Browse by UCL people
Group by: Type | Date
Number of items: 29.
Article
Babiker, T;
Vedovato, N;
Patel, K;
Thomas, N;
Finn, R;
Mannikko, R;
Chakera, AJ;
... Hattersley, AT; + view all
(2016)
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.
Diabetologia
, 59
(6)
pp. 1162-1166.
10.1007/s00125-016-3921-8.
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Carpenter, JC;
Männikkö, R;
Heffner, C;
Heneine, J;
Sampedro-Castañeda, M;
Lignani, G;
Schorge, S;
(2021)
Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy.
Epilepsia
10.1111/epi.16867.
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Echaniz-Laguna, A;
Biancalana, V;
Nadaj-Pakleza, A;
Fournier, E;
Matthews, E;
Hanna, MG;
Männikkö, R;
(2020)
Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome.
Journal of Neurology, Neurosurgery, and Psychiatry
, 91
(8)
pp. 898-900.
10.1136/jnnp-2020-323173.
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Elia, N;
Palmio, J;
Castañeda, MS;
Shieh, PB;
Quinonez, M;
Suominen, T;
Hanna, MG;
... Cannon, SC; + view all
(2019)
Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4.
Neurology
, 92
e1-e11.
10.1212/WNL.0000000000007185.
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Franklin, JP;
Cooper-Knock, J;
Baheerathan, A;
Moll, T;
Männikkö, R;
Heverin, M;
Hardiman, O;
... Hanna, MG; + view all
(2020)
Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
10.1080/21678421.2020.1786128.
(In press).
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Gonorazky, HD;
Marshall, CR;
Al-Murshed, M;
Hazrati, L-N;
Thor, MG;
Hanna, MG;
Mannikko, R;
... Yoon, G; + view all
(2017)
Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.
Neuromuscular Disorders
, 27
(6)
pp. 574-580.
10.1016/j.nmd.2017.02.001.
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Luo, S;
Sampedro Castañeda, M;
Matthews, E;
Sud, R;
Hanna, MG;
Sun, J;
Song, J;
... Männikkö, R; + view all
(2018)
Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4.
Scientific Reports
, 8
(1)
, Article 9714. 10.1038/s41598-018-27822-2.
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Männikkö, R;
Shenkarev, ZO;
Thor, MG;
Berkut, AA;
Myshkin, MY;
Paramonov, AS;
Kulbatskii, DS;
... Vassilevski, AA; + view all
(2018)
Spider toxin inhibits gating pore currents underlying periodic paralysis.
Proceedings of the National Academy of Sciences of the United States of America
, 115
(17)
pp. 4495-4500.
10.1073/pnas.1720185115.
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Männikkö, R;
Wong, L;
Tester, DJ;
Thor, MG;
Sud, R;
Kullmann, DM;
Sweeney, MG;
... Matthews, E; + view all
(2018)
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.
The Lancet
, 391
(10129)
pp. 1483-1492.
10.1016/S0140-6736(18)30021-7.
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Manole, A;
Mannikko, R;
Hanna, MG;
Kullmann, DM;
Houlden, H;
(2017)
De novo KCNA2 mutations cause hereditary spastic paraplegia.
[Letter].
Annals of Neurology
, 81
(2)
pp. 326-328.
10.1002/ana.24866.
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Matthews, E;
Männikkö, R;
Behr, E;
Hanna, MG;
(2019)
Genotype–phenotype association in patients with SCN4A mutation – Authors' reply.
[Letter].
The Lancet
, 393
(10188)
pp. 2301-2302.
10.1016/S0140-6736(19)30214-4.
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Mestre, TA;
Manole, A;
MacDonald, H;
Riazi, S;
Kraeva, N;
Hanna, MG;
Lang, AE;
... Yoon, G; + view all
(2016)
A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia.
Neurogenetics
, 17
(4)
pp. 245-249.
10.1007/s10048-016-0486-0.
