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Bio
My research interests are the genetics of MND and how gene expression profiling can be used to investigate the pathogenic mechanisms of neurodegeneration and to identify diagnostic and prognostic biomarkers. MND is genetically heterogeneous, with over 30 genes identified for the most common form of the disease, amyotrophic lateral sclerosis (ALS), which in some patients can also be associated with frontotemporal dementia (FTD). The use of next generation sequencing, both whole exome and whole genome sequencing has significantly increased the identification of new genes.
My research therefore focuses on obtaining gene expression profiles from experimental models of the disease and from patient and control samples, in order to both elucidate the reasons why the motor neurones are dying and to identify useful biomarkers of ALS, including micro RNAs and other non-coding RNAs. More recently, as part of a large clinical trial, I am assessing the impact of therapeutic treatments on the blood transcriptome to help understand the mechanisms of action of low dose interleukin-2.
Research Interests
Papers共 126 篇Author StatisticsCo-AuthorSimilar Experts
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MODERN PATHOLOGYno. 3 (2025)
Gilbert Bensimon,P Nigel Leigh,Timothy Tree,Andrea Malaspina, Christine Am Payan,Hang-Phuong Pham, Pieter Klaassen, Pamela J Shaw, Ahmad Al Khleifat, Maria D M Amador,Shahram Attarian, Simon M Bell, Stéphane Beltran,Emilien Bernard,William Camu,Philippe Corcia, Jean-Christophe Corvol, Philippe Couratier, Véronique Danel,Rabab Debs,Claude Desnuelle, Aikaterini Dimitriou, John Ealing, Florence Esselin,Marie-Céline Fleury, George H Gorrie,Aude-Marie Grapperon, Adèle Hesters,Raul Juntas-Morales, Ivan Kolev, Géraldine Lautrette,Nadine Le Forestier, Christopher J McDermott, Nicolas Pageot,François Salachas, Nikhil Sharma, Marie-Hélène Soriani, Jemeen Sreedharan, Juliette Svahn, Nick Verber,Annie Verschueren, Ozlem Yildiz, Carey M Suehs, Safaa Saker-Delye, Claudie Muller,Christophe Masseguin, Hana Hajduchova,Janine Kirby,Cecilia Garlanda,Massimo Locati,Henrik Zetterberg, Bernard Asselain, Ammar Al-Chalabi, MIROCALS Study Group
Lancet (London, England)no. 10492 (2025): 1837-1850
Koen C Demaegd, Aoife Kernan,Johnathan Cooper-Knock,Joke J F A van Vugt,Calum Harvey,Tobias Moll,David O'Brien, Sarah Gornall, Luke Drury,Sali M K Farhan,Patrick A Dion,Guy A Rouleau, Andrea Western, Paul J Parsons,Benjamin Mclean,Michael Benatar,Leonard H van den Berg,Philip Van Damme,Jan Willem Dankbaar,Jeroen Hendrikse,Wouter Koole, Charlotte de Bie,Esther Hobson,Jan H Veldink, Bart van de Warrenburg, R Jeroen Pasterkamp,Wouter van Rheenen,Janine Kirby,Pamela J Shaw,Michael A van Es
European journal of human genetics EJHG (2025)
