المؤلفون: Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Vegezzi, Elisa, Sullivan, Roisin, Galassi Deforie, Valentina, Fernández-Eulate, Gorka, Traschütz, Andreas, Rossi, Salvatore, Garibaldi, Matteo, Kwarciany, Mariusz, Taroni, Franco, Brusco, Alfredo, Good, Jean-Marc, Cavalcanti, Francesca, Hammans, Simon, Ravenscroft, Gianina, Roxburgh, Richard H, Albájar, Inés, Ashton, Catherine, Beauchamp, Nick, Beecroft, Sarah J, Bellone, Emilia, Berciano, Josè, Bogdanova-Mihaylova, Petya, Borroni, Barbara, Brais, Bernard, Bugiardini, Enrico, Campos, Catarina, Carr, Aisling, Carroll, Liam, Castellani, Francesca, Cavallaro, Tiziana, Chinnery, Patrick F, Colnaghi, Silvia, Cosentino, Giuseppe, Damasio, Joana, Das, Soma, Devigili, Grazia, Di Bella, Daniela, Dick, David, Durr, Alexandra, El-Saddig, Amar, Faber, Jennifer, Ferrarini, Moreno, Filosto, Massimiliano, Fuller, Geraint, Gallone, Salvatore, Gemelli, Chiara, Grandis, Marina, Hardy, John, Hewamadduma, Channa, Horvath, Rita, Huin, Vincent, Imperiale, Daniele, Iruzubieta, Pablo, Kaski, Diego, King, Andrew, Klockgether, Thomas, Koç, Müge, Kumar, Kishore R, Kuntzer, Thierry, Laing, Nigel, Laurà, Matilde, Lavin, Timothy, Leigh, Peter Nigel, Leonardis, Lea, Lunn, Michael P, Magri, Stefania, Magrinelli, Francesca, Malaquias, Maria João, Mancuso, Michelangelo, Manji, Hadi, Massucco, Sara, McConville, John, Munhoz, Renato P, Nagy, Sara, Ndayisaba, Alain, Nemeth, Andrea Hilary, Novis, Luiz Eduardo, Palmio, Johanna, Pegoraro, Elena, Pellerin, David, Perrone, Benedetta, Pisciotta, Chiara, Polke, James, Proudfoot, Malcolm, Orsi, Laura, Radunovic, Aleksandar, Riva, Nilo, Robert, Aiko, Ronco, Riccardo, Rossini, Elena, Rossor, Alex M, Şahbaz, Irmak, Sa’di, Qais, Salsano, Ettore, Salvalaggio, Alessandro, Santoro, Lucio, Sarto, Elisa, Schaefer, Andrew, Schenone, Angelo, Scriba, Carolin, Shaw, Joseph, Silvestri, Gabriella, Stevens, James, Strupp, Michael, Sumner, Charlotte J, Szymura, Agnieszka, Tagliapietra, Matteo, Tassorelli, Cristina, Tessa, Alessandra, Theaudin, Marie, Tomaselli, Pedro, Tozza, Stefano, Tucci, Arianna, Valente, Enza Maria, Versino, Maurizio, Walsh, Richard A, Wood, Nick W, Yau, Way Yan, Zuchner, Stephan, Parolin Schnekenberg, Ricardo, Rugginini, Bianca, Abati, Elena, Manini, Arianna, Quartesan, Ilaria, Ghia, Arianna, Lòpez de Munaìn, Adolfo, Manganelli, Fiore, Kennerson, Marina, Santorelli, Filippo Maria, Infante, Jon, Marques, Wilson, Jokela, Manu, Murphy, Sinéad M, Mandich, Paola, Fabrizi, Gian Maria, Briani, Chiara, Gosal, David, Pareyson, Davide, Ferrari, Alberto, Prados, Ferran, Yousry, Tarek, Khurana, Vikram, Kuo, Sheng-Han, Miller, James, Troakes, Claire, Jaunmuktane, Zane, Giunti, Paola, Hartmann, Annette, Basak, Nazli, Synofzik, Matthis, Stojkovic, Tanya, Hadjivassiliou, Marios, Reilly, Mary M, Houlden, Henry, Cortese, Andrea, null, null

