E-LIB Suche - Ergebnisse für: Chinnery, P. F.

1

Neuropathological and biochemical investigation of Heredita..:

Kurzawa‐Akanbi, M. ; Keogh, M. ; Tsefou, E....
Neuropathology and Applied Neurobiology. 47 (2020) 1 - p. 26-42 , 2020

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

2

Inheritance of mitochondrial DNA in humans: implications fo..:

Wei, W. ; Chinnery, P. F.
Journal of Internal Medicine. 287 (2020) 6 - p. 634-644 , 2020

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

3

Correction: Mitochondrial oxodicarboxylate carrier deficien..:

Boczonadi, V. ; King, M.S. ; Smith, A.C....
Genetics in Medicine. 21 (2019) 9 - p. 2163-2164 , 2019

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

4

mtDNA polymorphic variants as metabolic hubs:

Gomez-Duran, A. ; Xu, Y. ; Golder, Z....
Neuromuscular Disorders. 28 (2018) - p. S35-S36 , 2018

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

5

Understanding the mechanism underpinning the transmission o..:

Pezet, M. ; Gomez-Duran, A. ; Aryaman, J...
Neuromuscular Disorders. 28 (2018) - p. S35 , 2018

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

6

Investigating the mechanisms involved in germline transmiss..:

Burr, S.P. ; Floros, V.I. ; Gottgens, B..
Neuromuscular Disorders. 28 (2018) - p. S36 , 2018

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

7

The pattern of retinal ganglion cell dysfunction in Leber h..:

Majander, A. ; Robson, A.G. ; João, C....
Mitochondrion. 36 (2017) - p. 138-149 , 2017

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

8

A feasibility study of bezafibrate in mitochondrial myopath:

Steele, H.E. ; Newman, J. ; Jakovljevic, D.G....
Neuromuscular Disorders. 27 (2017) - p. S18 , 2017

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

9

Exome sequencing in dementia with Lewy bodies:

Keogh, M J ; Kurzawa-Akanbi, M ; Griffin, H...
Translational Psychiatry. 6 (2016) 2 - p. e728-e728 , 2016

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

10

Voxel-based analysis in neuroferritinopathy expands the phe..:

Keogh, M. J. ; Aribisala, B. S. ; He, J....
Journal of Neurology. 262 (2015) 10 - p. 2232-2240 , 2015

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

11

Frequency of rare recessive mutations in unexplained late o..:

Keogh, M. J. ; Steele, H. ; Douroudis, K....
Journal of Neurology. 262 (2015) 8 - p. 1822-1827 , 2015

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

12

OP41 – 2848: Aminoacyl-tRNA synthetases (ARS) related inher..:

Bansagi, B. ; Pyle, A. ; Griffin, H....
European Journal of Paediatric Neurology. 19 (2015) - p. S14 , 2015

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

13

P69 Old dicta and new techniques:

Lewis-Smith, D.J. ; Griffin, H. ; Polvikoski, T....
Neuromuscular Disorders. 24 (2014) - p. S25 , 2014

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

14

P29 Behr's syndrome is a mitochondrial disease due to autos..:

Pyle, A. ; Venkateswaran, R. ; Bartsakoulia, M....
Neuromuscular Disorders. 24 (2014) - p. S14 , 2014

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

15

G.P.157:

Childs, A.M. ; Pysden, K. ; Roper, H....
Neuromuscular Disorders. 24 (2014) 9-10 - p. 848-849 , 2014

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