Found: 29

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  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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