Browse by UCL people
Group by: Type | Date
Number of items: 50.
Article
Altamura, C;
Lucchiari, S;
Sahbani, D;
Ulzi, G;
Comi, GP;
D'Ambrosio, P;
Petillo, R;
... Desaphy, J-F; + view all
(2018)
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C‐terminal peptide of the ClC‐1 channel.
Human Mutation
, 39
(9)
pp. 1273-1283.
10.1002/humu.23581.
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Bachmann, C;
Noreen, F;
Voermans, NC;
Schar, PL;
Vissing, J;
Fock, JM;
Bulk, S;
... Treves, S; + view all
(2019)
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.
Human Mutation
, 40
(7)
pp. 962-974.
10.1002/humu.23745.
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Bugiardini, E;
Khan, A;
Phadke, R;
Lynch, DS;
Cortese, A;
Feng, L;
Gang, Q;
... Hanna, MG; + view all
(2019)
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.
Neuromuscular Disorders
, 29
(10)
pp. 747-757.
10.1016/j.nmd.2019.08.003.
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Bugiardini, E;
Morrow, JM;
Shah, S;
Woods, CL;
Lynch, DS;
Pitmann, AM;
Reilly, MM;
... Yousry, TA; + view all
(2018)
The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.
Frontiers in Neurology
, 9
, Article 456. 10.3389/fneur.2018.00456.
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Bugiardini, E;
Rossor, AM;
Lynch, DS;
Swash, M;
Pittman, AM;
Blake, JC;
Hanna, MG;
... Matthews, E; + view all
(2017)
Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy.
Neurology Genetics
, 3
(4)
, Article e168. 10.1212/NXG.0000000000000168.
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Cea, G;
Andreu, D;
Fletcher, E;
Ramdas, S;
Sud, R;
Hanna, MG;
Matthews, E;
(2020)
Sodium channel myotonia may be associated with high-risk brief resolved unexplained events [version 2; peer review: 2 approved].
Wellcome Open Research
, 5
, Article 57. 10.12688/wellcomeopenres.15798.2.
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Cea, G;
Andreu, D;
Fletcher, E;
Ramdas, S;
Sud, R;
Hanna, MG;
Matthews, E;
(2020)
Sodium channel myotonia may be associated with high-risk brief resolved unexplained events [version 1; peer review: awaiting peer review].
Wellcome Open Research
, 5
p. 57.
10.12688/wellcomeopenres.15798.1.
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Clemens, D;
Gray, B;
Bagnall, R;
Tester, D;
Dotzler, S;
Giudicessi, J;
Matthews, E;
... Ackerman, M; + view all
(2020)
Triadin Knockout Syndrome is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and is Extremely Rare in the General Population.
Circulation: Genomic and Precision Medicine
, 13
(2)
10.1161/CIRCGEN.119.002731.
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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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Farmery, JHR;
Smith, ML;
Lynch, AG;
Huissoon, A;
Furnell, A;
Mead, A;
Levine, AP;
... Tan, Y; + view all
(2018)
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018).
Scientific Reports
, 8
, Article 13376. 10.1038/s41598-018-31524-0.
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Farmery, JHR;
Smith, ML;
NIHR BioResource - Rare Diseases, .;
Lynch, AG;
Mead, A;
Levine, AP;
Manzur, A;
... Huissoon, A; + view all
(2018)
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.
Scientific Reports
, 8
, Article 1300. 10.1038/s41598-017-14403-y.
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Fialho, D;
Griggs, RC;
Matthews, E;
(2018)
Periodic paralysis.
Handbook of Clinical Neurology
, 148
pp. 505-520.
10.1016/B978-0-444-64076-5.00032-6.
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Horga, A;
Raja Rayan, DL;
Matthews, E;
Sud, R;
Fialho, D;
Durran, SC;
Burge, JA;
... Hanna, MG; + view all
(2013)
Prevalence study of genetically defined skeletal muscle channelopathies in England.
Neurology
, 80
(16)
1472 - 1475.
