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Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...Brain (London, England : 1878), 2010-07, Vol.133 (7), p.2148-2159
- Mills, Philippa B.
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- Mills, Kevin A.
- Tuschl, Karin
- Aylett, Sarah
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- Baxter, Peter
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- Pike, Mike G.
- Hughes, M. Imelda
- Struys, Eduard A.
- Jakobs, Cornelis
- Zuberi, Sameer M.
- Clayton, Peter T.
2010
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PloS one, 2016-04, Vol.11 (4), p.e0152840
2016
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Muscle & nerve, 2018-04, Vol.57 (4), p.550-560
2018
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Annals of neurology, 2020-08, Vol.88 (2), p.332-347
- Foley, A. Reghan
- Zou, Yaqun
- Dunford, James E.
- Rooney, Jachinta
- Chandra, Goutam
- Xiong, Hui
- Straub, Volker
- Voit, Thomas
- Romero, Norma
- Donkervoort, Sandra
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- Markello, Thomas
- Horn, Adam
- Qebibo, Leila
- Dastgir, Jahannaz
- Meilleur, Katherine G.
- Finkel, Richard S.
- Fan, Yanbin
- Mamchaoui, Kamel
- Duguez, Stephanie
- Nelson, Isabelle
- Laporte, Jocelyn
- Santi, Mariarita
- Malfatti, Edoardo
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- Touraine, Philippe
- Hirano, Michio
- Hughes, Imelda
- Bushby, Kate
- Oppermann, Udo
- Böhm, Johann
- Jaiswal, Jyoti K.
- Stojkovic, Tanya
- Bönnemann, Carsten G.
2020
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Neuromuscular disorders : NMD, 2021-01, Vol.31 (1), p.21-28
2021
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Neuromuscular disorders : NMD, 2020-03, Vol.30 (3), p.254-264
2020
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Developmental medicine and child neurology, 2013-02, Vol.55 (2), p.154-161
2013
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Molecular genetics and metabolism, 2010-06, Vol.100 (2), p.207-212
2010
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X-Linked Myotubular Myopathy and Duchenne Muscular Dystrophy in a Preterm Infant: A Rare Combination
2020
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Thorax, 2012-07, Vol.67 (Suppl 1), p.i1-i40
2012
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The Lancet (British edition), 2017-09, Vol.390 (10101), p.1489-1498
- McDonald, Craig M
- Campbell, Craig
- Torricelli, Ricardo Erazo
- Finkel, Richard S
- Flanigan, Kevin M
- Goemans, Nathalie
- Heydemann, Peter
- Kaminska, Anna
- Kirschner, Janbernd
- Muntoni, Francesco
- Osorio, Andrés Nascimento
- Schara, Ulrike
- Sejersen, Thomas
- Shieh, Perry B
- Sweeney, H Lee
- Topaloglu, Haluk
- Tulinius, Már
- Vilchez, Juan J
- Voit, Thomas
- Wong, Brenda
- Elfring, Gary
- Kroger, Hans
- Luo, Xiaohui
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- Riebling, Peter
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- Spiegel, Robert J
- Peltz, Stuart W
- Mercuri, Eugenio
- Alfano, Lindsay N
- Eagle, Michelle
- James, Meredith K
- Lowes, Linda
- Mayhew, Anna
- Mazzone, Elena S
- Nelson, Leslie
- Rose, Kristy J
- Abdel-Hamid, Hoda Z
- Apkon, Susan D
- Barohn, Richard J
- Bertini, Enrico
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- Jongno-gu, Daehak-ro
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- Darras, Basil T
- Dastgir, Jahannaz
