E-LIB Suche - Ergebnisse für: Rupar, C. Anthony

1

Long-term follow-up of an attenuated presentation of NAXE-r..:

Almudhry, Montaha ; Prasad, Chitra ; Rupar, C. Anthony..
Frontiers in Neurology. 15 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

2

Methylmalonic aciduria as a biochemical marker for mitochon..:

Almudhry, Montaha ; Saini, Arushi Gahlot ; Al-Omari, Mohammed A....
Frontiers in Neurology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

3

A milder form of molybdenum cofactor deficiency type A pres..:

Almudhry, Montaha ; Prasad, Asuri N. ; Rupar, C. Anthony...
Frontiers in Neurology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

4

Persistent hematopoietic polyclonality after lentivirus-med..:

Saleh, Amr H. ; Rothe, Michael ; Barber, Dwayne L....
Molecular Therapy - Methods & Clinical Development. 28 (2023) - p. 262-271 , 2023

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

5

Autologous, lentivirus‐modified, T‐rapa cell "micropharmaci..:

Nagree, Murtaza S ; Felizardo, Tania C ; Faber, Mary L...
EMBO Molecular Medicine. 14 (2022) 4 - p. , 2022

Link: https://doi.org/10.15252..

6

Pitfalls in Genetic Testing for Consanguineous Pediatric Po..:

Saleh, Maha ; Colaiacovo, Samantha ; Napier, Melanie P....
Case Reports in Genetics. 2022 (2022) - p. 1-3 , 2022

Link: https://doi.org/10.1155/..

7

Expanding the phenotypic and molecular spectrum ofNFS1‐rela..:

Yang, Jennifer H. ; Friederich, Marisa W. ; Ellsworth, Katarzyna A....
Human Mutation. 43 (2022) 3 - p. 305-315 , 2022

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

8

Lentivirus-mediated gene therapy for Fabry disease:

Khan, Aneal ; Barber, Dwayne L. ; Huang, Ju...
Nature Communications. 12 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

9

AAV9-hARSA decreases sulfatide accumulation in the agedmous..:

Newman, Stephanie K. ; Rupar, C. Anthony
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S76-S77 , 2021

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

10

An Unexpected Finding of Hepatosplenomegaly in a Pediatric ..:

Barootes, Hailey C. ; Prasad, Chitra ; Rupar, C. Anthony.
Clinical Pediatrics. 61 (2021) 1 - p. 81-85 , 2021

Link: https://doi.org/10.1177/..

11

Symptomatic mosaicism for a novel FBN1 splice site variant ..:

Postma, Julianne K. ; Altamirano‐Diaz, Luis ; Rupar, C. Anthony.
American Journal of Medical Genetics Part A. 185 (2021) 8 - p. 2507-2513 , 2021

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

12

Bone marrow‐derived mitochondrial DNA has limited capacity ..:

Tarnopolsky, Mark A. ; Kerkhof, Jennifer ; Stuart, Alan...
The FASEB Journal. 34 (2020) 7 - p. 9297-9306 , 2020

Link: https://doi.org/10.1096/..

13

Health Care for Mitochondrial Disorders in Canada: A Survey..:

Paik, Karen ; Lines, Matthew A. ; Chakraborty, Pranesh...
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 46 (2019) 6 - p. 717-726 , 2019

Link: https://doi.org/10.1017/..

14

Complete elimination of a pathogenic homoplasmic mtDNA muta..:

Brady, Lauren ; Sadikovic, Bekim ; Rupar, C. Anthony.
Mitochondrion. 45 (2019) - p. 18-21 , 2019

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

15

Use of complementary and alternative medicine in patients w..:

Tao, Jessica ; Rupar, C. Anthony ; Miller, Michael R...
JIMD Reports. 51 (2019) 1 - p. 105-112 , 2019

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