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Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation.

Thor MG, Vivekanandam V, Sampedro-Castañeda M, Tan SV, Suetterlin K, Sud R, Durran S, Schorge S, Kullmann DM, Hanna MG, Matthews E, Männikkö R.

Sci Rep. 2019 Nov 26;9(1):17560. doi: 10.1038/s41598-019-54041-0.


Subacute combined degeneration of the spinal cord masking motor neuron disease: a case report.

Loveland P, Wong A, Vivekanandam V, Lim WK.

J Med Case Rep. 2019 Nov 18;13(1):336. doi: 10.1186/s13256-019-2256-8.


CNS phenotype in X linked Charcot- Marie-Tooth disease.

Vivekanandam V, Hoskote C, Rossor AM, Reilly MM.

J Neurol Neurosurg Psychiatry. 2019 Sep;90(9):1068. doi: 10.1136/jnnp-2018-319849. Epub 2018 Dec 5. No abstract available.


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