Researcher
Enrico Bugiardini
University College London
Statistics
6 papers found
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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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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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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