Works by Bugiardini, Enrico

Results: 30

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 991, doi. 10.3390/jcm8070991

By:

Bugiardini, Enrico;
Pope, Simon;
Feichtinger, René G.;
Poole, Olivia V.;
Pittman, Alan M.;
Woodward, Cathy E.;
Heales, Simon;
Quinlivan, Rosaline;
Houlden, Henry;
Mayr, Johannes A.;
Hanna, Michael G.;
Pitceathly, Robert D.S.

Publication type:

Article

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 7, p. 991, doi. 10.3390/jcm8070991

By:

Bugiardini, Enrico;
Pope, Simon;
Feichtinger, René G.;
Poole, Olivia V.;
Pittman, Alan M.;
Woodward, Cathy E.;
Heales, Simon;
Quinlivan, Rosaline;
Houlden, Henry;
Mayr, Johannes A.;
Hanna, Michael G.;
Pitceathly, Robert D.S.

Publication type:

Article

Long-term Safety and Efficacy of Mexiletine for Patients With Skeletal Muscle Channelopathies.

Published in:

JAMA Neurology, 2015, v. 72, n. 12, p. 1531, doi. 10.1001/jamaneurol.2015.2338

By:

Suetterlin, Karen Joan;
Bugiardini, Enrico;
Kaski, Juan P.;
Morrow, Jasper M.;
Matthews, Emma;
Hanna, Michael G.;
Fialho, Doreen

Publication type:

Article

Mitochondrial Strokes: Diagnostic Challenges and Chameleons.

Published in:

Genes, 2021, v. 12, n. 10, p. 1643, doi. 10.3390/genes12101643

By:

Pizzamiglio, Chiara;
Bugiardini, Enrico;
Macken, William L.;
Woodward, Cathy E.;
Hanna, Michael G.;
Pitceathly, Robert D. S.

Publication type:

Article

Anhidrosis in multiple system atrophy: A preganglionic sudomotor dysfunction?

Published in:

Movement Disorders, 2008, v. 23, n. 6, p. 885, doi. 10.1002/mds.21972

By:

Donadio, Vincenzo;
Nolano, Maria;
Elam, Mikael;
Montagna, Pasquale;
Provitera, Vincenzo;
Bugiardini, Enrico;
Baruzzi, Agostino;
Santoro, Lucio;
Liguori, Rocco

Publication type:

Article

Genome Wide Identification of Aberrant Alternative Splicing Events in Myotonic Dystrophy Type 2.

Published in:

PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0093983

By:

Perfetti, Alessandra;
Greco, Simona;
Fasanaro, Pasquale;
Bugiardini, Enrico;
Cardani, Rosanna;
Manteiga, Jose M. Garcia.;
Riba, Michela;
Cittaro, Davide;
Stupka, Elia;
Meola, Giovanni;
Martelli, Fabio

Publication type:

Article

Overexpression of CUGBP1 in Skeletal Muscle from Adult Classic Myotonic Dystrophy Type 1 but Not from Myotonic Dystrophy Type 2.

Published in:

PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0083777

By:

Cardani, Rosanna;
Bugiardini, Enrico;
Renna, Laura V.;
Rossi, Giulia;
Colombo, Graziano;
Valaperta, Rea;
Novelli, Giuseppe;
Botta, Annalisa;
Meola, Giovanni

Publication type:

Article

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 16, p. 2711, doi. 10.1093/hmg/ddz093

By:

Bugiardini, Enrico;
Mitchell, Alice L;
Rosa, Ilaria Dalla;
Horning-Do, Hue-Tran;
Pitmann, Alan M;
Poole, Olivia V;
Holton, Janice L;
Shah, Sachit;
Woodward, Cathy;
Hargreaves, Iain;
Quinlivan, Rosaline;
Amunts, Alexey;
Wiesner, Rudolf J;
Houlden, Henry;
Holt, Ian J;
Hanna, Michael G;
Pitceathly, Robert D S;
Spinazzola, Antonella

Publication type:

Article

Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.

Published in:

Brain: A Journal of Neurology, 2024, v. 147, n. 2, p. 414, doi. 10.1093/brain/awad312

By:

Lemmers, Richard J L F;
Butterfield, Russell;
Vliet, Patrick J van der;
Bleecker, Jan L de;
van der Pol, Ludo;
Dunn, Diane M;
Erasmus, Corrie E;
D'Hooghe, Marc;
Verhoeven, Kristof;
Balog, Judit;
Bigot, Anne;
Engelen, Baziel van;
Statland, Jeffrey;
Bugiardini, Enrico;
van der Stoep, Nienke;
Evangelista, Teresinha;
Marini-Bettolo, Chiara;
van den Bergh, Peter;
Tawil, Rabi;
Voermans, Nicol C

Publication type:

Article

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.