Sara Saez-Atienzar,Cleide dos Santos Souza,Ruth Chia, Selina N. Beal,Ileana Lorenzini,Ruili Huang,Jennifer Levy,Camelia Burciu,Jinhui Ding,J. Raphael Gibbs,Ashley Jones,Ramita Dewan,Viviana Pensato,Silvia Peverelli,Lucia Corrado,Joke J.F.A. van Vugt,Wouter van Rheenen,Ceren Tunca,Elif Bayraktar,Menghang Xia,Robert H. Baloh,Robert Bowser,Christopher B. Brady,Alexis Brice,James Broach,William Camu,Adriano Chio,John Cooper-Knock,Daniele Cusi,Carsten Drepper,Vivian E. Drory,Travis L. Dunckley, Eva Feldman,Mary Kay Floeter,Pietro Fratta,Glenn Gerhard,Summer B. Gibson,Jonathan D. Glass,Stephen A. Goutman,John Hardy,Matthew B. Harms,Terry D. Heiman-Patterson,Lilja Jansson,Janine Kirby,Hannu Laaksovirta,John E. Landers,Francesco Landi,Isabelle Le Ber,Serge Lumbroso,Claire Guissart,Daniel JL. MacGowan,Nicholas J. Maragakis,Gabriele Mora,Kevin Mouzat,Liisa Myllykangas,Richard W. Orrell,Lyle W. Ostrow,Stuart Pickering-Brown,Erik P. Pioro,Stefan M. Pulst,John M. Ravits,Alan E. Renton,Wim Robberecht,Ekaterina Rogaeva,Jeffrey D. Rothstein,Erika Salvi,Sonja W. Scholz,Michael Sendtner,Pamela J. Shaw,Katie C. Sidle,Zachary Simmons,David J. Stone,Pentti J. Tienari,Bryan J. Traynor,John Q. Trojanowski,Juan C. Troncoso,Miko Valori,Philip Van Damme,Vivianna M. Van Deerlin,Ludo Van Den Bosch,Lorne Zinman, Stefania M. Angelocola, Francesco P. Ausiello,Marco Barberis,Ilaria Bartolomei,Stefania Battistini,Enrica Bersano,Giulia Bisogni,Giuseppe Borghero,Maura Brunetti,Corrado Cabona,Andrea Calvo,Fabrizio Canale,Antonio Canosa, Teresa A. Cantisani,Margherita Capasso,Claudia Caponnetto,Patrizio Cardinali,Paola Carrera,Federico Casale,Tiziana Colletti,Francesca L. Conforti,Amelia Conte, Elisa Conti,Massimo Corbo,Stefania Cuccu,Eleonora Dalla Bella,Eustachio D'Errico, Giovanni DeMarco,Raffaele Dubbioso, Carlo Ferrarese,Pilar M. Ferraro,Massimo Filippi,Nicola Fini,Gianluca Floris,Giuseppe Fuda,Salvatore Gallone,Giulia Gianferrari,Fabio Giannini,Maurizio Grassano, Lucia Greco,Barbara Iazzolino,Alessandro Introna,Vincenzo La Bella,Serena Lattante,Giuseppe Lauria,Rocco Liguori,Giancarlo Logroscino,Francesco O. Logullo,Christian Lunetta,Paola Mandich,Jessica Mandrioli,Umberto Manera,Fiore Manganelli,Giuseppe Marangi,Kalliopi Marinou,Maria Giovanna Marrosu,Ilaria Martinelli,Sonia Messina,Cristina Moglia,Maria Rosaria Monsurrò,Lorena Mosca,Maria R. Murru,Paola Origone,Carla Passaniti,Cristina Petrelli,Antonio Petrucci, Angelo Pirisi,Susanna Pozzi,Maura Pugliatti,Angelo Quattrini,Claudia Ricci,Giulia Riolo,Nilo Riva,Massimo Russo,Mario Sabatelli,Paolina Salamone, Marco Salivetto,Fabrizio Salvi, Marialuisa Santarelli,Luca Sbaiz,Riccardo Sideri,Isabella Simone,Cecilia Simonini,Rossella Spataro,Raffaella Tanel,Gioacchino Tedeschi,Anna Ticca, Antonella Torriello,Stefania Tranquilli,Lucio Tremolizzo,Francesca Trojsi,Rosario Vasta,Veria Vacchiano, Giuseppe Vita,Paolo Volanti,Marcella Zollino,Elisabetta Zucchi,Vincenzo Silani,Isabella Fogh,Nicola Ticozzi,Antonia