E-LIB Suche - Ergebnisse für: Beeson, David

1

Congenital myasthenic syndromes: beta adrenergic receptor a..:

Beeson, David
RRNMF Neuromuscular Journal. 4 (2023) 3 - p. , 2023

2

Characterisation of a novel mouse model for congenital myas..:

Alabaf, Setareh ; Webster, Richard ; Cossins, Judith...
Journal of the Neurological Sciences. 455 (2023) - p. 122014 , 2023

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

3

Structural and non-coding variants increase the diagnostic ..:

Pagnamenta, Alistair T. ; Camps, Carme ; Giacopuzzi, Edoardo...
Genome Medicine. 15 (2023) 1 - p. , 2023

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

4

260th ENMC International Workshop: Congenital myasthenic sy..:

Spendiff, Sally ; Dong, Yin ; Maggi, Lorenzo...
Neuromuscular Disorders. 33 (2023) 9 - p. 111-118 , 2023

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

5

A novel phenotype of AChR-deficiency syndrome with predomin..:

Rodríguez Cruz, Pedro M ; Ravenscroft, Gianina ; Natera, Daniel...
Neuromuscular Disorders. 33 (2023) 2 - p. 161-168 , 2023

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

6

Motor end-plate analysis to diagnose immune-mediated myasth..:

Nagaoka, Atsushi ; Tsujino, Akira ; Shiraishi, Hirokazu...
Journal of the Neurological Sciences. 443 (2022) - p. 120494 , 2022

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

7

Novel pathogenic ALG2 mutation causing congenital myastheni..:

Ehrstedt, Christoffer ; Liu, Wei-Wei ; Frykholm, Carina..
Neuromuscular Disorders. 32 (2022) 1 - p. 80-83 , 2022

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

8

Pregnancy outcomes in patients with congenital myasthenic s..:

O'Connell, Karen ; Rooney, Tatiana ; Alabaf, Setareh...
Muscle & Nerve. 66 (2022) 3 - p. 345-348 , 2022

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

9

Rituximab in juvenile myasthenia gravis-an international co..:

Ramdas, Sithara ; Della Marina, Adela ; Ryan, Monique M....
European Journal of Paediatric Neurology. 40 (2022) - p. 5-10 , 2022

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

10

Presynaptic congenital myasthenic syndrome due to three nov..:

Rodríguez Cruz, Pedro M. ; Hughes, Imelda ; Manzur, Adnan...
Neuromuscular Disorders. 31 (2021) 1 - p. 21-28 , 2021

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

11

Antagonistic postsynaptic and presynaptic actions of cycloh..:

Dissanayake, Kosala N. ; Margetiny, Filip ; Whitmore, Charlotte L....
The Journal of Physiology. 599 (2021) 24 - p. 5417-5449 , 2021

Link: https://doi.org/10.1113/..

12

Congenital myasthenic syndromes: where do we go from here?:

Ramdas, Sithara ; Beeson, David
Neuromuscular Disorders. 31 (2021) 10 - p. 943-954 , 2021

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

13

A rare mutation in the COLQ gene causing congenital myasthe..:

Vidanagamage, Anomali ; Gooneratne, Inuka Kishara ; Nandasiri, Shanika...
Neuromuscular Disorders. 31 (2021) 3 - p. 246-248 , 2021

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

14

Genetic defects are common in myopathies with tubular aggre..:

Gang, Qiang ; Bettencourt, Conceição ; Brady, Stefen...
Annals of Clinical and Translational Neurology. 9 (2021) 1 - p. 4-15 , 2021

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

15

The Structure, Function, and Physiology of the Fetal and Ad..:

Cetin, Hakan ; Beeson, David ; Vincent, Angela.
Frontiers in Molecular Neuroscience. 13 (2020) - p. , 2020

Link: https://doi.org/10.3389/..