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Clinical and genetic characterization of leukoencephalopathies in adults
Lynch, David S., Rodrigues Brandão de Paiva, Anderson, Zhang, Wei Jia, Bugiardini, Enrico, Freua, Fernando, Tavares Lucato, Leandro, 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, Laurà, Matilde, Reilly, Mary M, Warren, Jason D, Mummery, Catherine J, Schott, Jonathan M., Adams, Matthew, Fox, Nick C., Murphy, Elaine, Davagnanam, Indran, Kok, Fernando, Chataway, Jeremy, Houlden, Henry
Published in Brain (London, England : 1878) (01.05.2017)
Published in Brain (London, England : 1878) (01.05.2017)
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Journal Article
Wernicke’s encephalopathy, refeeding syndrome and wet beriberi after laparoscopic sleeve gastrectomy: the importance of thiamine evaluation
Pacei, Federico, Iaccarino, Laura, Bugiardini, Enrico, Dadone, Viola, De Toni Franceschini, Luisa, Colombo, Chiara
Published in European journal of clinical nutrition (01.04.2020)
Published in European journal of clinical nutrition (01.04.2020)
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Journal Article
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy
Lemmers, Richard J L F, Butterfield, Russell, van der Vliet, Patrick J, de Bleecker, Jan L, van der Pol, Ludo, Dunn, Diane M, Erasmus, Corrie E, D'Hooghe, Marc, Verhoeven, Kristof, Balog, Judit, Bigot, Anne, van Engelen, Baziel, Statland, Jeffrey, Bugiardini, Enrico, van der Stoep, Nienke, Evangelista, Teresinha, Marini-Bettolo, Chiara, van den Bergh, Peter, Tawil, Rabi, Voermans, Nicol C, Vissing, John, Weiss, Robert B, van der Maarel, Silvère M
Published in Brain (01.02.2024)
Published in Brain (01.02.2024)
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Journal Article
Primary mitochondrial diseases increase susceptibility to bipolar affective disorder
Colasanti, Alessandro, Bugiardini, Enrico, Amawi, Sami, Poole, Olivia V, Skorupinska, Iwona, Skorupinska, Mariola, Germain, Louise, Kozyra, Damian, Holmes, Sarah, James, Natalie, Woodward, Cathy E, Quinlivan, Rosaline, Young, Allan H, Hanna, Michael G, Pitceathly, Robert D S
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2020)
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2020)
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Journal Article
Plasma microRNAs as biomarkers for myotonic dystrophy type 1
Perfetti, Alessandra, Greco, Simona, Bugiardini, Enrico, Cardani, Rosanna, Gaia, Paola, Gaetano, Carlo, Meola, Giovanni, Martelli, Fabio
Published in Neuromuscular disorders : NMD (01.06.2014)
Published in Neuromuscular disorders : NMD (01.06.2014)
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Journal Article
Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions
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
Published in Biomolecules (Basel, Switzerland) (01.10.2023)
Published in Biomolecules (Basel, Switzerland) (01.10.2023)
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Journal Article
Cell environment shapes TDP-43 function with implications in neuronal and muscle disease
Šušnjar, Urša, Škrabar, Neva, Brown, Anna-Leigh, Abbassi, Yasmine, Phatnani, Hemali, Cortese, Andrea, Cereda, Cristina, Bugiardini, Enrico, Cardani, Rosanna, Meola, Giovanni, Ripolone, Michela, Moggio, Maurizio, Romano, Maurizio, Secrier, Maria, Fratta, Pietro, Buratti, Emanuele
Published in Communications biology (05.04.2022)
Published in Communications biology (05.04.2022)
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Journal Article
Integrin α7 Mutations Are Associated With Adult‐Onset Cardiac Dysfunction in Humans and Mice
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., Phadke, Rahul, Lopes, Luis R., Matthews, Emma, Burkin, Dean J.
Published in Journal of the American Heart Association (06.12.2022)
Published in Journal of the American Heart Association (06.12.2022)
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Journal Article
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges
Efthymiou, Stephanie, Lemmers, Richard J. L. F., Vishnu, Venugopalan Y., Dominik, Natalia, Perrone, Benedetta, Facchini, Stefano, Vegezzi, Elisa, Ravaglia, Sabrina, Wilson, Lindsay, van der Vliet, Patrick J., Mishra, Rinkle, Reyaz, Alisha, Ahmad, Tanveer, Bhatia, Rohit, Polke, James M., Srivastava, Mv Padma, Cortese, Andrea, Houlden, Henry, van der Maarel, Silvère M., Hanna, Michael G., Bugiardini, Enrico
Published in Biomolecules (Basel, Switzerland) (24.10.2023)
Published in Biomolecules (Basel, Switzerland) (24.10.2023)
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Journal Article
The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies
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.