Ratti,Cinzia Tiloca,Cinzia Gellera,Giuseppe Lauria Pinter,Franco Taroni,Barbara Castellotti,Giacomo P. Comi,Stefania Corti,Roberto Del Bo,Cristina Cereda,Mauro Ceroni,Stella Gagliardi,Letizia Mazzini,Gianni Sorarù,Flavia Raggi,Gabriele Siciliano,Costanza Simoncini,Annalisa Lo Gerfo,Massimiliano Filosto,Maurizio Inghilleri,Alessandra Ferlini,Philippe Corcia,Philippe Couratier,Patrick Vourc'h,Orla Hardiman,Russell McLaughlin,Marc Gotkine, Vivian Drory,Jan H. van den Veldink,Leonard H. Berg,Mamede de Carvalho,Jesus S. Mora Pardina,Monica Povedano, Peter Andersen,Markus Weber,Ayşe Nazlı Başak,Ammar Al-Chalabi,Chris Shaw,Karen E. Morrison,Alfredo Iacoangeli,Aleksey Shatunov,Federico Verde,Kevin Kenna,Ahmad Al Khleifat,Sarah Opie-Martin,Stefano Cotti Piccinelli,Alessandro Padovani,Daniela Galimberti,Maria Serpente,Chiara Fenoglio,Elio Scarpini,Charles J. Curtis,Sang Hyuck Lee,Raymond Chung,Hamel Patel,Johnathan Cooper-Knock,Gerome Breen,Richard J.B. Dobson,Clifton L. Dalgard, Adelani Adeleye,Camille Alba,Dagmar Bacikova,Daniel N. Hupalo, Elisa McGrath Martinez,Anthony R. Soltis,Gauthaman Sukumar,Coralie Viollet,Matthew D. Wilkerson,Leonard H. van den Berg,Sandra D’Alfonso,Siddharthan Chandran,Suvankar Pal,Kory Johnson, Tara Doucet-O’Hare,Nicholas Pasternack,Tongguang Wang,Avindra Nath,Jan H. Veldink,Adriano Chiò,Rita Sattler,Christopher E. Shaw,Laura Ferraiuolo
Cell Genomics (2024)
Besarte Vrellaku, Ilda Sethw Hassan, Rebecca Howitt,Christopher P. Webster,Eli Harriss,Fraser McBlane,Corinne Betts, Jorge Schettini, Mattia Lion, John E. Mindur, Michael Duerr,Pamela J. Shaw,Janine Kirby,Mimoun Azzouz,Laurent Servais
Hugo Alarcan,Clement Bruno,Patrick Emond,Cedric Raoul,Patrick Vourc'h,Philippe Corcia,William Camu,Jean-Luc Veyrune,Cecilia Garlanda,Massimo Locati,Raul Juntas-Morales,Safaa Saker,Carey Suehs,Christophe Masseguin,Janine Kirby,Pamela Shaw,Andrea Malaspina,John De Vos,Ammar Al-Chalabi,P. Nigel Leigh,Timothy Tree,Gilbert Bensimon,Helene Blasco
Annals of the New York Academy of Sciencesno. 1 (2024): 82-91
International Review of Neurobiology (2024): 209-268
JOURNAL OF PATHOLOGYno. SUPPL1 (2023): S21-S21
Rachel Waller,Joanna J. Bury,Charlie Appleby-Mallinder,Matthew Wyles, George Loxley,Aditi Babel, Saleh Shekari,Mbombe Kazoka, Helen Wollff,Ammar Al-Chalabi,Paul R. Heath,Pamela J. Shaw,Janine Kirby
Scott P. P. Allen, Afnan Al Sultan, Elaine Kabucho Kibirige, Erin Tonkiss, Keaton J. J. Hamer, Lydia M. M. Castelli,Ya-Hui Lin,Sarah Roscoe, Nikolaos Stefanidis,Richard J. J. Mead,J. Robin Highley,Johnathan Cooper-Knock,Guillaume M. M. Hautbergue,Paul R. R. Heath,Janine Kirby,Pamela J. J. Shaw
FRONTIERS IN AGING NEUROSCIENCE (2023)
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Author Statistics
#Papers: 126
#Citation: 9240
H-Index: 48
G-Index: 96
Sociability: 7
Diversity: 3
Activity: 14
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