E-LIB Suche - Ergebnisse für: Zolkipli-Cunningham, Zarazuela

1

Beyond Contractures in Spinal Muscular Atrophy: Identifying..:

Harding, Elizabeth R. ; Kanner, Cara H. ; Pasternak, Amy...
Journal of Clinical Medicine. 13 (2024) 9 - p. 2634 , 2024

Link: https://doi.org/10.3390/..

2

Disease Trajectories in the Revised Hammersmith Scale in a ..:

Wolfe, Amy ; Stimpson, Georgia ; Ramsey, Danielle...
Journal of Neuromuscular Diseases. 11 (2024) 3 - p. 665-677 , 2024

Link: https://doi.org/10.3233/..

3

Changes in abilities over the initial 12 months of nusiners..:

Coratti, Giorgia ; Civitello, Matthew ; Rohwer, Annemarie...
Neuromuscular Disorders. 41 (2024) - p. 42-50 , 2024

Link: https://doi.org/10.1016/..

4

Bridging the clinical-research gap: Harnessing an electroni..:

MacMullen, Laura E. ; George-Sankoh, Ibrahim ; Stanley, Katelynn...
Molecular Genetics and Metabolism. 142 (2024) 1 - p. 108348 , 2024

Link: https://doi.org/10.1016/..

5

Optimized Nutrition in Mitochondrial Disease Correlates to ..:

DiVito, Donna ; Wellik, Amanda ; Burfield, Jessica...
Neurotherapeutics. 20 (2023) 6 - p. 1723-1745 , 2023

Link: https://doi.org/10.1007/..

6

258th ENMC international workshop Leigh syndrome spectrum: ..:

Diodato, Daria ; Schiff, Manuel ; Cohen, Bruce H....
Neuromuscular Disorders. 33 (2023) 8 - p. 700-709 , 2023

Link: https://doi.org/10.1016/..

7

P581: Multiple mitochondrial DNA deletions in patients with..:

Wang, Jing ; Chan, Ada ; Peterson, James...
Genetics in Medicine Open. 1 (2023) 1 - p. 100628 , 2023

Link: https://doi.org/10.1016/..

8

2-Year Change in Revised Hammersmith Scale Scores in a Larg..:

Stimpson, Georgia ; Ramsey, Danielle ; Wolfe, Amy...
Journal of Clinical Medicine. 12 (2023) 5 - p. 1920 , 2023

Link: https://doi.org/10.3390/..

9

Advanced approach for comprehensive mtDNA genome testing in..:

Wang, Jing ; Balciuniene, Jorune ; Diaz-Miranda, Maria Alejandra...
Molecular Genetics and Metabolism. 135 (2022) 1 - p. 93-101 , 2022

Link: https://doi.org/10.1016/..

10

Pathogenic mtDNA variants, in particular single large-scale..:

Elander, Johanna ; McCormick, Elizabeth M. ; Värendh, Maria...
Molecular Genetics and Metabolism. 137 (2022) 3 - p. 230-238 , 2022

Link: https://doi.org/10.1016/..

11

Nusinersen Treatment in Adults With Spinal Muscular Atrophy:

Duong, Tina ; Wolford, Connie ; McDermott, Michael P....
Neurology Clinical Practice. 11 (2021) 3 - p. , 2021

Link: https://doi.org/10.1212/..

12

Metabolic and behavioral features of acute hyperpurinergia ..:

Zolkipli-Cunningham, Zarazuela ; Naviaux, Jane C. ; Nakayama, Tomohiro...
PLOS ONE. 16 (2021) 3 - p. e0248771 , 2021

Link: https://doi.org/10.1371/..

13

Safety and efficacy of omaveloxolone in patients with mitoc..:

Madsen, Karen L. ; Buch, Astrid E. ; Cohen, Bruce H....
Neurology. 94 (2020) 7 - p. , 2020

Link: https://doi.org/10.1212/..

14

Contributors:

, In: Mitochondrial Disease Genes Compendium,

de Barcelos, Isabella Peixoto ; Falk, Marni J. ; Gai, Xiaowu... - p. xiii-xiv , 2020

Link: https://doi.org/10.1016/..

15

MT-ATP6mitochondrial disease variants: Phenotypic and bioch..:

Ganetzky, Rebecca D. ; Stendel, Claudia ; McCormick, Elizabeth M....
Human Mutation. 40 (2019) 5 - p. 499-515 , 2019

Link: https://doi.org/10.1002/..