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

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

Reticulon 2 deficiency results in an autosomal recessive di..:

Maroofian, Reza ; Sarraf, Payam ; O'Brien, Thomas J...
Brain. , 2024

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

3

Quantitative Foot Muscle Magnetic Resonance Imaging Reliabl..:

Doherty, Carolynne M. ; Howard, Paige ; O'Donnell, Luke F....
Annals of Neurology. , 2024

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

4

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

Serum Neurofilament Light Chain in Replication Factor Compl..:

Quartesan, Ilaria ; Vegezzi, Elisa ; Currò, Riccardo...
Movement Disorders. 39 (2023) 1 - p. 209-214 , 2023

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

12

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/..

13

A new mouse model of Charcot-Marie-Tooth 2J neuropathy repl..:

Shackleford, Ghjuvan'Ghjacumu ; Marziali, Leandro N. ; Sasaki, Yo...
PLOS Genetics. 18 (2022) 11 - p. e1010477 , 2022

Link: https://doi.org/10.1371/..

14

Blood biomarkers of peripheral neuropathy:

Rossor, Alexander M. ; Reilly, Mary M.
Acta Neurologica Scandinavica. 146 (2022) 4 - p. 325-331 , 2022

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

15

Unusual upper limb features in SORD neuropathy:

Record, Christopher J ; Pipis, Menelaos ; Blake, Julian...
Journal of the Peripheral Nervous System. 27 (2022) 2 - p. 175-177 , 2022

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