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Autor:
David Hilton-Jones, Martin R. Turner
Part of the Oxford Textbooks in Clinical Neurology series, the Oxford Textbook of Neuromuscular Disorders covers the scientific basis, clinical diagnosis, and treatment of neuromuscular disorders with a particular focus on the most clinically relevan
Autor:
Astrid Emilie Buch, Olimpia Musumeci, Ralph Wigley, Mads Peter Godtfeldt Stemmerik, Anne‐Sofie Vibæk Eisum, Karen Lindhardt Madsen, Nicolai Preisler, David Hilton‐Jones, Ros Quinlivan, Antonio Toscano, John Vissing
Publikováno v:
JIMD Reports, Vol 61, Iss 1, Pp 60-66 (2021)
Abstract Aim To investigate the in vivo skeletal muscle metabolism in patients with β‐enolase deficiency (GSDXIII) during exercise, and the effect of glucose infusion. Methods Three patients with GSDXIII and 10 healthy controls performed a nonisch
Externí odkaz:
https://doaj.org/article/8313443dd69843c1baabfa14bfbebf34
Autor:
Ralph Wigley, Renata S. Scalco, Alice R. Gardiner, Richard Godfrey, Suzanne Booth, Richard Kirk, David Hilton‐Jones, Henry Houlden, Simon Heales, Ros Quinlivan
Publikováno v:
JIMD Reports, Vol 50, Iss 1, Pp 40-43 (2019)
Abstract Glycogen storage disease type XIII (GSDXIII) is a very rare inherited metabolic myopathy characterized by autosomal‐recessive mutations in the ENO3 gene resulting in muscle β‐enolase deficiency, an enzymatic defect of the distal part of
Externí odkaz:
https://doaj.org/article/d63845f6ecd14928a17ec77c31c2009f
Autor:
Cutter, Gary, Aban, Inmaculada, Minisman, Greg, Feese, Michelle, Kuo, Hui-Chien, Newsom-Davis, John, Wolfe, Gil, Kaminski, Henry, Jaretzki, Alfred, Sonett, Joshua, Mazia, Claudio, Saluto, Valeria, Rosenberg, Moises, Alvarez, Valeria, Rey, Lisa, King, John, Butzkueven, Helmut, Goldblatt, John, Carey, John, Pollard, John, Reddel, Stephen, Handel, Nicholas, McCaughan, Brian, Pallot, Linda, Waddington-Cruz, Márcia, Novis, Ricardo, Boasquevisque, Carlos, Dias-Tosta, Elza, Morato-Fernandez, Rubens, Ximenes, Manoel, Werneck, Lineu, Scola, Rosana, Soltoski, Paulo, Chalk, Colin, Moore, Fraser, Mulder, David, Wadup, Lisa, Oger, Joel, Mezei, Michele, Evans, Kenneth, Jiwa, Theresa, Schaffar, Anne, White, Chris, Toth, Cory, Gelfand, Gary, Wood, Susan, Pringle, Elizabeth, Zwicker, Jocelyn, Maziak, Donna, Shamji, Farid, Sundaresan, Sudhir, Seely, Andrew, Cea, Gabriel, Verduga, Renato, Aguayo, Alberto, Jander, Sebastian, Zickler, Philipp, Klein, Michael, Marx, Alexander, Ströbel, Philipp, Weis, Cleo-Aron, Melms, Arthur, Bischof, Felix, Aebert, Hermann, Ziemer, Gerhard, Nix, Wilfred, Thümler, Björn, Wilhem-Schwenkmezger, Thomas, Mayer, Eckhard, Schalke, Berthold, Pöschel, Peter, Hieber, Gisela, Wiebe, Karsten, Antonini, Giovanni, Clemenzi, Alessandro, Ceschin, Vanessa, Rendina, Erino, Venuta, Federico, Morino, Stefania, Bucci, Elisabetta, Durelli, Luca, Tavella, Alessia, Clerico, Marinella, Contessa, Giulia, Borasio, Piero, Evoli, Amelia, Servidei, Serenella, Granone, Pierluigi, Mantegazza, Renato, Berta, Emilia, Novellino, Lorenzo, Spinelli, Luisa, Motomura, Masakatsu, Matsuo, Hidenori, Nagayasu, Takeshi, Yoshikawa, Hiroaki, Takamori, Masaharu, Oda, Makoto, Matsumoto, Isao, Furukawa, Yutaka, Noto, Daisuke, Motozaki, Yuko, Iwasa, Kazuo, Yanase, Daisuke, Garcia