E-LIB Suche - Ergebnisse für: McFarland, Robert

1

Clinical, biochemical, and genetic spectrum of MADD in a So..:

Bisschoff, Michelle ; Smuts, Izelle ; Dercksen, Marli...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

2

De novo variants in RNF213 are associated with a clinical s..:

Brunet, Theresa ; Zott, Benedikt ; Lieftüchter, Victoria...
Genetics in Medicine. 26 (2024) 2 - p. 101013 , 2024

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

3

Digenic Leigh syndrome on the background of the m.11778G>A ..:

Blickhäuser, Beryll ; Stenton, Sarah L ; Neuhofer, Christiane M...
Brain. 147 (2024) 6 - p. 1967-1974 , 2024

Link: https://doi.org/10.1093/..

4

Astrocytic pathology in Alpers' syndrome:

Smith, Laura A ; Chen, Chun ; Lax, Nichola Z...
Acta Neuropathologica Communications. 11 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

5

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/..

6

Review of mortality data in mitochondrial disease over 12 y..:

Moe, Aye ; Gorman, Grainne ; Mcfarland, Robert.
Journal of the Neurological Sciences. 455 (2023) - p. 121696 , 2023

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

7

Pathological variants in TOP3A cause distinct disorders of ..:

Erdinc, Direnis ; Rodríguez‐Luis, Alejandro ; Fassad, Mahmoud R...
EMBO Molecular Medicine. 15 (2023) 5 - p. , 2023

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

8

Mitochondrial encephalomyopathy:

, In: Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders; Handbook of Clinical Neurology,

Ng, Yi Shiau ; McFarland, Robert - p. 563-585 , 2023

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

9

Model systems informing mechanisms and drug discovery: a sy..:

Meyrick, Jonathan ; Stefanetti, Renae J ; Errington, Linda...
Wellcome Open Research. 8 (2023) - p. 33 , 2023

Link: https://doi.org/10.12688..

10

Biallelic variants in TAMM41 are associated with low muscle..:

Thompson, Kyle ; Bianchi, Lucas ; Rastelli, Francesca...
Human Genetics and Genomics Advances. 3 (2022) 2 - p. 100097 , 2022

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

11

Mitochondrial respiratory chain dysfunction in a patient wi..:

Wong, Wui‐Kwan ; Balasubramaniam, Shanti ; Wong, Rachel S. H....
JIMD Reports. 63 (2022) 6 - p. 546-554 , 2022

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

12

Delineating selective vulnerability of inhibitory interneur..:

Smith, Laura A. ; Erskine, Daniel ; Blain, Alasdair...
Neuropathology and Applied Neurobiology. 48 (2022) 6 - p. , 2022

Link: https://doi.org/10.1111/..

13

Phase II Feasibility Study of the Efficacy, Tolerability, a..:

Houghton, David ; Ng, Yi Shiau ; Jackson, Matthew A....
Gastro Hep Advances. 1 (2022) 4 - p. 666-677 , 2022

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

14

Acipimox in Mitochondrial Myopathy (AIMM): study protocol f..:

The AIMM Trial Group: ; Abouhajar, Alaa ; Alcock, Lisa...
Trials. 23 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

15

Identification and characterization of novel MPC1 gene vari..:

Jiang, Huafang ; Alahmad, Ahmad ; Fu, Song...
Journal of Inherited Metabolic Disease. 45 (2022) 2 - p. 264-277 , 2022

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