7T MRI detects widespread brain iron deposition in neuroferritinopathy

Autor: Alexander G. Murley, Catarina Rua, Heather Biggs, Christopher T. Rodgers, Tomasz Matys, Jelle van denAmeele, Rita Horvath, Patrick F. Chinnery

Publikováno v: Annals of Clinical and Translational Neurology, Vol 11, Iss 5, Pp 1359-1364 (2024)

Abstract Neuroferritinopathy is a disorder of neurodegeneration with brain iron accumulation that has no proven disease‐modifying treatments. Clinical trials require biomarkers of iron deposition. We examined brain iron accumulation in one presympt

Externí odkaz: https://doaj.org/article/1e728dc0d0f242039b2d5260cacfbd04

EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

Autor: Antonio Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, Peter A. C. ’t Hoen, Dimitrios Athanasiou, Suzie-Ann Baker, Paraskevi Sakellariou, Georgios Paliouras, Carla D’Angelo, Rita Horvath, Michelangelo Mancuso, Nadine van der Beek, Cornelia Kornblum, Janbernd Kirschner, Davide Pareyson, Guillaume Bassez, Laura Blacas, Maxime Jacoupy, Catherine Eng, François Lamy, Jean-Philippe Plançon, Jana Haberlova, Esther Brusse, Janneke G. J. Hoeijmakers, Marianne de Visser, Kristl G. Claeys, Carmen Paradas, Antonio Toscano, Vincenzo Silani, Melinda Gyenge, Evy Reviers, Dalil Hamroun, Elisabeth Vroom, Mark D. Wilkinson, Hanns Lochmuller, Teresinha Evangelista

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)

Abstract Background The EURO-NMD Registry collects data from all neuromuscular patients seen at EURO-NMD's expert centres. In-kind contributions from three patient organisations have ensured that the registry is patient-centred, meaningful, and impac

Externí odkaz: https://doaj.org/article/50645335f24240a3b4537c13391b28b5

Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals

Autor: Toby Charles Major, Eszter Sara Arany, Katherine Schon, Magdolna Simo, Veronika Karcagi, Jelle van den Ameele, Patrick Yu Wai Man, Patrick F. Chinnery, Catarina Olimpio, Rita Horvath

Publikováno v: Frontiers in Neurology, Vol 14 (2023)

BackgroundLeber Hereditary Optic Neuropathy (LHON) is the most common inherited mitochondrial disease characterized by bilateral, painless, subacute visual loss with a peak age of onset in the second to third decade. Historically, LHON was thought to

Externí odkaz: https://doaj.org/article/48c871d2ccba431b9451d553f5fb705c

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

Autor: Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H. Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J. Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A. Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S. Zaki, Alban Ziegler, David R. Thorburn, David A. Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)

Van Haute et al describe autosomal recessive TEFM variants that impair mitochondrial transcription elongation and reduce the levels of promoter distal mitochondrial RNA transcripts, leading to heterogeneous mitochondrial diseases with a treatable neu

Externí odkaz: https://doaj.org/article/cd5cc9ecdd2c4821a6750da1e26f46ce

Career intentions of medical students in the UK: a national, cross-sectional study (AIMS study)