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Myshkin, MY;
Mannikko, R;
Krumkacheva, OA;
Kulbatskii, DS;
Chugunov, AO;
Berkut, AA;
Paramonov, AS;
... Shenkarev, ZO; + view all
(2019)
Cell-Free Expression of Sodium Channel Domains for Pharmacology Studies. Noncanonical Spider Toxin Binding Site in the Second Voltage-Sensing Domain of Human Naᵥ1.4 Channel.
Frontiers in Pharmacology
, 10
, Article 953. 10.3389/fphar.2019.00953.
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Mӓnnikkӧ, Roope;
Kullmann, Dimitri M;
(2024)
Structure-function and pharmacologic aspects of ion channels relevant to neurologic channelopathies.
Handbook of Clinical Neurology
, 203
pp. 1-23.
10.1016/B978-0-323-90820-7.00009-4.
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Palmio, J;
Sandell, S;
Hanna, MG;
Mannikko, R;
Penttila, S;
Udd, B;
(2017)
Predominantly myalgic phenotype caused by the c.3466G > A p.A1156T mutation in SCN4A gene.
Neurology
, 88
(16)
pp. 1520-1527.
10.1212/WNL.0000000000003846.
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Salpietro, Vincenzo;
Galassi-Deforie, Valentina;
Efthymiou, Stephanie;
O'Connor, Emer;
Marcé-Grau, Anna;
Maroofian, Reza;
Striano, Pasquale;
... Männikkö, Roope; + view all
(2022)
De novo KCNA6 variants with attenuated KV1.6 channel deactivation in patients with epilepsy.
Epilepsia
, 64
(2)
pp. 443-455.
10.1111/epi.17455.
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Salpietro, V;
Dixon, CL;
Guo, H;
Bello, OD;
Vandrovcova, J;
Efthymiou, S;
Maroofian, R;
... Houlden, H; + view all
(2019)
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Nature Communications
, 10
(1)
, Article 3094. 10.1038/s41467-019-10910-w.
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Sampedro Castañeda, M;
Zanoteli, E;
Scalco, RS;
Scaramuzzi, V;
Marques Caldas, V;
Conti Reed, U;
da Silva, AMS;
... Matthews, E; + view all
(2018)
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.
Brain
, 141
(12)
pp. 3308-3318.
10.1093/brain/awy283.
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Suetterlin, K;
Matthews, E;
Sud, R;
McCall, S;
Fialho, D;
Burge, J;
Jayaseelan, D;
... Männikkö, R; + view all
(2021)
Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.
Brain
10.1093/brain/awab344.
(In press).
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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.
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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.
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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.
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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.
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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.
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Türkdoğan, D;
Matthews, E;
Usluer, S;
Gündoğdu, A;
Uluç, K;
Mannikko, R;
Hanna, MG;
... Çağlayan, SH; + view all
(2019)
Possible role of SCN4A skeletal muscle mutation in apnoea during seizure.
Epilepsia Open
10.1002/epi4.12347.
(In press).
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Vivekanandam, V;
Männikkö, R;
Skorupinska, I;
Germain, L;
Gray, B;
Wedderburn, S;
Kozyra, D;
... Matthews, E; + view all
(2022)
Andersen–Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.
Brain
, 145
(6)
pp. 2108-2120.
10.1093/brain/awab445.
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Vivekanandam, Vinojini;
Jaibaji, Rawan;
Sud, Richa;
Ellmers, Rebecca;
Skorupinska, Iwona;
Germaine, Louise;
James, Natalie;
... Hanna, Michael G; + view all
(2023)
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Neuromuscular Disorders
, 33
(3)
pp. 270-273.
10.1016/j.nmd.2023.01.007.
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Vivekanandam, V;
Mannikko, R;
Matthews, E;
Hanna, MG;
(2020)
Improving genetic diagnostics of skeletal muscle channelopathies.
Expert Review of Molecular Diagnostics
, 20
(7)
pp. 725-736.
10.1080/14737159.2020.1782195.
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Thesis
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Durran, SCM;
(2016)
Genetic and molecular studies of skeletal muscle channelopathies.
Doctoral thesis , UCL (University College London).
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