10.1212/WNL.0b013e31828cf8d0.
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Ito, Y;
Carss, KJ;
Duarte, ST;
Hartley, T;
Keren, B;
Kurian, MA;
Marey, I;
... Revel-Vilk, S; + view all
(2018)
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
American Journal of Human Genetics
, 103
(1)
pp. 144-153.
10.1016/j.ajhg.2018.06.001.
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Jitpimolmard, N;
Matthews, E;
Fialho, D;
(2020)
Treatment Updates for Neuromuscular Channelopathies.
Current Treatment Options in Neurology
, 22
(10)
10.1007/s11940-020-00644-2.
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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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Maggi, L;
Matthews, E;
Desaphy, J-F;
(2020)
Editorial: New Insights in Skeletal Muscle Channelopathies - A Rapidly Expanding Field.
Frontiers in Neurology
, 11
, Article 626772. 10.3389/fneur.2020.626772.
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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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Matthews, E;
Balestrini, S;
Sisodiya, SM;
Hanna, MG;
(2020)
Muscle and brain sodium channelopathies: genetic causes, clinical phenotypes, and management approaches.
The Lancet Child & Adolescent Health
, 4
(7)
pp. 536-547.
10.1016/S2352-4642(19)30425-0.
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Matthews, E;
Blair, P;
Sisodiya, S;
Jones, S;
Sebire, N;
Behr, E;
Fleming, P;
(2019)
National registry for sudden unexpected deaths of infants and children in England: why do we need one and do families want one?
Archives of Disease in Childhood
10.1136/archdischild-2018-316542.
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Matthews, E;
Brassington, R;
Kuntzer, T;
Jichi, F;
Manzur, AY;
(2016)
Corticosteroids for the treatment of Duchenne muscular dystrophy.
Cochrane Database of Systematic Reviews
, 2016
(5)
, Article CD003725. 10.1002/14651858.CD003725.pub4.
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Matthews, E;
Hanna, MG;
(2017)
Dichlorphenamide efficacy in the primary periodic paralyses.
Expert Opinion on Orphan Drugs
, 5
(3)
pp. 285-290.
10.1080/21678707.2017.1283216.
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Matthews, E;
Hartley, L;
Sud, R;
Hanna, MG;
Muntoni, F;
Munot, P;
(2018)
Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy.
[Letter].
Journal of Neurology, Neurosurgery and Psychiatry
10.1136/jnnp-2017-317849.
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Matthews, E;
Holmes, S;
Fialho, D;
(2021)
Skeletal muscle channelopathies: a guide to diagnosis and management.
Practical Neurology
10.1136/practneurol-2020-002576.
(In press).
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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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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.
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Matthews, E;
Silwal, A;
Sud, R;
Hanna, MG;
Manzur, AY;
Muntoni, F;
Munot, P;
(2017)
Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.
Journal of Pediatrics
, 188
181-185.e6.
10.1016/j.jpeds.2017.05.081.
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Morrow, JM;
Matthews, E;
Raja Rayan, DL;
Fischmann, A;
Sinclair, CD;
Reilly, MM;
Thornton, JS;
... Yousry, TA; + view all
(2013)
Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.
Neuromuscular Disorders
, 23
(8)
pp. 637-646.
10.1016/j.nmd.2013.05.001.
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O'Connor, E;
Vandrovcova, J;
Bugiardini, E;
Chelban, V;
Manole, A;
Davagnanam, I;
Wiethoff, S;
... Wood, NW; + view all
(2018)
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy.
Journal of Neurology, Neurosurgery & Psychiatry
10.1136/jnnp-2017-317581.
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Rees, M;
Nikoopour, R;
Fukuzawa, A;
Kho, AL;
Fernandez-Garcia, MA;
Wraige, E;
Bodi, I;
... Gautel, M; + view all
(2021)
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathologia
10.1007/s00401-020-02257-0.
(In press).
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Rhodes, CJ;
Batai, K;
Bleda, M;
Haimel, M;
Southgate, L;
Germain, M;
Pauciulo, MW;
... Winslow, C; + view all
(2019)
Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.