Autor: Richard J Samworth, Rita Horvath, sukhdev Singh, Imogen Milner, Jenny Yang, Emma Hitchcock, Daniel MaGee, William Thompson, Emma Slack, Wentin Chen, Alexandra Thomas, Tomas Ferreira, Anson Wong, Kavyesh Vivek, Ellena Leigh, Riya Patel, Guilherme Movio, Tushar Rakhecha, Alexander M Collins, Oliver Feng, Mario K Teo, Crispin C Wigfield, Dania Al-Hashimi, Maeve K Mulchrone, Alisha Pervaiz, Heather A Lewis, Florence Gilks, Charlotte Casteleyn, Sara Kidher, Erin Fitzsimons-West, Tanzil Rujeedawa, Meghna Sreekumar, Eliza Wade, Juel Choppy-Madeleine, Yasemin Durmus, Olivia King, Yu Ning Ooi, Malvi Shah, Tan Jih Yih, Samantha Burley, Basma R Khan, Rishik S Pilla, Vaishvi Dalal, Brennan L Gibson, Emma Westwood, Brandon S H Low, Sara R Sabur, Maryam A Malik, Safa Razzaq, Amardeep Sidki, Giulia Cianci, Felicity Greenfield, Sajad Hussain, Annie Harrison, Hugo Bernie, Luke Dcaccia, Linnuel J Pregil, Olivia Rowe, Ananya Jain, Gregory K Anyaegbunam, Syed Z Jafri, Arthur Handscomb, Sudhanvita Arun, Alfaiya Hashmi, Ankith Pandian, Joseph R Nicholson, Hannah Layton-Joyce, Kouther Mohsin, Matilda Gardener, Eunice C Y Kwan, Emily R Finbow, Sakshi Roy, Zoe M Constantinou, Mackenzie Garlick, Clare L Carney, Samantha Gold, Bilal Qureshi, Grace Annetts, Tamara Magallon-McGeorge, Khyatee Shah, Kholood T Munir, Timothy Neill, Gurpreet K Atwal, Anesu Kusosa, Anthony Vijayanathan, Mia Mäntylä, Momina Iqbal, Sara Raja, Muhammad H Shah, Pranjil Pokharel, Ashna Anil, Kate Stenning, Katie Appleton, Keerthana Uthayakumar, Rajan Panacer, Yasmin Owadally, Dilaxiha Rajendran, Harsh S Modalavalasa, Marta M Komosa, Morea Turjaka, Sruthi Saravanan, Amelia Dickson, Jack M Read, Georgina Cooper, Wing Chi Do, Chiamaka Anthony-Okeke, Daria M Bageac, David C W Loh, Rida Khan, Ruth Omenyo, Aidan Baker, Manon Everard, Wajiha Rahman, Denis Chen, Michael E Bryan, Shama Maliha, Amber Dhoot Vera Onongaya, Catherine L Otoibhi, Harry Donkin-Everton, Mia K Whelan, Claudia S F Hobson, Anthony Haynes, Joshua Bayes-Green, Mariam S Malik, Subanki Srisakthivel, Sophie Kidd, Alan Saji, Govind Dhillon, Muhammed Asif, Jessica L Marshall, Nain T Raja, Tawfique Rizwan, Aleksandra Dunin-Borkowska, James Brawn, Karthig Thillaivasan, Zainah Sindhoo, Ayeza Akhtar, Kelly Fletcher, Lok Pong Cheng, Medha Pillaai, Sakshi Garg, Wajahat Khan, Ria Bhatt Ben Sweeney, Madison Slight, Adan MI Chew, Cameron Thurlow, Kriti Yadav, Niranjan Rajesh, Nathan-Dhruv Mistry, Alyssa Weissman, Juan FE Jaramillo, Gregor W Abercromby, Emily Gaskin, Chloe Milton, Matthew Kokkat, Momina Hussain, Nana A Ohene-Darkoh, Syeda T Islam, Anushruti Yadav, Eve Richings, Samuel Foxcroft, Vivek Sivadev, Harriet Charlton, James A Cairn, Julia Shaaban, Leah Njenje, Mark J Bishop, Humairaa Ismail, Sarah L Henderson, Daniel C Chalk, Daniel J Mckenna, Fizah Hasan, Kanishka Saxena, Iona E Gibson, Saad Dosani

Publikováno v: BMJ Open, Vol 13, Iss 9 (2023)

Objective To determine current UK medical students’ career intentions after graduation and on completing the Foundation Programme (FP), and to ascertain the motivations behind these intentions.Design Cross-sectional, mixed-methods survey of UK medi

Externí odkaz: https://doaj.org/article/1cce37afdec140a3ba2bb154b1f5b1f6