1. Defining disability: development and validation of a mobility-Disability Severity Index (mDSI) in Charcot-Marie-tooth disease. Issue 6 (25th August 2014) Authors: Ramchandren, Sindhu; Shy, Michael; Feldman, Eva; Carlos, Ruth; Siskind, Carly Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 86:Issue 6(2015) Page Start: 635 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Genotype‐phenotype study and expansion of ARL6IP1‐related complicated hereditary spastic paraplegia. Issue 3 (13th November 2020) Authors: Cao, Ye; Manning, Melanie; Pope, Kathleen; He, Weimin; Vetrini, Francesco; Siskind, Carly; Rosenfeld, Jill A.; Yang, Yaping; Xiao, Rui Journal: Clinical genetics Issue: Volume 99:Issue 3(2021) Page Start: 477 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Myelin abnormality in Charcot–Marie–Tooth type 4J recapitulates features of acquired demyelination. Issue 4 (30th March 2018) Authors: Hu, Bo; McCollum, Megan; Ravi, Vignesh; Arpag, Sezgi; Moiseev, Daniel; Castoro, Ryan; Mobley, Bret; Burnette, Bryan; Siskind, Carly; Day, John; Yawn, Robin; Feely, Shawna; Li, Yuebing; Yan, Qing; Shy, Michael; Li, Jun Journal: Annals of neurology Issue: Volume 83:Issue 4(2018) Page Start: 756 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy. Issue 10 (20th August 2020) Authors: Rich, Kelly A.; Moscarello, Tia; Siskind, Carly; Brock, Guy; Tan, Christopher A.; Vatta, Matteo; Winder, Thomas L.; Elsheikh, Bakri; Vicini, Leah; Tucker, Brianna; Palettas, Marilly; Hershberger, Ray E.; Kissel, John T.; Morales, Ana; Roggenbuck, Jennifer Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 10(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