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- Escobar, Raul G
- Finanger, Erika
- Guglieri, Michela
- Hughes, Imelda
- Iannaccone, Susan T
- Jones, Kristi J
- Karachunski, Peter
- Kudr, Martin
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- Mah, Jean K
- Mathews, Katherine
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- Péréon, Yann
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- Renfroe, J Ben
- de Resende, Maria Bernadete Dutra
- Ryan, Monique
- Selby, Kathryn
- Tennekoon, Gihan
- Vita, Giuseppe
2017
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Neurology, 2018-10, Vol.91 (14), p.e1312
- Aragon-Gawinska, Karolina
- Seferian, Andreea M
- Daron, Aurore
- Gargaun, Elena
- Vuillerot, Carole
- Cances, Claude
- Ropars, Juliette
- Chouchane, Mondher
- Cuppen, Inge
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- Marini-Bettolo, Chiara
- Rambaud, Jerome
- Taytard, Jessica
- Annoussamy, Melanie
- Scoto, Mariacristina
- Gidaro, Teresa
- Servais, Laurent
2018
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The Lancet (British edition), 2021-04, Vol.397 (10282), p.1375-1386
- Burnside, Girvan
- Appleton, Richard
- Smith, Dave
- Leach, John Paul
- Sills, Graeme
- Tudur-Smith, Catrin
- Plumpton, Catrin
- Hughes, Dyfrig A
- Williamson, Paula
- Taylor, Claire
- Hindley, Dan
- Maguire, Melissa
- Smith, Philip E
- Lanyon, Karen
- Manford, Mark
- Parker, Alasdair
- Swiderska, Nina
- Pauling, James
- Hughes, Adrian
- Gupta, Rajat
- Hanif, Sadia
- Awadh, Mostafa
- Ragunathan, Sharmini
- Cable, Nicola
- Cooper, Paul
- Hindley, Daniel
- Rakshi, Karl
- Molloy, Sophie
- Ayonrinde, Kunle
- Wilson, Martin
- Saladi, Satyanarayana
- Funston, Lesley-Ann
- Cassidy, Damhait
- Ratnayaka, Mal
- Faza, Hani
- Sadler, Martin
- Al-Moasseb, Hassan
- Galtrey, Clare
- Wren, Damien
- Olabi, Anas
- Khan, Muhammed
- Kallappa, Chetana
- Chinthapalli, Ravi
- Hitiris, Nikolas
- Hussain, Nahin
- Dowson, Simon
- Ellison, Julie
- Sharrack, Basil
- Gandhi, Vandna
- Tittensor, Phil
- Summers, Beatrice
- Shashikiran, Sastry
- Dison, Penelope J
- Samarasekera, Shanika
- McCorry, Doug
- White, Kathleen
- Nithi, Kannan
- Richardson, Martin
- Brown, Richard
- Deekollu, David
- Slaght, Sean
- Ahmed, Mansoor
- Chaudhuri, Abhijit
- Chow, Gabriel
- Artal, Javier
- Kucinskiene, Danute
- Sreenivasa, Harish
- Velmurugan, Singara
- Zipitis, Christos S
- McLean, Brendan
- Gregoriou, Angelous
- Maddison, Paul
- Lawthom, Charlotte
- Kinton, Lucy
- Kelso, Andrew
- Hughes, Imelda
- Martland, John
- Emsley, Hedley
- de Goede, Christian
- Moor, Carl-Christian
- Aram, Julia
- Mohanraj, Rajiv
- Nelapatla, Suresh
- Rittey, Chris
- Cock, Hannah
- Richardson, Anna
- Houston, Erika
- Lawson, Geoff
- Burness, Christine
- Wieshmann, Udo
- Dey, Indranil
- Sivakumar, Puthuval
- Yeung, Lap-Kong
- Smith, Philip
- Heafield, Tom
- Mathew, Anna
- Smith, David
- Jauhari, Praveen
2021
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The Lancet (British edition), 2021-04, Vol.397 (10282), p.1363-1374
- Burnside, Girvan
- Appleton, Richard
- Smith, Dave
- Leach, John Paul
- Sills, Graeme
- Tudur-Smith, Catrin
- Plumpton, Catrin
- Hughes, Dyfrig A
- Williamson, Paula
- Taylor, Claire
- Hindley, Dan
- Maguire, Melissa
- Smith, Philip E
- Lanyon, Karen
- Manford, Mark
- Parker, Alasdair
- Swiderska, Nina
- Pauling, James
- Hughes, Adrian
- Gupta, Rajat
- Hanif, Sadia
- Awadh, Mostafa
- Ragunathan, Sharmini
- Cable, Nicola
