Search

Author/Creator Markello, Thomas C.

1. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. (August 2018)

Authors:
Machol, Keren; Jankovic, Joseph; Vijayakumar, Dhanya; Burrage, Lindsay C.; Jain, Mahim; Lewis, Richard A.; Fuller, Gregory N.; Xu, Mingchu; Penas-Prado, Marta; Gule-Monroe, Maria K.; Rosenfeld, Jill A.; Chen, Rui; Eng, Christine M.; Yang, Yaping; Lee, Brendan H.; Moretti, Paolo M.; Dhar, Shweta U...
Journal:
Neurology
Issue:
Volume 4:Number 4(2018)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Compound heterozygosity for loss‐of‐function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation. Issue 10 (14th July 2017)

Authors:
Oprescu, Stephanie N.; Chepa‐Lotrea, Xenia; Takase, Ryuichi; Golas, Gretchen; Markello, Thomas C.; Adams, David R.; Toro, Camilo; Gropman, Andrea L.; Hou, Ya‐Ming; Malicdan, May Christine V.; Gahl, William A.; Tifft, Cynthia J.; Antonellis, Anthony
Journal:
Human mutation
Issue:
Volume 38:Issue 10(2017)
Page Start:
1412
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy. (3rd April 2021)

Authors:
Burke, Elizabeth A.; Sturgeon, Morgan; Zastrow, Diane B.; Fernandez, Liliana; Prybol, Cameron; Marwaha, Shruti; Frothingham, Edward P.; Ward, Patricia A.; Eng, Christine M.; Fresard, Laure; Montgomery, Stephen B.; Enns, Gregory M.; Fisher, Paul G.; Wolfe, Lynne A.; Harding, Brian; Carrington, Bla...
Journal:
Journal of neurogenetics
Issue:
Volume 35:Number 2(2021)
Page Start:
74
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Cover Image, Volume 38, Issue 10. Issue 10 (14th September 2017)

Authors:
Oprescu, Stephanie N.; Chepa‐Lotrea, Xenia; Takase, Ryuichi; Golas, Gretchen; Markello, Thomas C.; Adams, David R.; Toro, Camilo; Gropman, Andrea L.; Hou, Ya‐Ming; Malicdan, May Christine V.; Gahl, William A.; Tifft, Cynthia J.; Antonellis, Anthony
Journal:
Human mutation
Issue:
Volume 38:Issue 10(2017)
Page Start:
i
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect. Issue 5 (8th November 2018)

Authors:
Metz, Kyle A.; Teng, Xinchen; Coppens, Isabelle; Lamb, Heather M.; Wagner, Bart E.; Rosenfeld, Jill A.; Chen, Xianghui; Zhang, Yu; Kim, Hee Jong; Meadow, Michael E.; Wang, Tim Sen; Haberlandt, Edda D.; Anderson, Glenn W.; Leshinsky‐Silver, Esther; Bi, Weimin; Markello, Thomas C.; Pratt, Marsha; M...
Journal:
Annals of neurology
Issue:
Volume 84:Issue 5(2018)
Page Start:
766
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. MED23‐associated intellectual disability in a non‐consanguineous family. (2nd April 2015)

Authors:
Trehan, Aditi; Brady, Jacqueline M.; Maduro, Valerie; Bone, William P.; Huang, Yan; Golas, Gretchen A.; Kane, Megan S.; Lee, Paul R.; Thurm, Audrey; Gropman, Andrea L.; Paul, Scott M.; Vezina, Gilbert; Markello, Thomas C.; Gahl, William A.; Boerkoel, Cornelius F.; Tifft, Cynthia J.
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 6(2015:Jun.)
Page Start:
1374
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