المساهمون: Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Vegezzi, Elisa, Sullivan, Roisin, Galassi Deforie, Valentina, Fernández-Eulate, Gorka, Traschütz, Andrea, Rossi, Salvatore, Garibaldi, Matteo, Kwarciany, Mariusz, Taroni, Franco, Brusco, Alfredo, Good, Jean-Marc, Cavalcanti, Francesca, Hammans, Simon, Ravenscroft, Gianina, Roxburgh, Richard H, Albájar, Iné, Ashton, Catherine, Beauchamp, Nick, Beecroft, Sarah J, Bellone, Emilia, Berciano, Josè, Bogdanova-Mihaylova, Petya, Borroni, Barbara, Brais, Bernard, Bugiardini, Enrico, Campos, Catarina, Carr, Aisling, Carroll, Liam, Castellani, Francesca, Cavallaro, Tiziana, Chinnery, Patrick F, Colnaghi, Silvia, Cosentino, Giuseppe, Damasio, Joana, Das, Soma, Devigili, Grazia, Di Bella, Daniela, Dick, David, Durr, Alexandra, El-Saddig, Amar, Faber, Jennifer, Ferrarini, Moreno, Filosto, Massimiliano, Fuller, Geraint, Gallone, Salvatore, Gemelli, Chiara, Grandis, Marina, Hardy, John, Hewamadduma, Channa, Horvath, Rita, Huin, Vincent, Imperiale, Daniele, Iruzubieta, Pablo, Kaski, Diego, King, Andrew, Klockgether, Thoma, Koç, Müge, Kumar, Kishore R, Kuntzer, Thierry, Laing, Nigel, Laurà, Matilde, Lavin, Timothy, Leigh, Peter Nigel, Leonardis, Lea, Lunn, Michael P, Magri, Stefania, Magrinelli, Francesca, Malaquias, Maria João, Mancuso, Michelangelo, Manji, Hadi, Massucco, Sara, Mcconville, John, Munhoz, Renato P, Nagy, Sara, Ndayisaba, Alain, Nemeth, Andrea Hilary, Novis, Luiz Eduardo, Palmio, Johanna, Pegoraro, Elena, Pellerin, David, Perrone, Benedetta, Pisciotta, Chiara, Polke, Jame, Proudfoot, Malcolm, Orsi, Laura, Radunovic, Aleksandar, Riva, Nilo, Robert, Aiko, Ronco, Riccardo, Rossini, Elena, Rossor, Alex M, Şahbaz, Irmak, Sa’Di, Qai, Salsano, Ettore, Salvalaggio, Alessandro, Santoro, Lucio, Sarto, Elisa

مصطلحات موضوعية: canva, rfc1, Southern blotting

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38193360; numberofpages:31; journal:BRAIN; https://hdl.handle.net/11573/1702715Test

الإتاحة: https://doi.org/10.1093/brain/awad436Test
https://hdl.handle.net/11573/1702715Test

المؤلفون: 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

المصدر: European Journal of Neurology (2023) (In press).

مصطلحات موضوعية: Cataracts neuropathy, Charcot-Marie-Tooth, CRYAB, myopathy

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10178232/1/Mutations%20in%20alpha%20B%20crystallin.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10178232Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10178232/1/Mutations%20in%20alpha%20B%20crystallin.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10178232Test/

المؤلفون: 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

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

مصطلحات موضوعية: CRYAB, Charcot-Marie-Tooth, cataracts neuropathy, myopathy

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37772343; info:eu-repo/semantics/altIdentifier/wos/WOS:001077867100001; volume:31; issue:1; journal:EUROPEAN JOURNAL OF NEUROLOGY; https://hdl.handle.net/11571/1487483Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85173522205

الإتاحة: https://doi.org/10.1111/ene.16063Test
https://hdl.handle.net/11571/1487483Test

المؤلفون: Kapoor, Mahima, Compton, Laura, Rossor, Alex, Hutton, Elsbeth, Manji, Hadi, Lunn, Mike, Reilly, Mary, Carr, Aisling

