Emma Matthews

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 18

Top Venues

Journal of human genetics

Wellcome open research

Muscle & nerve

Brain communications

UCL Institute of Neurology, University College London

UCL Institute of Neurology, University College London (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

UCL Institute of Neurology, University College London

United Kingdom

NIHR post-doctoral fellow :: MRC Centre for Neuromuscular Diseases

Education History

UCL Institute of Neurology, University College London

United Kingdom

PHD

Publications

Emma Matthews, Ella F Whittle, Faraan Khan, Meriel McEntagart, Christopher J Carroll
Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene. Journal of human genetics 69 (6) (2024)
Emma Matthews, Ella F Whittle, Faraan Khan, Meriel McEntagart, Christopher J Carroll
Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene. Journal of human genetics 69 (6) (2024)
Emma Matthews, Ella F Whittle, Faraan Khan, Meriel McEntagart, Christopher J Carroll
Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene. Journal of human genetics (2024)
Emma Matthews, Ella F Whittle, Faraan Khan, Meriel McEntagart, Christopher J Carroll
Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene. Journal of human genetics 69 (6) (2024)
Emma Matthews, Ella F Whittle, Faraan Khan, Meriel McEntagart, Christopher J Carroll
Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene. Journal of human genetics (2024)
Emma Matthews, Ella F Whittle, Faraan Khan, Meriel McEntagart, Christopher J Carroll
Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene. Journal of human genetics 69 (6) (2024)
Andreas C Themistocleous, Georgios Baskozos, Iulia Blesneac, Maddalena Comini, Karyn Megy, Sam Chong, Sri V V Deevi, Lionel Ginsberg, David Gosal, Robert D M Hadden, Rita Horvath, Mohamed Mahdi-Rogers, Adnan Manzur, Rutendo Mapeta, Andrew G Marshall, Emma Matthews, Mark I McCarthy, Mary M Reilly, Tara Renton, Andrew S C Rice, Tom A Vale, Natalie van Zuydam, Suellen M Walker, Christopher Geoffrey Woods, David L H Bennett
Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort. Brain communications 5 (2) (2023)
Andreas C Themistocleous, Georgios Baskozos, Iulia Blesneac, Maddalena Comini, Karyn Megy, Sam Chong, Sri V V Deevi, Lionel Ginsberg, David Gosal, Robert D M Hadden, Rita Horvath, Mohamed Mahdi-Rogers, Adnan Manzur, Rutendo Mapeta, Andrew G Marshall, Emma Matthews, Mark I McCarthy, Mary M Reilly, Tara Renton, Andrew S C Rice, Tom A Vale, Natalie van Zuydam, Suellen M Walker, Christopher Geoffrey Woods, David L H Bennett
Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort. Brain communications 5 (2) (2023)
Vinojini Vivekanandam, Roope Männikkö, Iwona Skorupinska, Louise Germain, Belinda Gray, Sarah Wedderburn, Damian Kozyra, Richa Sud, Natalie James, Sarah Holmes, Konstantinos Savvatis, Doreen Fialho, Ashirwad Merve, Jatin Pattni, Maria Farrugia, Elijah R Behr, Chiara Marini-Bettolo, Michael G Hanna, Emma Matthews
Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity. Brain : a journal of neurology 145 (6) (2022)
Enrico Bugiardini, Andreia M Nunes, Ariany Oliveira-Santos, Marisela Dagda, Tatiana M Fontelonga, Pamela Barraza-Flores, Alan M Pittman, Jasper M Morrow, Matthew Parton, Henry Houlden, Perry Mark Elliott, Petros Syrris, Roderick P P W M Maas, Mohammed Majid Akhtar, Benno Küsters, Joost Raaphorst, Meyke Schouten, Erik-Jan Kamsteeg, Baziel G M van Engelen, Michael G Hanna, Rahul Phadke, Luis Rocha Lopes, Emma Matthews, Dean J Burkin
Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice. Journal of the American Heart Association 11 (23) (2022)
Ana Ribeiro, Karen J Suetterlin, Iwona Skorupinska, S Veronica Tan, Jasper M Morrow, Emma Matthews, Michael G Hanna, Doreen Fialho
The long exercise test as a functional marker of periodic paralysis. Muscle & nerve (2021)
Emma Matthews, Sarah Holmes, Doreen Fialho
Skeletal muscle channelopathies: a guide to diagnosis and management. Practical neurology 21 (3) (2021)
Karen J Suetterlin, S Veronica Tan, Roope Mannikko, Rahul Phadke, Michael Orford, Simon Eaton, Avan A Sayer, Miranda D Grounds, Emma Matthews, Linda Greensmith, Michael G Hanna
Ageing contributes to phenotype transition in a mouse model of periodic paralysis. JCSM rapid communications 4 (2) (2021)
Gabriel Cea, Daniel Andreu, Elaine Fletcher, Sithara Ramdas, Richa Sud, Michael G Hanna, Emma Matthews
Sodium channel myotonia may be associated with high-risk brief resolved unexplained events. Wellcome open research 5 (2020)
Gabriel Cea, Daniel Andreu, Elaine Fletcher, Sithara Ramdas, Richa Sud, Michael G Hanna, Emma Matthews
Sodium channel myotonia may be associated with high-risk brief resolved unexplained events. Wellcome open research (2020)
Bas C Stunnenberg, Samantha LoRusso, W David Arnold, Richard J Barohn, Stephen C Cannon, Bertrand Fontaine, Robert C Griggs, Michael G Hanna, Emma Matthews, Giovanni Meola, Valeria A Sansone, Jaya R Trivedi, Baziel G M van Engelen, Savine Vicart, Jeffrey M Statland
Guidelines on clinical presentation and management of nondystrophic myotonias. Muscle & nerve 62 (4) (2020)
Dilşad Türkdoğan, Emma Matthews, Sunay Usluer, Aslı Gündoğdu, Kayıhan Uluç, Roope Mannikko, Michael G Hanna, Sanjay M Sisodiya, Hande S Çağlayan
Possible role of SCN4A skeletal muscle mutation in apnea during seizure. Epilepsia open 4 (3) (2019)
Emma Matthews, Peter Blair, Sanjay Sisodiya, Stuart Jones, Neil Sebire, Elijah Behr, Peter J Fleming
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 104 (10) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Emma Matthews