1. A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia. (29th August 2020) Authors: Robbins, Nathaniel M.; Ozmore, Jillian R.; Winder, Thomas L.; Gonzalez-Alegre, Pedro; Bardakjian, Tanya M. Other Names: Toft Mathias Academic Editor. Journal: Case reports in neurological medicine Issue: Volume 2020(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Anticholinesterase Therapy Worsening Head Drop and Limb Weakness Due to a Novel DOK7 Mutation. Issue 2 (December 2015) Authors: Lozowska, Dominika; Ringel, Steven P.; Winder, Thomas L.; Liu, Jie; Liewluck, Teerin Journal: Journal of clinical neuromuscular disease Issue: Volume 17:Issue 2(2015:Dec.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Centronuclear myopathy with cardiomyopathy due to recessive titinopathy. Issue 4 (12th February 2019) Authors: Martinez‐Thompson, Jennifer M.; Winder, Thomas L.; Liewluck, Teerin Journal: Muscle & nerve Issue: Volume 59:Issue 4(2019) Page Start: E26 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical utility of multigene analysis in over 25, 000 patients with neuromuscular disorders. (April 2020) Authors: Winder, Thomas L.; Tan, Christopher A.; Klemm, Sarah; White, Hannah; Westbrook, Jody M.; Wang, James Z.; Entezam, Ali; Truty, Rebecca; Nussbaum, Robert L.; McNally, Elizabeth M.; Aradhya, Swaroop Journal: Neurology Issue: Volume 6:Number 2(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Dominant collagen XII mutations cause a distal myopathy. Issue 10 (11th September 2019) Authors: Mohassel, Payam; Liewluck, Teerin; Hu, Ying; Ezzo, Daniel; Ogata, Tracy; Saade, Dimah; Neuhaus, Sarah; Bolduc, Véronique; Zou, Yaqun; Donkervoort, Sandra; Medne, Livija; Sumner, Charlotte J.; Dyck, P. James B.; Wierenga, Klaas J.; Tennekoon, Gihan; Finkel, Richard S.; Chen, Jiani; Winder, Thomas ... Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 10(2019) Page Start: 1980 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. GMPPB‐Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. Issue 12 (23rd September 2015) Authors: Jensen, Braden S.; Willer, Tobias; Saade, Dimah N.; Cox, Mary O.; Mozaffar, Tahseen; Scavina, Mena; Stefans, Vikki A.; Winder, Thomas L.; Campbell, Kevin P.; Moore, Steven A.; Mathews, Katherine D. Journal: Human mutation Issue: Volume 36:Issue 12(2015:Dec.) Page Start: 1159 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype. (7th April 2015) Authors: Bharucha-Goebel, Diana X.; Neil, Erin; Donkervoort, Sandra; Dastgir, Jahannaz; Wiggs, Edythe; Winder, Thomas L.; Moore, Steven A.; Iannaccone, Susan T.; Bönnemann, Carsten G. Journal: Neurology Issue: Volume 84:Number 14(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin‐α2 variome and its related phenotypes. Issue 10 (10th August 2018) Authors: Oliveira, Jorge; Gruber, Angela; Cardoso, Márcio; Taipa, Ricardo; Fineza, Isabel; Gonçalves, Ana; Laner, Andreas; Winder, Thomas L.; Schroeder, Jocelyn; Rath, Julie; Oliveira, Márcia E.; Vieira, Emília; Sousa, Ana Paula; Vieira, José Pedro; Lourenço, Teresa; Almendra, Luciano; Negrão, Luís; Santo... Journal: Human mutation Issue: Volume 39:Issue 10(2018) Page Start: 1314 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability. Issue 1 (January 2015) Authors: Donkervoort, Sandra; Hu, Ying; Stojkovic, Tanya; Voermans, Nicol C.; Foley, A. Reghan; Leach, Meganne E.; Dastgir, Jahannaz; Bolduc, Véronique; Cullup, Thomas; de Becdelièvre, Alix; Yang, Lin; Su, Hai; Meilleur, Katherine; Schindler, Alice B.; Kamsteeg, Erik‐Jan; Richard, Pascale; Butterfield, Ru... Journal: Human mutation Issue: Volume 36:Issue 1(2015:Jan.) Page Start: 48 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies. Issue 12 (December 2014) Authors: Lehtokari, Vilma‐Lotta; Kiiski, Kirsi; Sandaradura, Sarah A.; Laporte, Jocelyn; Repo, Pauliina; Frey, Jennifer A.; Donner, Kati; Marttila, Minttu; Saunders, Carol; Barth, Peter G.; den Dunnen, Johan T.; Beggs, Alan H.; Clarke, Nigel F.; North, Kathryn N.; Laing, Nigel G.; Romero, Norma B.; Winder... Journal: Human mutation Issue: Volume 35:Issue 12(2014:Dec.) Page Start: 1418 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