- Cooper, Paul
- Hindley, Daniel
- Rakshi, Karl
- Molloy, Sophie
- Ayonrinde, Kunle
- Wilson, Martin
- Saladi, Satyanarayana
- Funston, Lesley-Ann
- Cassidy, Damhait
- Ratnayaka, Mal
- Faza, Hani
- Sadler, Martin
- Al-Moasseb, Hassan
- Galtrey, Clare
- Wren, Damien
- Olabi, Anas
- Khan, Muhammed
- Kallappa, Chetana
- Chinthapalli, Ravi
- Hitiris, Nikolas
- Hussain, Nahin
- Dowson, Simon
- Ellison, Julie
- Sharrack, Basil
- Gandhi, Vandna
- Tittensor, Phil
- Summers, Beatrice
- Shashikiran, Sastry
- Dison, Penelope J
- Samarasekera, Shanika
- McCorry, Doug
- White, Kathleen
- Nithi, Kannan
- Richardson, Martin
- Brown, Richard
- Deekollu, David
- Slaght, Sean
- Ahmed, Mansoor
- Chaudhuri, Abhijit
- Chow, Gabriel
- Artal, Javier
- Kucinskiene, Danute
- Sreenivasa, Harish
- Velmurugan, Singara
- Zipitis, Christos S
- McLean, Brendan
- Gregoriou, Angelous
- Maddison, Paul
- Lawthom, Charlotte
- Kinton, Lucy
- Kelso, Andrew
- Hughes, Imelda
- Martland, John
- Emsley, Hedley
- de Goede, Christian
- Moor, Carl-Christian
- Aram, Julia
- Mohanraj, Rajiv
- Nelapatla, Suresh
- Rittey, Chris
- Cock, Hannah
- Richardson, Anna
- Houston, Erika
- Lawson, Geoff
- Burness, Christine
- Wieshmann, Udo
- Dey, Indranil
- Sivakumar, Puthuval
- Yeung, Lap-Kong
- Smith, Philip
- Heafield, Tom
- Mathew, Anna
- Smith, David
- Jauhari, Praveen
2021
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Developmental medicine and child neurology, 2020-03, Vol.62 (3), p.310-314
- Aragon‐Gawinska, Karolina
- Daron, Aurore
- Ulinici, Ana
- Vanden Brande, Laura
- Seferian, Andreea
- Gidaro, Teresa
- Scoto, Mariacristina
- Deconinck, Nicolas
- Servais, Laurent
- Benezit, Audrey
- Mathieu, Marie‐Laure
- Cances, Claude
- Durigneux, Julien
- Ropars, Juliette
- Chouchane, Mondher
- Forey, Peggy
- Lazaro, Leila
- Hughes, Imelda
- Illingworth, Marjorie
- Marini‐Bettolo, Chiara
- Cuppen, Inge
- Modrzejewska, Sandra
- Balintova, Zdenka
- Haberlova, Jana
- Drimtzia, Kate
- Blaschek, Astrid
- Ambegankoar, Gautam
- Annoussamy, Melanie
2020
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European journal of surgical oncology, 2017-05, Vol.43 (5), p.S35-S35
2017
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European journal of surgical oncology, 2019-05, Vol.45 (5), p.883-883
2019
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JAMA : the journal of the American Medical Association, 2022-04, Vol.327 (15), p.1456
- Guglieri, Michela
- Bushby, Kate
- McDermott, Michael P
- Hart, Kimberly A
- Tawil, Rabi
- Martens, William B
- Herr, Barbara E
- McColl, Elaine
- Speed, Chris
- Wilkinson, Jennifer
- Kirschner, Janbernd
- King, Wendy M
- Eagle, Michelle
- Brown, Mary W
- Willis, Tracey
- Griggs, Robert C
- Straub, Volker
- van Ruiten, Henriette
- Childs, Anne-Marie
- Ciafaloni, Emma
- Shieh, Perry B
- Spinty, Stefan
- Maggi, Lorenzo
- Baranello, Giovanni
- Butterfield, Russell J
- Horrocks, I A
- Roper, Helen
- Alhaswani, Zoya
- Flanigan, Kevin M
- Kuntz, Nancy L
- Manzur, Adnan
- Darras, Basil T
- Kang, Peter B
- Morrison, Leslie
- Krzesniak-Swinarska, Monika
- Mah, Jean K
- Mongini, Tiziana E
- Ricci, Federica
- von der Hagen, Maja
- Finkel, Richard S
- O'Reardon, Kathleen
- Wicklund, Matthew
- Kumar, Ashutosh
- McDonald, Craig M
- Han, Jay J
- Joyce, Nanette
- Henricson, Erik K
- Schara-Schmidt, Ulrike
- Gangfuss, Andrea
- Wilichowski, Ekkehard
- Barohn, Richard J
- Statland, Jeffrey M
- Campbell, Craig