Published in:

2022

By:

Cabrera-Serrano, Macarena;
Caccavelli, Laure;
Savarese, Marco;
Vihola, Anna;
Jokela, Manu;
Johari, Mridul;
Capiod, Thierry;
Madrange, Marine;
Bugiardini, Enrico;
Brady, Stefen;
Quinlivan, Rosaline;
Merve, Ashirwad;
Scalco, Renata;
Hilton-Jones, David;
Houlden, Henry;
Aydin, Halil Ibrahim;
Ceylaner, Serdar;
Drewes, Sarah;
Vockley, Jerry;
Taylor, Rhonda L

Publication type:

journal article

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.

Published in:

2018

By:

Castañeda, Marisol Sampedro;
Zanoteli, Edmar;
Scalco, Renata S;
Scaramuzzi, Vinicius;
Caldas, Vitor Marques;
Reed, Umbertina Conti;
Silva, Andre Macedo Serafim da;
O'Callaghan, Benjamin;
Phadke, Rahul;
Bugiardini, Enrico;
Sampedro Castañeda, Marisol;
Marques Caldas, Vitor;
Conti Reed, Umbertina;
da Silva, Andre Macedo Serafim;
Sud, Richa;
McCall, Samuel;
Hanna, Michael G;
Poulsen, Hanne;
Männikkö, Roope;
Matthews, Emma

Publication type:

journal article

Clinical and genetic characterization of leukoencephalopathies in adults.

Published in:

2017

By:

Lynch, David S.;
de Paiva, Anderson Rodrigues Brandão;
Wei Jia Zhang;
Bugiardini, Enrico;
Freua, Fernando;
Lucato, Leandro Tavares;
Macedo-Souza, Lucia Inês;
Lakshmanan, Rahul;
Kinsella, Justin A.;
Merwick, Aine;
Rossor, Alexander M.;
Bajaj, Nin;
Herron, Brian;
McMonagle, Paul;
Morrison, Patrick J.;
Hughes, Deborah;
Pittman, Alan;
Laura, Matilde;
Reilly, Mary M.;
Warren, Jason D.

Publication type:

journal article

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.

Published in:

2021

By:

Poole, Olivia V.;
Pizzamiglio, Chiara;
Murphy, David;
Falabella, Micol;
Macken, William L.;
Bugiardini, Enrico;
Woodward, Cathy E.;
Labrum, Robyn;
Efthymiou, Stephanie;
Salpietro, Vincenzo;
Chelban, Viorica;
Kaiyrzhanov, Rauan;
Maroofian, Reza;
Amato, Anthony A.;
Gregory, Allison;
Hayflick, Susan J.;
Jonvik, Hallgeir;
Wood, Nicholas;
Houlden, Henry;
Vandrovcova, Jana

Publication type:

journal article

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.

Published in:

2019

By:

Ng, Yi Shiau;
Martikainen, Mika H.;
Gorman, Gráinne S.;
Blain, Alasdair;
Bugiardini, Enrico;
Bunting, Apphia;
Schaefer, Andrew M.;
Alston, Charlotte L.;
Blakely, Emma L.;
Sharma, Sunil;
Hughes, Imelda;
Lim, Albert;
de Goede, Christian;
McEntagart, Meriel;
Spinty, Stefan;
Horrocks, Iain;
Roberts, Mark;
Woodward, Cathy E.;
Chinnery, Patrick F.;
Horvath, Rita

Publication type:

journal article

GSK3β mediates muscle pathology in myotonic dystrophy.

Published in:

2012

By:

Jones K;
Wei C;
Iakova P;
Bugiardini E;
Schneider-Gold C;
Meola G;
Woodgett J;
Killian J;
Timchenko NA;
Timchenko LT;
Jones, Karlie;
Wei, Christina;
Iakova, Polina;
Bugiardini, Enrico;
Schneider-Gold, Christiane;
Meola, Giovanni;
Woodgett, James;
Killian, James;
Timchenko, Nikolai A;
Timchenko, Lubov T

Publication type:

journal article

GSK3ß mediates muscle pathology in myotonic dystrophy.

