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Dokumenttyp:
journal article 
Autor(en):
Hafezparast, M; Klocke, R; Ruhrberg, C; Marquardt, A; Ahmad-Annuar, A; Bowen, S; Lalli, G; Witherden, AS; Hummerich, H; Nicholson, S; Morgan, PJ; Oozageer, R; Priestley, JV; Averill, S; King, VR; Ball, S; Peters, J; Toda, T; Yamamoto, A; Hiraoka, Y; Augustin, M; Korthaus, D; Wattler, S; Wabnitz, P; Dickneite, C; Lampel, S; Boehme, F; Peraus, G; Popp, A; Rudelius, M; Schlegel, J; Fuchs, H; Hrabe de Angelis, M; Schiavo, G; Shima, DT; Russ, AP; Stumm, G; Martin, JE; Fisher, EM 
Titel:
Mutations in dynein link motor neuron degeneration to defects in retrograde transport. 
Abstract:
Degenerative disorders of motor neurons include a range of progressive fatal diseases such as amyotrophic lateral sclerosis (ALS), spinal-bulbar muscular atrophy (SBMA), and spinal muscular atrophy (SMA). Although the causative genetic alterations are known for some cases, the molecular basis of many SMA and SBMA-like syndromes and most ALS cases is unknown. Here we show that missense point mutations in the cytoplasmic dynein heavy chain result in progressive motor neuron degeneration in heteroz...    »
 
Zeitschriftentitel:
Science 
Jahr:
2003 
Band / Volume:
300 
Heft / Issue:
5620 
Seitenangaben Beitrag:
808-12 
Sprache:
eng 
Print-ISSN:
0036-8075 
TUM Einrichtung:
r Allgemeine Pathologie und pathologische Anatomie