Fischbeck, Kenneth H. Journal: Muscle & nerve Issue: Volume 47:Issue 6(2013:Jun.) Page Start: 789 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4. Issue 4 (28th January 2020) Authors: Grunseich, Christopher; Patankar, Aneesh; Amaya, Joshua; Watts, Jason A.; Li, Dongjun; Ramirez, Prisila; Schindler, Alice B.; Fischbeck, Kenneth H.; Cheung, Vivian G. Journal: Annals of neurology Issue: Volume 87:Issue 4(2020) Page Start: 547 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Combinatorial treatment for spinal muscular atrophy: An Editorial for 'Combined treatment with the histone deacetylase inhibitor LBH589 and a splice‐switch antisense oligonucleotide enhances SMN2 splicing and SMN expression in Spinal Muscular Atrophy cells' on page 264. Issue 2 (14th February 2020) Authors: Poletti, Angelo; Fischbeck, Kenneth H. Journal: Journal of neurochemistry Issue: Volume 153:Issue 2(2020) Page Start: 146 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. Dynamic Balance in Spinal and Bulbar Muscular Atrophy: Relationship between Strength and Performance of Forward Lunge, Step Up and Over, and Step Quick Turn. (23rd October 2021) Authors: Shrader, Joseph A.; Sansare, Ashwini; Shieh, Vincent; Woolstenhulme, Joshua G.; Rekant, Julie; Jiménez-Silva, Rafael; Joe, Galen O.; Kokkinis, Angela; Fischbeck, Kenneth H.; Grunseich, Christopher; Zampieri, Cristiane Other Names: Lim Jae-Young Academic Editor. Journal: Rehabilitation research and practice Issue: Volume 2021(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family. Issue 5 (24th March 2021) Authors: Cissé, Cheick A. K.; Cissé, Lassana; Ba, Hamidou O.; Samassékou, Oumar; Simaga, Assiatou; Taméga, Abdoulaye; Diarra, Salimata; Diallo, Seybou H.; Coulibaly, Thomas; Diallo, Salimata; Yalcouyé, Abdoulaye; Maiga, Alassane B.; Keita, Mohamed; Fischbeck, Kenneth H.; Traoré, Sékou F.; Guinto, Cheick O... Journal: Clinical case reports Issue: Volume 9:Issue 5(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Genetics and genomic medicine in Mali: challenges and future perspectives. Issue 2 (March 2016) Authors: Landouré, Guida; Samassékou, Oumar; Traoré, Mahamadou; Meilleur, Katherine G.; Guinto, Cheick Oumar; Burnett, Barrington G.; Sumner, Charlotte J.; Fischbeck, Kenneth H. Journal: Molecular genetics & genomic medicine Issue: Volume 4:Issue 2(2016) Page Start: 126 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