Published in:

Journal of Clinical Investigation, 2012, v. 122, n. 12, p. 4461, doi. 10.1172/JCI64081

By:

Jones, Karlie;
Wei, Christina;
Iakova, Polina;
Bugiardini, Enrico;
Schneider-Gold, Christiane;
Meola, Giovanni;
Woodgett, James;
Killian, James;
Timchenko, Nikolai A.;
Timchenko, Lubov T.

Publication type:

Article

Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions.

Published in:

Biomolecules (2218-273X), 2023, v. 13, n. 10, p. 1546, doi. 10.3390/biom13101546

By:

Facchini, Stefano;
Dominik, Natalia;
Manini, Arianna;
Efthymiou, Stephanie;
Currò, Riccardo;
Rugginini, Bianca;
Vegezzi, Elisa;
Quartesan, Ilaria;
Perrone, Benedetta;
Kutty, Shahedah Koya;
Galassi Deforie, Valentina;
Schnekenberg, Ricardo P.;
Abati, Elena;
Pichiecchio, Anna;
Valente, Enza Maria;
Tassorelli, Cristina;
Reilly, Mary M.;
Houlden, Henry;
Bugiardini, Enrico;
Cortese, Andrea

Publication type:

Article

Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts.

Published in:

European Journal of Neurology, 2024, v. 31, n. 1, p. 1, doi. 10.1111/ene.16063

By:

Cortese, Andrea;
Currò, Riccardo;
Ronco, Riccardo;
Blake, Julian;
Rossor, Alex M.;
Bugiardini, Enrico;
Laurà, Matilde;
Warner, Tom;
Yousry, Tarek;
Poh, Roy;
Polke, James;
Rebelo, Adriana;
Dohrn, Maike F.;
Saporta, Mario;
Houlden, Henry;
Zuchner, Stephan;
Reilly, Mary M.

Publication type:

Article

Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.

Published in:

2022

By:

Bugiardini, Enrico;
Nunes, Andreia M.;
Oliveira-Santos, Ariany;
Dagda, Marisela;
Fontelonga, Tatiana M.;
Barraza-Flores, Pamela;
Pittman, Alan M.;
Morrow, Jasper M.;
Parton, Matthew;
Houlden, Henry;
Elliott, Perry M.;
Syrris, Petros;
Maas, Roderick P.;
Akhtar, Mohammed M.;
Küsters, Benno;
Raaphorst, Joost;
Schouten, Meyke;
Kamsteeg, Erik-Jan;
van Engelen, Baziel;
Hanna, Michael G.

Publication type:

journal article

Gonadal failure is associated with visceral adiposity in myotonic dystrophies.

Published in:

European Journal of Clinical Investigation, 2015, v. 45, n. 7, p. 702, doi. 10.1111/eci.12459

By:

Passeri, Elena;
Bugiardini, Enrico;
Sansone, Valeria A.;
Pizzocaro, Alessandro;
Fulceri, Cinzia;
Valaperta, Rea;
Borgato, Stefano;
Costa, Elena;
Bandera, Francesco;
Ambrosi, Bruno;
Meola, Giovanni;
Persani, Luca;
Corbetta, Sabrina

Publication type:

Article

Small fiber neuropathy in female patients with fabry disease.

Published in:

Muscle & Nerve, 2010, v. 41, n. 3, p. 409, doi. 10.1002/mus.21606

By:

Liguori, Rocco;
Di Stasi, Vitantonio;
Bugiardini, Enrico;
Mignani, Renzo;
Burlina, Alessandro;
Borsini, Walter;
Baruzzi, Agostino;
Montagna, Pasquale;
Donadio, Vincenzo

Publication type:

Article

Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.

Published in:

Molecular Biology Reports, 2021, v. 48, n. 3, p. 2093, doi. 10.1007/s11033-021-06188-1

By:

Horga, Alejandro;
Manole, Andreea;
Mitchell, Alice L.;
Bugiardini, Enrico;
Hargreaves, Iain P.;
Mowafi, Walied;
Bettencourt, Conceição;
Blakely, Emma L.;
He, Langping;
Polke, James M.;
Woodward, Catherine E.;
Dalla Rosa, Ilaria;
Shah, Sachit;
Pittman, Alan M.;
Quinlivan, Ros;
Reilly, Mary M.;
Taylor, Robert W.;
Holt, Ian J.;
Hanna, Michael G.;
Pitceathly, Robert D. S.

Publication type:

Article

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.

