Treat-NMD - An European network for neuromuscular diseases

被引：0
|
作者：
Baumeister, Sarah [1 ]
Scholz, Christine [2 ]
Straub, Volker
Mueller-Reible, Clemens
Sejersen, Thomas
Lochmueller, Hanns
Korinthenberg, Rudolph
Vorgerd, Matthias
Walter, Maggie
机构：
[1] Univ Munich, Neurol Klin & Poliklin, Friedrich Baur Inst, D-80336 Munich, Germany
[2] Deutsch Gesell Humangenet, Munich, Germany
来源：
MEDIZINISCHE GENETIK | 2009年 / 21卷 / 03期
关键词：
D O I：
10.1007/s11825-009-0190-7
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：375 / 380
页数：6
相关论文
共 50 条
  • [41] The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
    Bladen, Catherine L.
    Salgado, David
    Monges, Soledad
    Foncuberta, Maria E.
    Kekou, Kyriaki
    Kosma, Konstantina
    Dawkins, Hugh
    Lamont, Leanne
    Roy, Anna J.
    Chamova, Teodora
    Guergueltcheva, Velina
    Chan, Sophelia
    Korngut, Lawrence
    Campbell, Craig
    Dai, Yi
    Wang, Jen
    Barisic, Nina
    Brabec, Petr
    Lahdetie, Jaana
    Walter, Maggie C.
    Schreiber-Katz, Olivia
    Karcagi, Veronika
    Garami, Marta
    Viswanathan, Venkatarman
    Bayat, Farhad
    Buccella, Filippo
    Kimura, En
    Koeks, Zaida
    van den Bergen, Janneke C.
    Rodrigues, Miriam
    Roxburgh, Richard
    Lusakowska, Anna
    Kostera-Pruszczyk, Anna
    Zimowski, Janusz
    Santos, Rosario
    Neagu, Elena
    Artemieva, Svetlana
    Rasic, Vedrana Milic
    Vojinovic, Dina
    Posada, Manuel
    Bloetzer, Clemens
    Jeannet, Pierre-Yves
    Joncourt, Franziska
    Diaz-Manera, Jordi
    Gallardo, Eduard
    Karaduman, A. Ayse
    Topaloglu, Haluk
    El Sherif, Rasha
    Stringer, Angela
    Shatillo, Andriy V.
    [J]. HUMAN MUTATION, 2015, 36 (04) : 395 - 402
  • [42] The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development
    Heslop, Emma
    Csimma, Cristina
    Straub, Volker
    McCall, John
    Nagaraju, Kanneboyina
    Wagner, Kathryn R.
    Caizergues, Didier
    Korinthenberg, Rudolf
    Flanigan, Kevin M.
    Kaufmann, Petra
    McNeil, Elizabeth
    Mendell, Jerry
    Hesterlee, Sharon
    Wells, Dominic J.
    [J]. ORPHANET JOURNAL OF RARE DISEASES, 2015, 10
  • [43] Acoustic analysis of speech in patients with neuromuscular diseases (NMD): results of the study
    Malgina, E.
    Vashkevich, M.
    Likhachev, S.
    Rushkevich, Y.
    [J]. EUROPEAN JOURNAL OF NEUROLOGY, 2022, 29 : 479 - 479
  • [44] The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development
    Emma Heslop
    Cristina Csimma
    Volker Straub
    John McCall
    Kanneboyina Nagaraju
    Kathryn R Wagner
    Didier Caizergues
    Rudolf Korinthenberg
    Kevin M Flanigan
    Petra Kaufmann
    Elizabeth McNeil
    Jerry Mendell
    Sharon Hesterlee
    Dominic J Wells
    Kate Bushby
    [J]. Orphanet Journal of Rare Diseases, 10
  • [45] NMD4C: A new neuromuscular disease network for Canada
    Amburgey, K.
    Dowling, J.
    Chardon, J. Warman
    Kothary, R.
    Stead-Coyle, B.
    Brais, B.
    Campbell, C.
    Gagnon, C.
    McMillan, H.
    Selby, K.
    Korngut, L.
    Oskoui, M.
    Amin, R.
    Esler, P.
    Worsfold, N.
    Buffone, T.
    Wojtal, D.
    Osman, H.
    Lochmueller, H.
    [J]. NEUROMUSCULAR DISORDERS, 2020, 30 : S147 - S148
  • [46] High throughput diagnosis of neuromuscular diseases: the NMD-CHIP EU project
    Neri, M.
    Scotton, C.
    Vattemi, G.
    Merlini, L.
    Gualandi, F.
    Levy, N.
    Ferlini, A.
    [J]. NEUROMUSCULAR DISORDERS, 2011, 21 (9-10) : 746 - 746
  • [47] Uniting the Canadian NMD community: One year of the neuromuscular disease network for Canada (NMD4C)
    Beattie, E.
    Dowling, J.
    Chardon, J. Warman
    Kothary, R.
    Lintern, S.
    Amin, R.
    Buffone, T.
    Brais, B.
    Campbell, C.
    Gagnon, C.
    Gonorazky, H.
    Karamchandani, J.
    Korngut, L.
    McMillan, H.
    Oskoui, M.
    Osman, H.
    Selby, K.
    Wojtal, D.
    Worsfold, N.
    Lochmuller, H.
    [J]. NEUROMUSCULAR DISORDERS, 2021, 31 : S154 - S154
  • [48] TREAT-NMD stakeholder meeting for natural history studies in limb girdle muscular dystrophy 18th June 2019, Amsterdam, The Netherlands
    Guglieri, Michela
    Diaz-Manera, Jordi
    Straub, Volker
    [J]. NEUROMUSCULAR DISORDERS, 2021, 31 (09) : 899 - 906
  • [49] CLINICAL DATA ANALYSIS OF THE BULGARIAN PATIENT REGISTRY FOR MYOTONIC DYSTROPHY TYPE 1 AND TYPE 2-PART OF THE GLOBAL TREAT-NMD REGISTRY
    Kastreva, Kristina
    Tournev, Ivailo
    [J]. COMPTES RENDUS DE L ACADEMIE BULGARE DES SCIENCES, 2020, 73 (06): : 887 - 894
  • [50] HISTOCHEMISTRY IN NEUROMUSCULAR DISEASE (NMD) PATHOLOGY
    KING, EW
    CUNNINGH.GG
    [J]. ACTA MORPHOLOGICA ACADEMIAE SCIENTIARUM HUNGARICAE, 1973, : 75 - 75
12345