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Mary M. Reilly

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81H-index
843Paper Count
2.3WCitation Count
Published Papers 320
Publication Date
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ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjogren Syndrome
err2025-12-01
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errOAAI
errHaddad, Saif; Poh, Roy; Hehir, Jason; Polke, James M.; Blake, Julian; Reilly, Mary M.
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Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
errBRAIN
IF11.7
err2025-12-01
err0
errOAAI
errArmirola-Ricaurte, Camila; Morant, Laura; Adant, Isabelle; Hamed, Sherifa A.; Pipis, Menelaos; Efthymiou, Stephanie; Amor-Barris, Silvia; Atkinson, Derek; Van de Vondel, Liedewei; Tomic, Aleksandra; Seneca, Sara; de Vriendt, Els; Zuchner, Stephan; Ghesquiere, Bart; Hanna, Michael G.; Houlden, Henry; Lunn, Michael P.; Reilly, Mary M.; Rasic, Vedrana Milic; Jordanova, Albena
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Expression of genetic peripheral neuropathies in South African Children
err2025-11-22
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errOAAI
errSharika V Raga; Gwendoline Q Kandawasvika; Alvin Ndondo; Michael G Hanna; Mary M Reilly; Christopher J Record; Amanda Krause; Fahmida Essop; Alina Esterhuizen; Jo M Wilmshurst
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Plasma periaxin is a biomarker of peripheral nerve demyelination
errBRAIN
IF11.7
err2025-11-01
err4
errOAAI
errBellanti, Roberto; Keh, Ryan Y. S.; Keddie, Stephen; Chou, Michael K. L.; Misheva, Mariya; Smyth, Duncan; Baskozos, Georgios; Moodley, Kaminie; Hart, Melanie S.; Davies, Alexander J.; Reilly, Mary M.; Rinaldi, Simon; Lunn, Michael P.
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Pseudodominant Inheritance of Biallelic RFC1 Expansions—Revisiting the 3p22-p24 HSN1B Locus
err2025-10-14
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PREAI
errBianca R. Grosz; Melina Ellis; Shuchi Trivedi; Carolin Scriba; Marion Stoll; Danqing Zhu; Sanjog R. Chintalaphani; Igor Stevanovski; Andrea Cortese; Penelope J. Spring; Nigel G. Laing; Ira W. Deveson; Mary M. Reilly; Garth A. Nicholson; Kishore R. Kumar; Steve Vucic; Marina L. Kennerson
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Peripheral Neuropathy in p.Val142Ile (Val122Ile) Variant Hereditary Transthyretin-Mediated Amyloidosis
err2025-10-01
err0
PREAI
errZhang, Victor Jia Wei; O'Donnell, Luke F.; Skorupinska, Mariola; Carganillo, Roy; Rossor, Alexander M.; Fontana, Marianna; Rowczenio, Dorota; Gilbertson, Janet; Gillmore, Julian D.; Reilly, Mary M.
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The International Summit on Health Benefits of Physical Fitness for People With Down Syndrome: Current Science, Gaps, Priorities, and Research Opportunities
err2025-09-01
err1
PREAI
errOreskovic, Nicolas M.; Austin, Greg; Aylward, Brendan; Boer, Pieter; Bricout, Veronique-A; Cheema, Nashwa; Das, Amit; Fernhall, Bo; Fleming, Richard; Florez, Carolina; Gordon, Dan; Spognardi, Alexa Gozdiff; Hilgenkamp, Thessa; Hillerstromm, Hampus; Joyce, Christopher T.; Keiller, Don; Kelly, Lois; Komyerov, Josh; Lincoln, Andrew E.; Mann, Sarah; Murray, Lake; Pickard, Kandi; Ptomey, Lauren T.; Reid, Kieran F.; Reilly, Melissa; Rhondeau, Margot; Santoro, Stephanie L.; Stanish, Heidi; Tam, Josh; Torres, Amy; Skotko, Brian G.
