I agree that this site is using cookies. You can find further informations here.
X
Poh, Roy
69  results:
Search for persons X
?
1

Whole genome sequencing increases the diagnostic rate in Ch..:

Record, Christopher J ; Pipis, Menelaos ; Skorupinska, Mariola...
Brain.  , 2024
Link: https://doi.org/10.1093/..
 
?
2

Digenic FLNA and UCHL1 variants resulting in a complex phen..:

Pernice, Helena F. ; O'Donnell, Luke F. ; Rossor, Alexander M....
Journal of the Peripheral Nervous System.  29 (2024)  1 - p. 111-115 , 2024
Link: https://doi.org/10.1111/..
 
?
3

Mutations in alpha‐B‐crystallin cause autosomal dominant ax..:

Cortese, Andrea ; Currò, Riccardo ; Ronco, Riccardo...
European Journal of Neurology.  31 (2023)  1 - p. , 2023
Link: https://doi.org/10.1111/..
 
?
4

Post-transcriptional microRNA repression of PMP22 dose in s..:

Pipis, Menelaos ; Won, Seongsik ; Poh, Roy...
Brain.  146 (2023)  10 - p. 4025-4032 , 2023
Link: https://doi.org/10.1093/..
 
?
5

Genetic analysis and natural history of Charcot-Marie-Tooth..:

Record, Christopher J ; Skorupinska, Mariola ; Laura, Matilde...
Brain.  146 (2023)  10 - p. 4336-4349 , 2023
Link: https://doi.org/10.1093/..
 
?
6

Expanding the FDXR-Associated Disease Phenotype: Retinal Dy..:

Jurkute, Neringa ; Shanmugarajah, Priya D. ; Hadjivassiliou, Marios...
Investigative Opthalmology & Visual Science.  62 (2021)  6 - p. 2 , 2021
Link: https://doi.org/10.1167/..
 
?
7

Charcot-Marie-Tooth disease type 2CC due toNEFHvariants cau..:

Pipis, Menelaos ; Cortese, Andrea ; Polke, James M...
Journal of Neurology, Neurosurgery & Psychiatry.  93 (2021)  1 - p. 48-56 , 2021
Link: https://doi.org/10.1136/..
 
?
8

Targeted next-generation sequencing panels in the diagnosis..:

Cortese, Andrea ; Wilcox, Janel E. ; Polke, James M....
Neurology.  94 (2020)  1 - p. , 2020
Link: https://doi.org/10.1212/..
 
?
9

Clinical, ophthalmological, imaging and genetic features in..:

Rezende Filho, Flávio Moura ; Parkinson, Michael H. ; Pedroso, José Luiz...
Parkinsonism & Related Disorders.  62 (2019)  - p. 148-155 , 2019
Link: https://doi.org/10.1016/..
 
?
10

Mutations in noncoding regions ofGJB1are a major cause of X..:

Tomaselli, Pedro J. ; Rossor, Alexander M. ; Horga, Alejandro...
Neurology.  88 (2017)  15 - p. 1445-1453 , 2017
Link: https://doi.org/10.1212/..
 
?
11

Semi-dominant mutations in MFN2-related neuropathy and impl..:

Tomaselli, Pedro J. ; Rossor, Alexander M. ; Polke, James M....
Journal of the Peripheral Nervous System.  21 (2016)  1 - p. 52-54 , 2016
Link: https://doi.org/10.1111/..
 
?
12

Structure and denaturation of 4-chlorobenzoyl coenzyme A de..:

Zhou, Lihong ; Poh, Roy P. C. ; Marks, Trevor S...
Biodegradation.  19 (2007)  1 - p. 65-75 , 2007
Link: https://doi.org/10.1007/..
 
?
13

The purification and characterisation of 4-chlorobenzoate:C..:

Zhou, Lihong ; Marks, Trevor S. ; Poh, Roy P. C....
Biodegradation.  15 (2004)  2 - p. 97-109 , 2004
Link: https://doi.org/10.1023/..
 
?
14

Post-transcriptional microRNA repression of PMP22 dose in s..:

Pipis, Menelaos ; Won, Seongsik ; Poh, Roy...
https://discovery.ucl.ac.uk/id/eprint/10175741/1/awad203.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
?
15

Mutations in alpha-B-crystallin cause autosomal dominant ax..:

Cortese, Andrea ; Currò, Riccardo ; Ronco, Riccardo...
https://discovery.ucl.ac.uk/id/eprint/10178232/1/Mutations%20in%20alpha%20B%20crystallin.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
1-15