Browse by UCL people
Group by: Type | Date
Number of items: 11.
Article
Matthews, E;
Neuwirth, C;
Jaffer, F;
Scalco, RS;
Fialho, D;
Parton, M;
Raja Rayan, D;
... Hanna, MG; + view all
(2018)
Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.
Neurology
, 90
(5)
e412-e418.
10.1212/WNL.0000000000004894.
|
Molenaar, JP;
Verhoeven, JI;
Rodenburg, RJ;
Kamsteeg, EJ;
Erasmus, CE;
Vicart, S;
Behin, A;
... Sternberg, D; + view all
(2020)
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Brain
, 143
(2)
pp. 452-466.
10.1093/brain/awz410.
|
Ribeiro, A;
Suetterlin, KJ;
Skorupinska, I;
Tan, SV;
Morrow, JM;
Matthews, E;
Hanna, MG;
(2021)
The long exercise test as a functional marker of periodic paralysis.
Muscle & Nerve
10.1002/mus.27465.
(In press).
|
Suetterlin, K;
Tan, S;
Männikkö, R;
Phadke, R;
Orford, MR;
Eaton, S;
Sayer, A;
... Hanna, M; + view all
(2021)
Ageing Contributes to Phenotype Transition in a Mouse Model of Periodic Paralysis.
JCSM Rapid Communications
, 4
(2)
pp. 245-259.
|
Suetterlin, K;
Männikkö, R;
Flossmann, E;
Sud, R;
Fialho, D;
Vivekanandam, V;
James, N;
... Matthews, E; + view all
(2021)
Andersen-Tawil Syndrome Presenting with Complete Heart Block.
Journal of Neuromuscular Diseases
, 8
(1)
pp. 151-154.
10.3233/JND-200572.
|
Suetterlin, K;
Vivekanandam, V;
James, N;
Sud, R;
Holmes, S;
Fialho, D;
Hanna, M;
(2019)
Annual renal ultrasound may prevent acute
presentation with acetazolamide-associated
urolithiasis.
Neurology: Clinical Practice
10.1212/CPJ.0000000000000761.
(In press).
|
Suetterlin, KJ;
Rayan, D;
Matthews, E;
Hanna, MG;
(2020)
Mexiletine (NaMuscla) for the treatment of myotonia in non-dystrophic myotonic disorders.
Expert Opinion on Orphan Drugs
, 8
(2-3)
pp. 43-49.
10.1080/21678707.2020.1739519.
|
Sun, J;
Luo, S;
Suetterlin, KJ;
Song, J;
Huang, J;
Zhu, W;
Xi, J;
... Qiao, K; + view all
(2021)
Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations.
Neuromuscular Disorders
, 31
(9)
pp. 829-838.
10.1016/j.nmd.2021.03.014.
|
Tan, SV;
Suetterlin, K;
Männikkö, R;
Matthews, E;
Hanna, MG;
Bostock, H;
(2020)
In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis.
Clinical Neurophysiology
, 131
(4)
pp. 816-827.
10.1016/j.clinph.2019.12.414.
|
Thor, MG;
Vivekanandam, V;
Sampedro-Castañeda, M;
Tan, SV;
Suetterlin, K;
Sud, R;
Durran, S;
... Männikkö, R; + view all
(2019)
Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation.
Scientific Reports
, 9
, Article 17560. 10.1038/s41598-019-54041-0.
|
Thesis
Suetterlin, Karen Joan;
(2021)
Understanding the Pathophysiology of Skeletal Muscle Channelopathies.
Doctoral thesis (Ph.D), UCL (University College London).
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