A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot–Marie–Tooth disease

Autor: James R. Edgar, Anita K. Ho, Matilde Laurá, Rita Horvath, Mary M. Reilly, J. Paul Luzio, Rhys C. Roberts

Publikováno v: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-16 (2020)

Abstract Autosomal dominant mutations in LITAF are responsible for the rare demyelinating peripheral neuropathy, Charcot–Marie–Tooth disease type 1C (CMT1C). The LITAF protein is expressed in many human cell types and we have investigated the con

Externí odkaz: https://doaj.org/article/275f11a6cd874fd9bce07eb7b28c4413

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Autor: Kristina Ibañez, James Polke, R Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko, Ellen Rachel Amy Thomas, Louise C Daugherty, Dalia Kasperaviciute, Katherine R Smith, Zandra C Deans, Sue Hill, Tom Fowler, Richard H Scott, John Hardy, Patrick F Chinnery, Henry Houlden, Augusto Rendon, Mark J Caulfield, Michael A Eberle, Ryan J Taft, Arianna Tucci, Ellen M McDonagh, Antonio Rueda, Dimitris Polychronopoulos, Georgia Chan, Heather Angus-Leppan, Kailash P Bhatia, James E Davison, Richard Festenstein, Pietro Fratta, Paola Giunti, Robin Howard, Laxmi Venkata, Matilde Laurá, Meriel McEntagart, Lara Menzies, Huw Morris, Mary M Reilly, Robert Robinson, Elisabeth Rosser, Francesca Faravelli, Anette Schrag, Jonathan M Schott, Thomas T Warner, Nicholas W Wood, David Bourn, Kelly Eggleton, Robyn Labrum, Philip Twiss, Stephen Abbs, Liana Santos, Ghareesa Almheiri, Isabella Sheikh, Jana Vandrovcova, Christine Patch, Ana Lisa Taylor Tavares, Zerin Hyder, Anna Need, Helen Brittain, Emma Baple, Loukas Moutsianas, Viraj Deshpande, Denise L Perry, Subramanian S. Ajay, Aditi Chawla, Vani Rajan, Kathryn Oprych, Angela Douglas, Gill Wilson, Sian Ellard, I Karen Temple, Andrew Mumford, Dom McMullan, Kikkeri Naresh, Frances A Flinter, Jenny C Taylor, Lynn Greenhalgh, William Newman, Paul Brennan, John A Sayer, F Lucy Raymond, Lyn S Chitty, John C. Ambrose, Prabhu Arumugam, Marta Bleda, Freya Boardman-Pretty, Jeanne M. Boissiere, Christopher R. Boustred, Clare E.H. Craig, Anna de Burca, Andrew Devereau, Greg Elgar, Rebecca E. Foulger, Pedro Furió-Tarí, Joanne Hackett, Dina Halai, Angela Hamblin, Shirley Henderson, James Holman, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Melis Kayikci, Lea Lahnstein, Kay Lawson, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Joanne Mason, Michael Mueller, Nirupa Murugaesu, Chris A. Odhams, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Pablo Riesgo-Ferreiro, Tim Rogers, Mina Ryten, Kevin Savage, Kushmita Sawant, Afshan Siddiq, Alexander Sieghart, Damian Smedley, Alona Sosinsky, William Spooner, Helen E. Stevens, Alexander Stuckey, Razvan Sultana, Simon R. Thompson, Carolyn Tregidgo, Emma Walsh, Sarah A. Watters, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood, Magdalena Zarowiecki

Publikováno v: WGS for Neurological Diseases Group 2022, ' Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK : a retrospective diagnostic accuracy and prospective clinical validation study ', The Lancet. Neurology, vol. 21, no. 3, pp. 234-245 . https://doi.org/10.1016/S1474-4422(21)00462-2

BACKGROUND: Repeat expansion disorders affect about 1 in 3000 individuals and are clinically heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic testing is often locus-specific, resulting in underdiagnosis of people who h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8164460c3f9da55229a5e7da7b58924d
https://eprints.soton.ac.uk/455528/

221st ENMC International Workshop

Autor: Mary M. Reilly, Davide Pareyson, Joshua Burns, Matilde Laurá, Michael E. Shy, Dishan Singh, Per Henrik Agren, Viola Altmann, Jonathan Baets, Peter Briggs, Karen Butcher, Luca Gaiani, Filippo Genovese, Paul Gibbons, Jan Willem Louwerens, Adnan Manzur, Isabella Moroni, Nicolò Martinelli, Glenn Pfeffer, Gita Ramdharry, Michael Shy, Marco van der Linden, Wolfram Wenz

Publikováno v: Neuromuscular Disorders. 27:1138-1142

•Foot deformities are frequently observed in Charcot-Marie-Tooth disease patients.•Surgical management is variable among centres.•During the workshop current surgical approaches were reviewed.•Recommendations for foot surgery in CMT patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::097c06c30b6fe54e95097372ee507821
https://doi.org/10.1016/j.nmd.2017.09.005

Preparación y servicio de bebidas y comidas rápidas en el bar. HOTR0208

Autor: Matilde Laura Charquero Gómez

Libro especializado que se ajusta al desarrollo de la cualificación profesional y adquisición de certificados de profesionalidad. Manual imprescindible para la formación y la capacitación, que se basa en los principios de la cualificación y dina

A pilot study of proximal strength training in Charcot-Marie-Tooth disease

Autor: Gita M, Ramdharry, Alexander, Pollard, Cheryl, Anderson, Matilde, Laurá, Sinead M, Murphy, Magdalena, Dudziec, Elizabeth L, Dewar, Elspeth, Hutton, Robert, Grant, Mary M, Reilly

Publikováno v: Journal of the peripheral nervous system : JPNS. 19(4)

Gait analysis of people with Charcot-Marie-Tooth (CMT) disease revealed proximal adaptive gait strategies to compensate for foot drop. We previously demonstrated that hip flexor muscle fatigue can limit walking endurance. This pilot study used a sing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3c2c14c212c3923ff97dd55ca54ca9f3
https://pubmed.ncbi.nlm.nih.gov/25582960