- Vita, Giuseppe
- Vita, Gian Luca
- Howard, Jr, James F
- Hughes, Imelda
- McMillan, Hugh J
- Pegoraro, Elena
- Bello, Luca
- Burnette, W Bryan
- Thangarajh, Mathula
- Chang, Taeun
2022
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Journal of neurology, neurosurgery and psychiatry, 2022-09, Vol.93 (9), p.e2.1
2022
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Archives of disease in childhood. Education and practice edition, 2024-04, p.edpract-2023-326479
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Neurology, 2022-10, Vol.99 (14), p.e1511
- Vezyroglou, Aikaterini
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- Barwick, Katy
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- Brownstein, Catherine A
- Holder-Espinasse, Muriel
- Fry, Andrew E
- Németh, Andrea H
- Tofaris, George K
- Hay, Eleanor
- Hughes, Imelda
- Mansour, Sahar
- Mordekar, Santosh R
- Splitt, Miranda
- Turnpenny, Peter D
- Demetriou, Demetria
- Koopmann, Tamara T
- Ruivenkamp, Claudia A L
- Agrawal, Pankaj B
- Carr, Lucinda
- Clowes, Virginia
- Ghali, Neeti
- Holder, Susan Elizabeth
- Radley, Jessica
- Male, Alison
- Sisodiya, Sanjay M
- Kurian, Manju A
- Cross, J Helen
- Balasubramanian, Meena
2022
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Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia
- Nasca, Alessia
- Scotton, Chiara
- Zaharieva, Irina
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- Selvatici, Rita
- Magnusson, Olafur Thor
- Gal, Aniko
- Weaver, David
- Rossi, Rachele
- Armaroli, Annarita
- Pane, Marika
- Phadke, Rahul
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- Muntoni, Francesco
- Hughes, Imelda
- Cecconi, Antonella
- Hajnóczky, György
- Donati, Alice
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- Zeviani, Massimo
- Ferlini, Alessandra
- Ghezzi, Daniele
2017
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Brain (London, England : 1878), 2014-01, Vol.137 (Pt 1), p.44-56
- FOLEY, A. Reghan
- MENEZES, Manoj P
- HUGHES, Imelda
- MCCULLAGH, B. Gary
- JUNGBLUTH, Heinz
- LIM, Ming J
- LIN, Jean-Pierre
- MEGARBANE, Andre
- ANDONI URTIZBEREA, J
- SHAH, Ayaz H
- ANTONY, Jayne
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- NG, Joanne
- MATHEW, Ann A
- O'BYRNE, James J
- FORMAN, Eva
- SCOTO, Mariacristina
- PRASAD, Manish
- O'BRIEN, Katherine
- OLPIN, Simon
- OPPENHEIM, Marcus
- GONZALEZ, Michael A
- HARGREAVES, Iain
- LAND, John M
- WANG, Min X
- CARPENTER, Kevin
- HORVATH, Rita
- STRAUB, Volker
- LEK, Monkol
- GOLD, Wendy
- FARRELL, Michael O
- BRANDNER, Sebastian
- AL-ODAIB, Ahmad
- PHADKE, Rahul
- MATSUBARA, Kazuo
- McCGARVEY, Michael L
- SCHERER, Steven S
- BAXTER, Peter S
- KING, Mary D
- CLAYTON, Peter
- RAHMAN, Shamima
- REILLY, Mary M
- OUVRIER, Robert A
- ABRAMS, Alexander J
- CHRISTODOULOU, John
- ZÜCHNER, Stephan
- MUNTONI, Francesco
- HOULDEN, Henry
- SUGANO, Kumiko
- YONEZAWA, Atsushi
- MANZUR, Adnan Y
- BURNS, Joshua
2014
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Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis
2020
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Annals of neurology, 2019-08, Vol.86 (2), p.310-315
- 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
- Nesbitt, Victoria
- Fratter, Carl
- Poulton, Joanna
- Hanna, Michael G.
- Pitceathly, Robert D. S.
- Taylor, Robert W.
- Turnbull, Doug M.
- McFarland, Robert
2019
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