E-LIB Suche - Ergebnisse für: Rossor, A.M.

1

The evolving spectrum of complex inherited neuropathies:

Rossor, Alexander M. ; Haddad, Saif ; Reilly, Mary M.
Current Opinion in Neurology. , 2024

Link: https://doi.org/10.1097/..

2

Quantitative Foot Muscle Magnetic Resonance Imaging Reliabl..:

Doherty, Carolynne M. ; Howard, Paige ; O'Donnell, Luke F....
Annals of Neurology. 96 (2024) 1 - p. 170-174 , 2024

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

3

RTN2 deficiency results in an autosomal recessive distal mo..:

Maroofian, Reza ; Sarraf, Payam ; O'Brien, Thomas J...
Brain. 147 (2024) 7 - p. 2334-2343 , 2024

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

4

Lower limb muscle MRI fat fraction is a responsive outcome ..:

Doherty, Carolynne M. ; Morrow, Jasper M. ; Zuccarino, Riccardo...
Annals of Clinical and Translational Neurology. 11 (2024) 3 - p. 607-617 , 2024

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

5

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

Record, Christopher J ; Pipis, Menelaos ; Skorupinska, Mariola...
Brain. , 2024

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

6

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/..

7

Serum neurofilament light chain in hereditary transthyretin..:

Carroll, Antonia S. ; Razvi, Yousuf ; O'Donnell, Luke...
Amyloid. 31 (2024) 2 - p. 95-104 , 2024

Link: https://doi.org/10.1080/..

8

Serum neurofilament light chain in hereditary transthyretin..:

Antonia S. Carroll ; Yousuf Razvi ; Luke O'Donnell...
doi:10.6084/m9.figshare.25211505.v1. , 2024

Link: https://doi.org/10.6084/..

9

Lower limb muscle MRI fat fraction is a responsive outcome ..:

Doherty, CM ; Morrow, JM ; Zuccarino, R...
https://discovery.ucl.ac.uk/id/eprint/10185259/1/Lower%20limb%20muscle%20MRI%20fat%20fraction%20is%20a%20responsive%20outcome%20measure%20in%20CMT%20X1%20%201B.pdf. , 2024

Link: https://discovery.ucl.ac..

10

Serum neurofilament light chain in hereditary transthyretin..:

Antonia S. Carroll ; Yousuf Razvi ; Luke O'Donnell...
doi:10.6084/m9.figshare.25211505.v1. , 2024

Link: https://doi.org/10.6084/..

11

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/..

12

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/..

13

Genetic landscape of congenital insensitivity to pain and h..:

Lischka, Annette ; Eggermann, Katja ; Record, Christopher J...
Brain. 146 (2023) 12 - p. 4880-4890 , 2023

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

14

The role of PMP22 T118M in Charcot–Marie–Tooth disease rema..:

Record, Christopher J. ; Laura, Matilde ; Rossor, Alexander M..
Journal of Biological Chemistry. 299 (2023) 9 - p. 105180 , 2023

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

15

Muscle magnetic resonance imaging of a large cohort of dist..:

Esteller, Diana ; Morrow, Jasper ; Alonso-Pérez, Jorge...
Neuromuscular Disorders. 33 (2023) 10 - p. 744-753 , 2023

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