Pinki Munot - Dubowitz Neuromuscular Center and MRC Center for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health

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论文共 143 篇作者统计合作学者相似作者

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Mortality of Symptomatic Children with Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies

R Finnegan, AM Rohwer, M Scoto, M Main, G Baranello, A Manzur, F Muntoni,P Munot

Neuromuscular Disorders (2025): 105313

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Genetic Risk of Axonal Neuropathy Following Infection

Robert Harkness,John H McDermott, Shea Marsden, Peter Jamieson,Kay A Metcalfe,Naz Khan,William L Macken,Robert DS Pitceathly,Christopher J Record,Reza Maroofian, Kloepa Kloepas,Ataf Sabir, Saicat Sintra,Enise Avci Durmusalioglu,Tahir Atik,Esra Isik,Ozgur Cogulu,Jill E Urquhart,Glenda Beaman,Leigh AM Demain,Adam Jackson,Alexander JM Blakes,Helen J Byers, Hayley Bennett, Wei-Hsiang Lin,Antony Adamson,Sanjai Patel,Wyatt Yue,Robert W Taylor,Janine Reunert,Thorsten Marquardt,Rebecca Buchert,Tobias Haack, Heike Losch,Lukas Ryba,Petra Lassuthova, Radka Valkovicova, Jana Haverlova, Barbora Lauerova, Eva Trusikova,Kiran Polavarapu, Ozge Aksel Kilocarslan, Hanns Lockmuller,Saeid Sadeghian,Mina Zamani, Niloofar Chamanrou,Gholamreza Shariati,Reza Azizimalamiri,Sateesh Maddirevula,Mohammad AlMuhaizea,Fowzan S Alkuraya,Rita Horvath,Serdal Gungor,Emma Wakeling,Adnan Manzur,Pinki Munot, Rachael Matthews,Siddharth Banka,Mary Reilly,Daimark Bennett,Raymond T O'Keefe,William G Newman

medrxiv（2025）

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Spinal Presentations in Children with Type 1 Spinal Muscular Atrophy on Nusinersen Treatment Across the SMA-REACH UK Network: a Retrospective National Observational Study

Lianne Abbott,Marion Main,Amy Wolfe,Annemarie Rohwer, Giovanni Baranello,Pinki Munot,Adnan Manzur,Francesco Muntoni,Mariacristina Scoto, SMA REACH UK Network Physiotherapists

BMJ OPENno. 1 (2025)

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M. M. McAnally,A. Potticary, L. H. Hayes, J. Clayton,G. Haliloglu,S. Donkervoort, M. Yang, M. Gibbons, B. Gross,S. Matesanz,L. Medne,S. Yum,P. Yun,R. Ghaoui, Haberlova J. C. Quinn, R. Dilley, M. Leach,K. Chatfield,D. Saade,A. Foley,M. Guglieri, T. Lee,P. Munot,A. Sarkozy,F. Muntoni,V Straub,N. Laing, A. Beggs,C. Bonnemann

ANNALS OF NEUROLOGY (2025): S127-S127

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The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

A Reghan Foley,Véronique Bolduc,Fady Guirguis,Sandra Donkervoort,Ying Hu,Rotem Orbach,Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini,Giacomo Comi,Monique Ryan,Denise McDonald,Pinki Munot,Grace Yoon,Edward Leung,Erika Finanger,Meganne E Leach,James Collins,Cuixia Tian,Payam Mohassel,Sarah B Neuhaus,Dimah Saade,Benjamin T Cocanougher, Mary-Lynn Chu,Mena Scavina,Carla Grosmann,Randal Richardson, Brian D Kossak,Sidney M Gospe,Vikram Bhise,Gita Taurina,Baiba Lace,Monica Troncoso,Mordechai Shohat,Adel Shalata,Sophelia H S Chan,Manu Jokela,Johanna Palmio,Göknur Haliloğlu,Cristina Jou,Corine Gartioux,Herimela Solomon-Degefa,Carolin D Freiburg,Alvise Schiavinato,Haiyan Zhou,Sara Aguti,Yoram Nevo,Ichizo Nishino,Cecilia Jimenez-Mallebrera,Shireen R Lamandé,Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni,Carsten G Bönnemann

medRxiv : the preprint server for health sciences（2024）

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51P Clinical Characterization of Collagen XII-related Disease Caused by Biallelic COL12A1 Variants

S. Donkervoort, R. McCarty,D. Saade,P. Munot,C. Laverty, H. Pinz,Y. Zou, M. McNally,P. Yun,C. Tian,A. Töpf,R. Phadke, D. Malicki, J. Friedman,A. Foley, J. Gleeson,T. Lotze,F. Muntoni,V. Straub,C. Bönnemann

Neuromuscular Disorders（2024）

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241P Long Term Follow-Up of CHRNE Congenital Myasthenic Syndrome (CMS) – a Retrospective Multi-Centre Cohort Study

L. Henehan, M. Khries,H. Ramjattan, Y. Dong, R. Everett,P. Munot,H. Jungbluth,D. Beeson,S. Ramdas,J. Palace

NEUROMUSCULAR DISORDERS（2024）

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498P Neuromuscular Centre Effect on Prevalence of Congenital Myasthenic Syndrome (CMS) in the UK

E. Rossini, L. Henehan, R. Everett, Y. Dong,C. Marini Bettolo,P. Munot,H. Jungbluth,D. Beeson,S. Ramdas,J. Palace

NEUROMUSCULAR DISORDERS（2024）

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Cross Sectional Study of 187 Patients with Congenital Myasthenia Syndrome, Describing the Clinical Phenotypes, Genetic Mutations, and Single Point Standardised Assessment Scores

S. Ramdas,H. Ramjattan, L. Hennehan,D. Natera De Benito,A. Nascimiento,A. Della Marina,U. Schara-Schmidt,P. Munot, E. Simmons,L. Maggi,A. Gallone,A. Nadaj Pakleza, J. Chanson,C. Marini-Bettolo,D. Moat, M. Paz Guerrero-Molina,C. Dominguez-Gonzalez,H. Jungbluth, J. Sheehan,J. Palace

NEUROMUSCULAR DISORDERS (2024)

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