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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
errBRAIN
IF11.7
err2025-08-01
err3
errOAAI
errCortese, Andrea; Dohrn, Maike F.; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J.; Fernandez-Eulate, Gorka; Haddad, Saif; Laura, Matilde; Rossor, Alexander M.; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N.; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F.; Achenbach, Pascal; Schone, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D.; Winter, Natalie; Creigh, Peter D.; Sowden, Janet E.; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K. L.; Brennan, Kathryn M.; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R.; Kennerson, Marina L.; Kayserili, Hulya; Amado, Defne A.; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J.; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C.; Lee, Yi-Chung; Basak, Ayse N.; Hamed, Sherifa A.; Rojas-Garcia, Ricardo; Claeys, Kristl G.; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N.; Scherer, Steven S.; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M.; Shy, Michael E.; Zuchner, Stephan
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ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathy
err2025-07-23
err0
errOAAI
errValentine Perrain; Christopher J Record; Mariola Skorupinska; Julian Blake; Joanna Campbell; Roy Poh; James Polke; Anna Sarkozy; Francesco Muntoni; Mary M. Reilly
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Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series
err2025-07-16
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errOAAI
errJ Robert Harkness; John H McDermott; Shea Marsden; Peter Jamieson; Kay A Metcalfe; Naz Khan; William L Macken; Robert D S Pitceathly; Christopher J Record; Reza Maroofian; Kleopas Kleopa; Kyproula Christodoulou; Ataf Sabir; Lily Islam; Saikat Santra; Enise Avci Durmusalioglu; Tahir Atik; Esra Isik; Ozgur Cogulu; Jill E Urquhart; Glenda M Beaman; Leigh A Demain; Adam Jackson; Alexander J M Blakes; Helen J Byers; Hayley Bennett; Wei-Hsiang Lin; Antony Adamson; Sanjai Patel; Wyatt W Yue; Robert W Taylor; Janine Reunert; Thorsten Marquardt; Rebecca Buchert; Tobias Haack; Heike Losch; Lukas Ryba; Petra Lassuthova; Radka Valkovičová; Jana Haberlová; Barbora Lauerová; Eva Trúsiková; Kiran Polavarapu; Ozge Aksel Kilicarslan; Hanns Lochmüller; Mina Zamani; Niloofar Chamanrou; Gholamreza Shariati; Saeid Sadeghian; Reza Azizimalamiri; Sateesh Maddirevula; Muhammad AlMuhaizea; Fowzan S Alkuraya; Rita Horvath; Serdal Gungor; Adnan Manzur; Pinki Munot; Rachael Matthews; Siddharth Banka; Mary M Reilly; Daimark Bennett; Raymond T O’Keefe; William G Newman
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Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants
errBrain
IF11.7
err2025-06-09
err0
PREAI
errKailee S Ward; Christopher P Ptak; Natalya Pashkova; Tiffany Grider; Tabitha A Peterson; Davide Pareyson; Chiara Pisciotta; Paola Saveri; Isabella Moroni; Matilde Laura; Joshua Burns; Manoj P Menezes; Kayla Cornett; Richard Finkel; Bipasha Mukherjee-Clavin; Charlotte J Sumner; Maxwell Greene; Omer Abdul Hamid; David Herrmann; Reza Sadjadi; David Walk; Stephan Züchner; Mary M Reilly; Steven S Scherer; Inherited Neuropathy Consortium; Robert C Piper; Michael E Shy
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Early cardiovascular autonomic failure in ATTRv predicts poor prognosis and may respond to disease-modifying therapy
err2025-04-24
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PREAI
errLaura Sander; Giacomo Chiaro; Domenico Abelardo; Angelo Torrente; Gordon T. Ingle; Patricia McNamara; Laura Watson; Carol J. Whelan; Julian D. Gillmore; Mary M. Reilly; Christopher J. Mathias; Valeria Iodice
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Twelve-month change in quantitative MRI calf muscle fat fraction in CMT1A predicts clinical change over 4 years
err2025-02-17
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errOAAI
errEvans, Matthew R. B.; Salhab, Hamza A.; Sinclair, Christopher D. J.; Shah, Sachit; Hanna, Michael G.; Yousry, Tarek A.; Thornton, John S.; Morrow, Jasper M.; Reilly, Mary M.