Ramos, Guillermo, Cacho, Bernardo, de la Garza, Lorenzo, Kostera-Pruszczyk, Anne, Lipowska, Marta, Kwiecinski, Hubert, Potulska-Chromik, Anna, Orlowski, Tadeusz, Silva, Ana, Feijo, Marta, Freitas, António, Heckmann, Jeannine, Frost, Andrew, Pan, Edward, Tucker, Lawrence, Rossouw, Johan, Drummond, Fiona, Illa, Isabel, Diaz, Jorge, Leon, Carlos, Yeh, Jiann-Horng, Chiu, Hou-Chang, Hsieh, Yei-San, Witoonpanich, Rawiphan, Tunlayadechanont, Supoch, Attanavanich, Sukasom, Verschuuren, Jan, Straathof, Chiara, Titulaer, Maarten, Versteegh, Michel, Pels, Arda, Krum, Yvonne, Buckley, Camilla, Leite, M. Isabel, Vincent, Angela, Hilton-Jones, David, Ratnatunga, Chandi, Farrugia, Maria, Petty, Richard, Overell, James, Kirk, Alan, Gibson, Andrew, McDermott, Chris, Hopkinson, David, Lecky, Bryan, Watling, David, Marshall, Dot, Saminaden, Sam, Davies, Deborah, Dougan, Charlotte, Sathasivam, Siva, Page, Richard, Sussman, Jon, Ealing, John, Krysiak, Peter, Amato, Anthony, Salajegheh, Mohammad, Jaklitsch, Michael, Roe, Kristen, Ashizawa, Tetsuo, Smith, Robert Glenn, Zwischenberg, Joseph, Stanton, Penny, Barboi, Alexandru, Jaradeh, Safwan, Tisol, William, Gasparri, Mario, Haasler, George, Yellick, Mary, Dennis, Cedric, Barohn, Richard, Pasnoor, Mamatha, Dimachkie, Mazen, McVey, April, Gronseth, Gary, Dick, Arthur, Kramer, Jeffrey, Currence, Melissa, Herbelin, Laura, Belsh, Jerry, Li, George, Langenfeld, John, Mertz, Mary Ann, Benatar, Michael, Harrison, Taylor, Force, Seth, Usher, Sharon, Beydoun, Said, Lin, Frank, DeMeester, Steve, Akhter, Salem, Malekniazi, Ali, Avenido, Gina, Crum, Brian, Milone, Margherita, Cassivi, Stephen, Fisher, Janet, Ciafaloni, Emma, Heatwole, Chad, Watson, Thomas, Hilbert, James, Smirnow, Alexis, Distad, B. Jane, Weiss, Michael, Wood, Douglas, Haug, Joanna, Ernstoff, Raina, Cao, Jingyang, Chmielewski, Gary, Welsh, Robert, Duris, Robin, Gutmann, Laurie, Pawar, Gauri, Graeber, Geoffrey Marc, Altemus, Patricia, Nance, Christopher, Gutmann, Ludwig, Jackson, Carlayne, Grogan, Patrick, Calhoon, John, Kittrell, Pamela, Myers, Deborah, Hayat, Ghazala, Naunheim, Keith, Eller, Susan, Holzemer, Eve, Katirji, Bashar, Alshekhlee, Amer, Robke, Jason, Karlinchak, Brenda, Katz, Jonathan, Miller, Robert, Roan, Ralph, Forshew, Dallas, Kissel, John, Elsheikh, Bakri, Ross, Patrick, Chelnick, Sharon, Lewis, Richard, Acsadi, Agnes, Baciewicz, Frank, Masse, Stacey, Massey, Janice, Juel, Vern, Onaitis, Mark, Lowe, James, Lipscomb, Bernadette, Mozaffar, Tahseen, Thai, Gaby, Milliken, Jeffrey, Martin, Veronica, Karayan, Ronnie, Muley, Suraj, Parry, Gareth, Shumway, Sara, Oh, Shin, Claussen, Gwen, Lu, Liang, Cerfolio, Robert, Young, Angela, Morgan, Marla, Pascuzzi, Robert, Kincaid, John, Kesler, Kenneth, Guingrich, Sandy, Michaels, Angi, Phillips, Lawrence, Burns, Ted, Jones, David, Fischer, Cindy, Pulley, Michael, Berger, Alan, D'Agostino, Harry, Smith, Lisa, Rivner, Michael, Pruitt, Jerry, Landolfo, Kevin, Hillman, Demetric, Shaibani, Aziz, Sermas, Angelo, Ruel, Ross, Ismail, Farah, Sivak, Mark, Goldstein, Martin, Camunas, Jorge, Bratton, Joan, Tandan, Rup, Panitch, Hill, Leavitt, Bruce, Jones, Marilee, Muppidi, Srikanth, Vernino, Steven, Nations, Sharon, Meyer, Dan, Gorham, Nina, Wolfe, Gil