131. Biallelic ZNF335 mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy. (2nd January 2021) Authors: Caglayan, Ahmet Okay; Yaghouti, Kourosh; Kockaya, Tanyel; Kemer, Demet; Cankaya, Tufan; Ameziane, Najim; Cogulu, Ozgur; Coker, Mahmut; Yalcinkaya, Cengiz Journal: Journal of neurogenetics Issue: Volume 35:Number 1(2021) Page Start: 23 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
132. Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis. (December 2020) Authors: Radelfahr, Florentine; Riedhammer, Korbinian M.; Keidel, Leonie F.; Gramer, Gwendolyn; Meitinger, Thomas; Klopstock, Thomas; Wagner, Matias Journal: Neurology Issue: Volume 6:Number 6(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
133. BK channels and a cGMP-dependent protein kinase (PKG) function through independent mechanisms to regulate the tolerance of synaptic transmission to acute oxidative stress at the Drosophila larval neuromuscular junction. (3rd July 2018) Authors: Bollinger, Wesley L.; Sial, Nadia; Dawson-Scully, Ken Journal: Journal of neurogenetics Issue: Volume 32:Number 3(2018) Page Start: 246 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
134. Blended phenotype of adult-onset Alexander disease and spinocerebellar ataxia type 6. (December 2020) Authors: Odo, Takashi; Okamoto, Tomoko; Sato, Noriko; Takahashi, Yuji Journal: Neurology Issue: Volume 6:Number 6(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
135. Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy. (23rd December 2022) Authors: Kunta, Avaneesh R.; Jueng, Jeremy; Jordan, Catherine; Kojic, Jasna; Mo, Alisa; Ebrahimi-Fakhari, Darius Journal: Neurology Issue: Volume 8:Number 6(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
136. Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. (February 2021) Authors: Ziegler, Marvin; Russell, Bianca E.; Eberhardt, Kathrin; Geisel, Gregory; D'Amore, Angelica; Sahin, Mustafa; Kornblum, Harley I.; Ebrahimi-Fakhari, Darius Journal: Neurology Issue: Volume 7:Number 1(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
137. Body Mass Index and Height in Friedreich Ataxia: What Do We Know?. (12th December 2021) Authors: Boesch, Sylvia M.; Indelicato, Elisabetta Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
138. Body Mass Index and Height in Friedreich Ataxia: What Do We Know?. (December 2021) Authors: Boesch, Sylvia M.; Indelicato, Elisabetta Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
139. Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study. (12th December 2021) Authors: Patel, Maya; McCormick, Ashley; Tamaroff, Jaclyn; Dunn, Julia; Mitchell, Jonathan A.; Lin, Kimberly Y.; Farmer, Jennifer; Rummey, Christian; Perlman, Susan L.; Delatycki, Martin B.; Wilmot, George R.; Mathews, Katherine D.; Yoon, Grace; Hoyle, Joseph; Corti, Manuela; Subramony, S.H.; Zesiewicz, T... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
140. Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study. (December 2021) Authors: Patel, Maya; McCormick, Ashley; Tamaroff, Jaclyn; Dunn, Julia; Mitchell, Jonathan A.; Lin, Kimberly Y.; Farmer, Jennifer; Rummey, Christian; Perlman, Susan L.; Delatycki, Martin B.; Wilmot, George R.; Mathews, Katherine D.; Yoon, Grace; Hoyle, Joseph; Corti, Manuela; Subramony, S.H.; Zesiewicz, T... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