The Lancet Respiratory Medicine
, 7
(3)
pp. 227-238.
10.1016/S2213-2600(18)30409-0.
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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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Scalco, RS;
Skorupinska, I;
Blochet, C;
Habib, M;
Matthews, E;
Morrow, J;
Hanna, M;
(2016)
Bumetanide in hypokalaemic periodic paralysis: a randomised, double-blind, placebo controlled phase II clinical trial with a crossover design.
Neuromuscular Disorders
, 26
(S2)
, Article P.373. 10.1016/j.nmd.2016.06.402.
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Schartner, V;
Romero, NB;
Donkervoort, S;
Treves, S;
Munot, P;
Pierson, TM;
Dabaj, I;
... Laporte, J; + view all
(2016)
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Acta Neuropathologica
, 133
(4)
pp. 517-533.
10.1007/s00401-016-1656-8.
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Stunnenberg, B;
LoRusso, S;
Arnold, WD;
Barohn, RJ;
Cannon, SC;
Fontaine, B;
Griggs, RC;
... Statland, JM; + view all
(2020)
Guidelines on clinical presentation and management of non-dystrophic myotonias.
Muscle & Nerve
, 62
(4)
pp. 430-444.
10.1002/mus.26887.
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Stunnenberg, BC;
Raaphorst, J;
Groenewoud, HM;
Statland, JM;
Griggs, RC;
Woertman, W;
Stegeman, DF;
... van der Wilt, GJ; + view all
(2018)
Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials.
Journal of the American Medical Association (JAMA)
, 320
(22)
pp. 2344-2353.
10.1001/jama.2018.18020.
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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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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).
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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.
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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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Thaventhiran, JED;
Lango Allen, H;
Burren, OS;
Rae, W;
Greene, D;
Staples, E;
Zhang, Z;
... Smith, KGC; + view all
(2020)
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature
, 583
pp. 90-95.
10.1038/s41586-020-2265-1.
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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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Turro, E;
Astle, WJ;
Megy, K;
Gräf, S;
Greene, D;
Shamardina, O;
Allen, HL;
... Ouwehand, WH; + view all
(2020)
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
, 583
pp. 96-102.
10.1038/s41586-020-2434-2.
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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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Vivekanandam, V;
Munot, P;
Hanna, M;
Matthews, E;
(2020)
Skeletal Muscle Channelopathies.
Neurologic Clinics
, 38
(3)
pp. 481-491.
10.1016/j.ncl.2020.04.003.
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Wei, W;
Tuna, S;
Keogh, MJ;
Smith, KR;
Aitman, TJ;
Beales, PL;
Bennett, DL;
... Chinnery, PF; + view all
(2019)
Germline selection shapes human mitochondrial DNA diversity.
Science
, 364
(6442)
, Article eaau6520. 10.1126/science.aau6520.
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Conference item
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Scalco, RS;
Morrow, J;
Manole, A;
Skorupinska, I;
Bellin, A;
Ricciardi, F;
Matthews, E;
... Fialho, D; + view all
(2018)
RCT of Bumetanide in Hypokalaemic Periodic Paralysis (HypoPP) using abductor digiti minimi compound muscle action potential (CMAP) as an objective outcome measure.
Presented at: 11th Annual UK Neuromuscular Translational Research Conference, Cambridge.
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Scalco, RS;
Morrow, J;
Skorupinska, I;
Manole, AA;
Bellin, A;
Ricciardi, F;
Matthews, E;
... Fialho, D; + view all
(2018)
EPR2165: RCT assessing 2mg bumetanide as a therapeutic agent for a focal attack of weakness in Hypokalaemic Periodic Paralysis (HypoPP).
Presented at: 4th Congress of the European Academy of Neurology, Lisbon, Portugal.
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Thesis
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Matthews, EL;
(2014)
The skeletal muscle channelopathies: phenotype, genotype and pathogenesis.
Doctoral thesis , UCL (University College London).
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