المساهمون: Medical Research Council Canada

المصدر: Journal of the Peripheral Nervous System ; volume 26, issue 4, page 461-468 ; ISSN 1085-9489 1529-8027

الإتاحة: https://doi.org/10.1111/jns.12470Test

المؤلفون: Brown, Rachel, Au, Lewis, Spain, Lavinia, Furness, Andrew, Rees, Jeremy, Rossor, Alex, Morris, Emma, Zandi, Michael, Lunn, Michael, Larkin, James, Turajlic, Samra, Carr, Aisling

مصطلحات موضوعية: Parallel session 6: Clinical Neurology 2

وصف الملف: text/html

العلاقة: http://jnnp.bmj.com/cgi/content/short/90/12/e52-cTest; http://dx.doi.org/10.1136/jnnp-2019-ABN-2.176Test

الإتاحة: https://doi.org/10.1136/jnnp-2019-ABN-2.176Test
http://jnnp.bmj.com/cgi/content/short/90/12/e52-cTest

المؤلفون: Kapoor, Mahima, Carr, Aisling S, Foiani, Martha S, Heslegrave, Amanda J, Zetterberg, Henrik, Malaspina, Andrea, Compton, Laura, Hutton, Elspeth, Rossor, Alex M, Reilly, Mary M, Lunn, Michael P

المصدر: Abstracts

الإتاحة: https://doi.org/10.1136/bmjno-2022-anzan.74Test

المؤلفون: Rocha, Nuno, Bulger, David A, Frontini, Andrea, Titheradge, Hannah, Gribsholt, Sigrid Bjerge, Knox, Rachel, Page, Matthew, Harris, Julie, Payne, Felicity, Adams, Claire, Sleigh, Alison, Crawford, John, Gjesing, Anette Prior, Bork-Jensen, Jette, Pedersen, Oluf, Barroso, Inês, Hansen, Torben, Cox, Helen, Reilly, Mary, Rossor, Alex, Brown, Rebecca J, Taylor, Simeon I, McHale, Duncan, Armstrong, Martin, Oral, Elif A, Saudek, Vladimir, O'Rahilly, Stephen, Maher, Eamonn R, Richelsen, Bjørn, Savage, David B, Semple, Robert K

المصدر: Rocha , N , Bulger , D A , Frontini , A , Titheradge , H , Gribsholt , S B , Knox , R , Page , M , Harris , J , Payne , F , Adams , C , Sleigh , A , Crawford , J , Gjesing , A P , Bork-Jensen , J , Pedersen , O , Barroso , I , Hansen , T , Cox , H , Reilly , M , Rossor , A , Brown , R J , Taylor , S I , McHale , D , Armstrong , ....

مصطلحات موضوعية: Journal Article

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.7554/eLife.23813Test
https://curis.ku.dk/portal/da/publications/human-biallelic-mfn2-mutations-induce-mitochondrial-dysfunction-upper-body-adipose-hyperplasia-and-suppression-of-leptin-expressionTest(396abb5c-95f3-4739-b0ee-1413038ceded).html
https://curis.ku.dk/ws/files/188221053/elife_23813_v3.pdfTest

المؤلفون: Zis, Panagiotis, Reilly, Mary M., Rao, Dasappaiah G., Tomaselli, Pedro, Rossor, Alex M., Hadjivassiliou, Marios

المساهمون: Medical Research Council

المصدر: Journal of the Peripheral Nervous System ; volume 22, issue 3, page 224-225 ; ISSN 1085-9489 1529-8027

الإتاحة: https://doi.org/10.1111/jns.12222Test

المؤلفون: Howard, Robin, Christofi, Gerry, Rossor, Alex, Warren, Jason, Werring, David

المصدر: Neurology ; page 17-35 ; ISBN 9781119715672

الإتاحة: https://doi.org/10.1002/9781119715672.ch2Test

المؤلفون: Lunn, Michael, Rossor, Alex, Reilly, Mary

المصدر: Neurology ; page 517-559 ; ISBN 9781119715672

الإتاحة: https://doi.org/10.1002/9781119715672.ch16Test