Published in:

Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00456

By:

Bugiardini, Enrico;
Morrow, Jasper M.;
Shah, Sachit;
Wood, Claire L.;
Lynch, David S.;
Pitmann, Alan M.;
Reilly, Mary M.;
Houlden, Henry;
Matthews, Emma;
Parton, Matt;
Hanna, Michael G.;
Straub, Volker;
Yousry, Tarek A.

Publication type:

Article

A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 22, p. 16147, doi. 10.3390/ijms242216147

By:

Robaszkiewicz, Katarzyna;
Siatkowska, Małgorzata;
Wadman, Renske I.;
Kamsteeg, Erik-Jan;
Chen, Zhiyong;
Merve, Ashirwad;
Parton, Matthew;
Bugiardini, Enrico;
de Bie, Charlotte;
Moraczewska, Joanna

Publication type:

Article

Sympathetic and cardiovascular activity during cataplexy in narcolepsy.

Published in:

Journal of Sleep Research, 2008, v. 17, n. 4, p. 458, doi. 10.1111/j.1365-2869.2008.00682.x

By:

DONADIO, VINCENZO;
PLAZZI, GIUSEPPE;
VANDI, STEFANO;
FRANCESCHINI, CHRISTIAN;
KARLSSON, TOMAS;
MONTAGNA, PASQUALE;
VETRUGNO, ROBERTO;
BUGIARDINI, ENRICO;
MIGNOT, EMMANUEL;
LIGUORI, ROCCO

Publication type:

Article

Daytime sympathetic hyperactivity in OSAS is related to excessive daytime sleepiness.

Published in:

Journal of Sleep Research, 2007, v. 16, n. 3, p. 327, doi. 10.1111/j.1365-2869.2007.00602.x

By:

DONADIO, VINCENZO;
LIGUORI, ROCCO;
VETRUGNO, ROBERTO;
CONTIN, MANUELA;
ELAM, MIKAEL;
WALLIN, B. GUNNAR;
KARLSSON, TOMAS;
BUGIARDINI, ENRICO;
BARUZZI, AGOSTINO;
MONTAGNA, PASQUALE

Publication type:

Article

Wernicke's encephalopathy, refeeding syndrome and wet beriberi after laparoscopic sleeve gastrectomy: the importance of thiamine evaluation.

Published in:

2020

By:

Pacei, Federico;
Iaccarino, Laura;
Bugiardini, Enrico;
Dadone, Viola;
De Toni Franceschini, Luisa;
Colombo, Chiara

Publication type:

journal article

Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.

Published in:

Expert Review of Molecular Diagnostics, 2023, v. 23, n. 9, p. 797, doi. 10.1080/14737159.2023.2241365

By:

Macken, William L.;
Falabella, Micol;
Pizzamiglio, Chiara;
Woodward, Cathy E.;
Scotchman, Elizabeth;
Chitty, Lyn S.;
Polke, James M.;
Bugiardini, Enrico;
Hanna, Michael G.;
Vandrovcova, Jana;
Chandler, Natalie;
Labrum, Robyn;
Pitceathly, Robert D.S.

Publication type:

Article

Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2.

Published in:

Journal of Neurology, 2012, v. 259, n. 10, p. 2090, doi. 10.1007/s00415-012-6462-1

By:

Cardani, Rosanna;
Giagnacovo, Marzia;
Botta, Annalisa;
Rinaldi, Fabrizio;
Morgante, Alessandra;
Udd, Bjarne;
Raheem, Olayinka;
Penttilä, Sini;
Suominen, Tiina;
Renna, Laura;
Sansone, Valeria;
Bugiardini, Enrico;
Novelli, Giuseppe;
Meola, Giovanni

Publication type:

Article

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.

Published in:

Human Genetics, 2019, v. 138, n. 11/12, p. 1313, doi. 10.1007/s00439-019-02075-9

By:

Horga, Alejandro;
Woodward, Catherine E.;
Mills, Alberto;
Pareés, Isabel;
Hargreaves, Iain P.;
Brown, Ruth M.;
Bugiardini, Enrico;
Brooks, Tony;
Manole, Andreea;
Remzova, Elena;
Rahman, Shamima;
Reilly, Mary M.;
Houlden, Henry;
Sweeney, Mary G.;
Brown, Garry K.;
Polke, James M.;
Gago, Federico;
Parton, Matthew J.;
Pitceathly, Robert D. S.;
Hanna, Michael G.

Publication type:

Article