I *, Kaminski, Henry J, Aban, Inmaculada B, Cea, J Gabriel, Heckmann, Jeannine M, King, John O, Beydoun, Said R, Chalk, Colin H, Barboi, Alexandru C, Amato, Anthony A, Shaibani, Aziz I, Lecky, Bryan R F, Pulley, Michael T, Rivner, Michael H, Kostera-Pruszczyk, Anna, Pascuzzi, Robert M, Jackson, Carlayne E, Verschuuren, Jan J G M, Massey, Janice M, Kissel, John T, Werneck, Lineu C, Barohn, Richard J, Silvestri, Nicholas J, Conwit, Robin, Sonett, Joshua R, Jaretzki, Alfred, III *, Cutter, Gary R
Publikováno v:
In The Lancet Neurology March 2019 18(3):259-268
Autor:
Lukacs Zoltan, Paulina Nieves Cobos, Stephan Wenninger, Tracey A. Willis, Michela Guglieri, Marc Roberts, Rosaline Quinlivan, David Hilton-Jones, Teresinha Evangelista, Stephan Zierz, Beate Schlotter-Weigel, Maggie C Walter, Peter Reilich, Thomas Klopstock, Marcus Deschauer, Volker Straub, Wolfgang Müller-Felber, Benedikt Schoser
Publikováno v:
Нервно-мышечные болезни, Vol 6, Iss 3, Pp 24-27 (2019)
Externí odkaz:
https://doaj.org/article/4ec0d1645281460598905760d4b17f8a
Autor:
Hilton-Jones, David
Publikováno v:
In Medicine September 2016 44(9):570-575
Autor:
Scalco, Renata Siciliani *, Gardiner, Alice R., Pitceathly, Robert D.S., Hilton-Jones, David, Schapira, Anthony H., Turner, Chris, Parton, Matt, Desikan, Mahalekshmi, Barresi, Rita, Marsh, Julie, Manzur, Adnan Y., Childs, Anne-Marie, Feng, Lucy, Murphy, Elaine, Lamont, Phillipa J., Ravenscroft, Gianina, Wallefeld, William, Davis, Mark R., Laing, Nigel G., Holton, Janice L., Fialho, Doreen, Bushby, Kate, Hanna, Michael G., Phadke, Rahul, Jungbluth, Heinz, Houlden, Henry, Quinlivan, Ros
Publikováno v:
In Neuromuscular Disorders August 2016 26(8):504-510
Autor:
De Bleecker, Jan L. *, De Paepe, Boel, Aronica, Eleonora, de Visser, Marianne, Amato, Anthony, Benveniste, Olivier, De Bleecker, Jan, de Boer, Onno, Dimachkie, Mazen, Gherardi, Romain, Goebel, Hans Hilmar, Hilton-Jones, David, Holton, Janice, Lundberg, Ingrid E., Mammen, Andrew, Mastaglia, Frank, Nishino, Ichizo, Rushing, Elisabeth, Daa Schroder, Henrik, Selcen, Duygu, Stenzel, Werner
Publikováno v:
In Neuromuscular Disorders March 2015 25(3):268-272
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
Autor:
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, Halil Ibrahim Aydin, Serdar Ceylaner, Sarah Drewes, Jerry Vockley, Rhonda L Taylor, Chiara Folland, Aasta Kelly, Hayley Goullee, Emil Ylikallio, Mari Auranen, Henna Tyynismaa, Bjarne Udd, Alistair R R Forrest, Mark R Davis, Drago Bratkovic, Nicholas Manton, Thomas Robertson, Cullen O’Gorman, Pamela McCombe, Nigel G Laing, Liza Phillips, Pascale de Lonlay, Gianina Ravenscroft
Rhabdomyolysis is the acute breakdown of skeletal myofibres in response to an initiating factor, most commonly toxins and over exertion. A variety of genetic disorders predispose to rhabdomyolysis through different pathogenic mechanisms, particularly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4bd1d51311f5e2b61ad26c923c76fc7
http://hdl.handle.net/10138/353498
http://hdl.handle.net/10138/353498