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Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy
err2025-02-09
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errOAAI
errHaddad, Saif; Record, Christopher J.; Self, Eleanor; Skorupinska, Mariola; Rossor, Alexander M.; Laura, Matilde; Ingle, Gordon; Manzur, Adnan; Muntoni, Francesco; Blake, Julian C.; Reilly, Mary M.
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Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country
err2024-11-14
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errOAAI
errFrezatti, Rodrigo Siqueira Soares; Tomaselli, Pedro Jose; Record, Christopher J.; Wilson, Lindsay A.; Alves, Gustavo Maximiano; Dominik, Natalia; Efthymiou, Stephanie; Patel, Krutik; Vandrovcova, Jana; Mannikko, Roope; Pitceathly, Robert D. S.; Sobreira, Claudia Ferreira da Rosa; McFarland, Robert; Taylor, Robert W.; Houlden, Henry; Hanna, Michael G.; Reilly, Mary M.; Marques, Wilson
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TTR associated leptomeningeal amyloidosis in a Sri Lankan patient
err2024-11-01
err0
errOAAI
errMuthukumarasamy, Mary; Vijayabala, Jeevagan; Tharmalingam, Thulasi; Ceravolo, Giorgia; Zhelcheska, Kristina; Houlden, Henry; Davagnanam, Indran; Reilly, Mary M.; Lynch, David S.
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Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations
err2024-10-28
err0
errOAAI
errNagy, Sara; Pagnamenta, Alistair T.; Cali, Elisa; Braakman, Hilde M. H.; Wijntjes, Juerd; Kusters, Benno; Gotkine, Marc; Elpeleg, Orly; Meiner, Vardiella; Lenberg, Jerica; Wigby, Kristen; Friedman, Jennifer; Perry, Luke D.; Rossor, Alexander M.; Meszarosova, Anna Uhrova; Thomasova, Dana; Jacob, Saiju; O'Driscoll, Mary; De Simone, Lenika; Grange, Dorothy K.; Sommerville, Richard; Firoozfar, Zahra; Alavi, Shahryar; Mazaheri, Mahta; Parmar, Jevin M.; Lamont, Phillipa J.; Pini, Veronica; Sarkozy, Anna; Muntoni, Francesco; Ravenscroft, Gianina; Jones, Eppie; O'Rourke, Declan; Nel, Melissa; Heckmann, Jeannine M.; Kvalsund, Michelle; Kapapa, Musambo M.; Somwe, Somwe Wa; Bearden, David R.; Cakar, Arman; Childs, Anne-Marie; Horvath, Rita; Reilly, Mary M.; Houlden, Henry; Maroofian, Reza
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Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype
err2024-10-23
err0
errOAAI
errRecord, Christopher J.; O'Connor, Antoinette; Verbeek, Nienke E.; van Rheenen, Wouter; Zamba Papanicolaou, Eleni; Peric, Stojan; Ligthart, Peter C.; Skorupinska, Mariola; van Binsbergen, Ellen; Campeau, Philippe M.; Ivanovic, Vukan; Hennigan, Brian; Mchugh, John C.; Blake, Julian C.; Murakami, Yoshiko; Laura, Matilde; Murphy, Sinead M.; Reilly, Mary M.
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Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J
err2024-09-10
err0
PREAI
errSadjadi, Reza; Picher-Martel, Vincent; Morrow, Jasper M.; Thedens, Daniel; Dicamillo, Paul A.; Mccray, Brett A.; Pareyson, Davide; Herrmann, David N.; Reilly, Mary M.; Li, Jun; Castro, Diana; Shy, Michael E.
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