All papers authored by Enrico Bugiardini
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2023
Stephanie Efthymiou 
,
Richard J. L. F. Lemmers,
Venugopalan Y. Vishnu ,
Natalia Dominik,
Benedetta Perrone,
Stefano Facchini,
Elisa Vegezzi ,
Sabrina Ravaglia ,
Lindsay Wilson,
Patrick J. van der Vliet,
Rinkle Mishra,
Alisha Reyaz,
Tanveer Ahmad,
Rohit Bhatia,
James M. Polke
and 6 other authors
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,
Richard J. L. F. Lemmers,
Venugopalan Y. Vishnu ,
Natalia Dominik,
Benedetta Perrone,
Stefano Facchini,
Elisa Vegezzi ,
Sabrina Ravaglia ,
Lindsay Wilson,
Patrick J. van der Vliet,
Rinkle Mishra,
Alisha Reyaz,
Tanveer Ahmad,
Rohit Bhatia,
James M. Polke
and 6 other authors
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Stefano Facchini,
Natalia Dominik,
Arianna Manini,
Stephanie Efthymiou,
Riccardo Currò,
Bianca Rugginini,
Elisa Vegezzi ,
Ilaria Quartesan,
Benedetta Perrone,
Shahedah Koya Kutty,
Valentina Galassi Deforie,
Valentina Galassi Deforie ,
Ricardo P. Schnekenberg,
Elena Abati ,
Anna Pichiecchio
and 6 other authors
,
Ilaria Quartesan,
Benedetta Perrone,
Shahedah Koya Kutty,
Valentina Galassi Deforie,
Valentina Galassi Deforie ,
Ricardo P. Schnekenberg,
Elena Abati ,
Anna Pichiecchio
and 6 other authors
Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions
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Lindsay A. Wilson ,
William L. Macken ,
Luke D. Perry,
Christopher J. Record ,
Katherine R. Schon ,
Rodrigo S. S. Frezatti ,
Sharika Raga ,
Kireshnee Naidu ,
Özlem Yayıcı Köken,
Ipek Polat,
Musambo M. Kapapa,
Natalia Dominik,
Stephanie Efthymiou ,
Heba Morsy ,
Melissa Nel
and 67 other authors
,
William L. Macken ,
Luke D. Perry,
Christopher J. Record ,
Katherine R. Schon ,
Rodrigo S. S. Frezatti ,
Sharika Raga ,
Kireshnee Naidu ,
Özlem Yayıcı Köken,
Ipek Polat,
Musambo M. Kapapa,
Natalia Dominik,
Stephanie Efthymiou ,
Heba Morsy ,
Melissa Nel
and 67 other authors
Neuromuscular disease genetics in under-represented populations: increasing data diversity
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2021
Macarena Cabrera-Serrano ,
Laure Caccavelli,
Marco Savarese ,
Anna Vihola,
Manu Jokela,
Mridul Johari ,
Thierry Capiod,
Marine Madrange,
Enrico Bugiardini ,
Stefen Brady,
Rosaline Quinlivan,
Ashirwad Merve,
Renata Scalco,
David Hilton-Jones,
Henry Houlden
and 24 other authors
,
Laure Caccavelli,
Marco Savarese ,
Anna Vihola,
Manu Jokela,
Mridul Johari ,
Thierry Capiod,
Marine Madrange,
Enrico Bugiardini ,
Stefen Brady,
Rosaline Quinlivan,
Ashirwad Merve,
Renata Scalco,
David Hilton-Jones,
Henry Houlden
and 24 other authors
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
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Luis R. Lopes ,
David Murphy ,
Enrico Bugiardini ,
Reem Salem ,
Joanna Jager ,
Marta Futema ,
Mohammed Majid Akhtar ,
Konstantinos Savvatis ,
Cathy Woodward,
Alan M. Pittman,
Michael G. Hanna,
Petros Syrris ,
Robert D. S. Pitceathly ,
Perry M. Elliott
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,
David Murphy ,
Enrico Bugiardini ,
Reem Salem ,
Joanna Jager ,
Marta Futema ,
Mohammed Majid Akhtar ,
Konstantinos Savvatis ,
Cathy Woodward,
Alan M. Pittman,
Michael G. Hanna,
Petros Syrris ,
Robert D. S. Pitceathly ,
Perry M. Elliott
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2020
Isabel C. Hostettler ,
Benjamin O’Callaghan ,
Enrico Bugiardini ,
Emer O’Connor,
Jana Vandrovcova,
Indran Davagnanam ,
Varinder Alg,
Stephen Bonner,
Daniel Walsh ,
Diederik Bulters ,
Neil Kitchen,
Martin M. Brown,
Joan Grieve,
David J. Werring,
Henry Houlden
,
Benjamin O’Callaghan ,
Enrico Bugiardini ,
Emer O’Connor,
Jana Vandrovcova,
Indran Davagnanam ,
Varinder Alg,
Stephen Bonner,
Daniel Walsh ,
Diederik Bulters ,
Neil Kitchen,
Martin M. Brown,
Joan Grieve,
David J. Werring,
Henry Houlden
ANGPTL6 genetic variants are an underlying cause of familial intracranial aneurysms
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Andrea Cortese ,
Ilaria Callegari ,
Riccardo Currò,
Elisa Vegezzi ,
Silvia Colnaghi,
Maurizio Versino,
Enrico Alfonsi,
Giuseppe Cosentino,
Enzamaria Valente,
Simone Gana,
Cristina Tassorelli,
Anna Pichiecchio,
Alexander M. Rossor,
Enrico Bugiardini ,
Antonio Biroli
and 3 other authors
,
Ilaria Callegari ,
Riccardo Currò,
Elisa Vegezzi ,
Silvia Colnaghi,
Maurizio Versino,
Enrico Alfonsi,
Giuseppe Cosentino,
Enzamaria Valente,
Simone Gana,
Cristina Tassorelli,
Anna Pichiecchio,
Alexander M. Rossor,
Enrico Bugiardini ,
Antonio Biroli
and 3 other authors
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic
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Enrico Bugiardini ,
Emanuela Bottani,
Silvia Marchet,
Olivia V. Poole,
Cristiane Beninca ,
Alejandro Horga ,
Cathy Woodward,
Amanda Lam,
Iain Hargreaves,
Annapurna Chalasani,
Alessandra Valerio,
Eleonora Lamantea ,
Kerrie Venner,
Janice L. Holton,
Massimo Zeviani
and 5 other authors
,
Emanuela Bottani,
Silvia Marchet,
Olivia V. Poole,
Cristiane Beninca ,
Alejandro Horga ,
Cathy Woodward,
Amanda Lam,
Iain Hargreaves,
Annapurna Chalasani,
Alessandra Valerio,
Eleonora Lamantea ,
Kerrie Venner,
Janice L. Holton,
Massimo Zeviani
and 5 other authors
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations
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2019
Enrico Bugiardini ,
Simon Pope ,
René G. Feichtinger ,
Olivia V. Poole,
Alan M. Pittman,
Cathy E. Woodward,
Simon Heales,
Rosaline Quinlivan,
Henry Houlden,
Johannes A. Mayr,
Michael G. Hanna,
Robert D. S. Pitceathly
,
Simon Pope ,
René G. Feichtinger ,
Olivia V. Poole,
Alan M. Pittman,
Cathy E. Woodward,
Simon Heales,
Rosaline Quinlivan,
Henry Houlden,
Johannes A. Mayr,
Michael G. Hanna,
Robert D. S. Pitceathly
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases
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