Published in Frontiers in neurology (26.06.2018)
Published in Frontiers in neurology (26.06.2018)
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Journal Article
Overexpression of CUGBP1 in Skeletal Muscle from Adult Classic Myotonic Dystrophy Type 1 but Not from Myotonic Dystrophy Type 2
Cardani, Rosanna, Bugiardini, Enrico, Renna, Laura V., Rossi, Giulia, Colombo, Graziano, Valaperta, Rea, Novelli, Giuseppe, Botta, Annalisa, Meola, Giovanni
Published in PloS one (20.12.2013)
Published in PloS one (20.12.2013)
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Journal Article
Genome Wide Identification of Aberrant Alternative Splicing Events in Myotonic Dystrophy Type 2
Perfetti, Alessandra, Greco, Simona, Fasanaro, Pasquale, Bugiardini, Enrico, Cardani, Rosanna, Manteiga, Jose M. Garcia, Riba, Michela, Cittaro, Davide, Stupka, Elia, Meola, Giovanni, Martelli, Fabio
Published in PloS one (01.04.2014)
Published in PloS one (01.04.2014)
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Journal Article
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease
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., Spinazzola, Antonella, Houlden, Henry
Published in Molecular biology reports (01.03.2021)
Published in Molecular biology reports (01.03.2021)
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Journal Article
Anhidrosis in multiple system atrophy: A preganglionic sudomotor dysfunction?
Donadio, Vincenzo, Nolano, Maria, Elam, Mikael, Montagna, Pasquale, Provitera, Vincenzo, Bugiardini, Enrico, Baruzzi, Agostino, Santoro, Lucio, Liguori, Rocco
Published in Movement disorders (30.04.2008)
Published in Movement disorders (30.04.2008)
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Journal Article
Sympathetic and cardiovascular activity during cataplexy in narcolepsy
DONADIO, VINCENZO, PLAZZI, GIUSEPPE, VANDI, STEFANO, FRANCESCHINI, CHRISTIAN, KARLSSON, TOMAS, MONTAGNA, PASQUALE, VETRUGNO, ROBERTO, BUGIARDINI, ENRICO, MIGNOT, EMMANUEL, LIGUORI, ROCCO
Published in Journal of sleep research (01.12.2008)
Published in Journal of sleep research (01.12.2008)
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Journal Article
GSK3β mediates muscle pathology in myotonic dystrophy
Jones, Karlie, Wei, Christina, Iakova, Polina, Bugiardini, Enrico, Schneider-Gold, Christiane, Meola, Giovanni, Woodgett, James, Killian, James, Timchenko, Nikolai A., Timchenko, Lubov T.
Published in The Journal of clinical investigation (01.12.2012)
Published in The Journal of clinical investigation (01.12.2012)
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Journal Article
A Novel Variant in ITPM3/I Causing Muscle Weakness and Concomitant Hypercontractile Phenotype
Robaszkiewicz, Katarzyna, Siatkowska, Małgorzata, Wadman, Renske I, Kamsteeg, Erik-Jan, Chen, Zhiyong, Merve, Ashirwad, Parton, Matthew, Bugiardini, Enrico, de Bie, Charlotte, Moraczewska, Joanna
Published in International journal of molecular sciences (01.11.2023)
Published in International journal of molecular sciences (01.11.2023)
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Journal Article
Anti-HMGCR myopathy: barriers to prompt recognition
Barp, Andrea, Merve, Ashirwad, Shah, Sachit, Desikan, Mahalekshmi, Hanna, Michael G, Bugiardini, Enrico
Published in Practical neurology (01.06.2023)
Published in Practical neurology (01.06.2023)
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Journal Article
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
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, Folland, Chiara, Kelly, Aasta, Goullee, Hayley, Ylikallio, Emil, Auranen, Mari, Tyynismaa, Henna, Udd, Bjarne, Forrest, Alistair R R, Davis, Mark R, Bratkovic, Drago, Manton, Nicholas, Robertson, Thomas, O’Gorman, Cullen, McCombe, Pamela, Laing, Nigel G, Phillips, Liza, de Lonlay, Pascale, Ravenscroft, Gianina
Published in Brain (London, England : 1878) (21.11.2022)
Published in Brain (London, England : 1878) (21.11.2022)
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Journal Article
A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype
Robaszkiewicz, Katarzyna, Siatkowska, Małgorzata, Wadman, Renske I., Kamsteeg, Erik-Jan, Chen, Zhiyong, Merve, Ashirwad, Parton, Matthew, Bugiardini, Enrico, de Bie, Charlotte, Moraczewska, Joanna
Published in International journal of molecular sciences (09.11.2023)
Published in International journal of molecular sciences (09.11.2023)
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Journal Article