Sodium channel myotonia may be associated with high-risk brief resolved unexplained events [version 2; peer review: 2 approved]

by Gabriel Cea, Daniel Andreu, Elaine Fletcher, Sithara Ramdas, Richa Sud, Michael G. Hanna, Emma Matthews
Published 2020-05-01

Deterioration of muscle force and contractile characteristics are early pathological events in spinal and bulbar muscular atrophy mice

by Anna L. Gray, Leonette Annan, James R. T. Dick, Albert R. La Spada, Michael G. Hanna, Linda Greensmith, Bilal Malik
Published 2020-05-01

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

by Dilşad Türkdoğan, Emma Matthews, Sunay Usluer, Aslı Gündoğdu, Kayıhan Uluç, Roope Mannikko, Michael G. Hanna, Sanjay M. Sisodiya, Hande S. Çağlayan
Published 2019-09-01

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies

by Enrico Bugiardini, Jasper M. Morrow, Sachit Shah, Sachit Shah, Claire L. Wood, David S. Lynch, Alan M. Pitmann, Mary M. Reilly, Mary M. Reilly, Henry Houlden, Emma Matthews, Matt Parton, Michael G. Hanna, Michael G. Hanna, Volker Straub, Tarek A. Yousry, Tarek A. Yousry, Tarek A. Yousry
Published 2018-06-01

Ageing contributes to phenotype transition in a mouse model of periodic paralysis

by 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
Published 2021-07-01

Semi-Automated Analysis of Diaphragmatic Motion with Dynamic Magnetic Resonance Imaging in Healthy Controls and Non-Ambulant Subjects with Duchenne Muscular Dystrophy

by Courtney A. Bishop, Valeria Ricotti, Christopher D. J. Sinclair, Christopher D. J. Sinclair, Matthew R. B. Evans, Matthew R. B. Evans, Jordan W. Butler, Jasper M. Morrow, Jasper M. Morrow, Michael G. Hanna, Michael G. Hanna, Paul M. Matthews, Tarek A. Yousry, Tarek A. Yousry, Francesco Muntoni, John S. Thornton, John S. Thornton, Rexford D. Newbould, Robert L. Janiczek
Published 2018-01-01

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in <i>TPK1</i>-Related Diseases

by Enrico Bugiardini, Simon Pope, René G. Feichtinger, Olivia V. Poole, Alan M. Pittman, Cathy E. Woodward, Simon Heales, Rosaline Quinlivan, Henry Houlden, Johannes A. Mayr, Michael G. Hanna, Robert D.S. Pitceathly
Published 2019-07-01

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

by Sanjeev Rajakulendran, Robert D S Pitceathly, Jan-Willem Taanman, Harry Costello, Mary G Sweeney, Cathy E Woodward, Zane Jaunmuktane, Janice L Holton, Thomas S Jacques, Brian N Harding, Carl Fratter, Michael G Hanna, Shamima Rahman
Published 2016-01-01

Mutations in GFAP Disrupt the Distribution and Function of Organelles in Human Astrocytes

by Jeffrey R. Jones, Linghai Kong, Michael G. Hanna, IV, Brianna Hoffman, Robert Krencik, Robert Bradley, Tracy Hagemann, Jeea Choi, Matthew Doers, Marina Dubovis, Mohammad Amin Sherafat, Anita Bhattacharyya, Christina Kendziorski, Anjon Audhya, Albee Messing, Su-Chun Zhang
Published 2018-10-01

Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2

by Tracey D. Graves, Paola Imbrici, Esther E. Kors, Gisela M. Terwindt, Louise H. Eunson, Rune R. Frants, Joost Haan, Michel D. Ferrari, Peter J. Goadsby, Michael G. Hanna, Arn M.J.M. van den Maagdenberg, Dimitri M. Kullmann
Published 2008-10-01

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

by Robert D.S. Pitceathly, Shamima Rahman, Yehani Wedatilake, James M. Polke, Sebahattin Cirak, A. Reghan Foley, Anna Sailer, Matthew E. Hurles, Jim Stalker, Iain Hargreaves, Cathy E. Woodward, Mary G. Sweeney, Francesco Muntoni, Henry Houlden, Jan-Willem Taanman, Michael G. Hanna
Published 2013-07-01

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

by Robert D.S. Pitceathly, Shamima Rahman, Yehani Wedatilake, James M. Polke, Sebahattin Cirak, A. Reghan Foley, Anna Sailer, Matthew E. Hurles, Jim Stalker, Iain Hargreaves, Cathy E. Woodward, Mary G. Sweeney, Francesco Muntoni, Henry Houlden, Jan-Willem Taanman, Michael G. Hanna
Published 2013-06-01

Upper Limb Evaluation in Duchenne Muscular Dystrophy: Fat-Water Quantification by MRI, Muscle Force and Function Define Endpoints for Clinical Trials.

by Valeria Ricotti, Matthew R B Evans, Christopher D J Sinclair, Jordan W Butler, Deborah A Ridout, Jean-Yves Hogrel, Ahmed Emira, Jasper M Morrow, Mary M Reilly, Michael G Hanna, Robert L Janiczek, Paul M Matthews, Tarek A Yousry, Francesco Muntoni, John S Thornton
Published 2016-01-01

Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study.

by Tracey A Willis, Kieren G Hollingsworth, Anna Coombs, Marie-Louise Sveen, Søren Andersen, Tanya Stojkovic, Michelle Eagle, Anna Mayhew, Paulo L de Sousa, Liz Dewar, Jasper M Morrow, Christopher D J Sinclair, John S Thornton, Kate Bushby, Hanns Lochmüller, Michael G Hanna, Jean-Yves Hogrel, Pierre G Carlier, John Vissing, Volker Straub
Published 2013-01-01

Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study.

by Tracey A Willis, Kieren G Hollingsworth, Anna Coombs, Marie-Louise Sveen, Soren Andersen, Tanya Stojkovic, Michelle Eagle, Anna Mayhew, Paulo Loureiro de Sousa, Liz Dewar, Jasper M Morrow, Christopher D J Sinclair, John S Thornton, Kate Bushby, Hanns Lochmuller, Michael G Hanna, Jean-Yves Hogrel, Pierre G Carlier, John Vissing, Volker Straub
Published 2014-01-01

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

by Mikhail Yu. Myshkin, Roope Männikkö, Olesya A. Krumkacheva, Dmitrii S. Kulbatskii, Anton O. Chugunov, Anton O. Chugunov, Anton O. Chugunov, Antonina A. Berkut, Alexander S. Paramonov, Mikhail A. Shulepko, Matvey V. Fedin, Michael G. Hanna, Dimitri M. Kullmann, Elena G. Bagryanskaya, Alexander S. Arseniev, Alexander S. Arseniev, Mikhail P. Kirpichnikov, Mikhail P. Kirpichnikov, Ekaterina N. Lyukmanova, Ekaterina N. Lyukmanova, Alexander A. Vassilevski, Alexander A. Vassilevski, Zakhar O. Shenkarev, Zakhar O. Shenkarev
Published 2019-09-01

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

by Yi Shiau Ng, Nichola Z. Lax, Paul Maddison, Charlotte L. Alston, Emma L. Blakely, Philippa D. Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F. Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A. Morris, Smaragda Kamakari, Georgia Chrousos, Richard J. Rodenburg, Christiaan G.J. Saris, Catherine Feeney, Steven A. Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G. Hanna, Akira Ohtake, Andrew M. Schaefer, Mike P. Champion, Doug M. Turnbull, Robert W. Taylor, Robert D.S. Pitceathly, Robert McFarland, Gráinne S. Gorman
Published 2018-04-01