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Veronique V. Belzil et al.
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Francesco Lotti et al.
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Miranda L. Tradewell et al.
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Shingo Kariya et al.
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Shinsuke Ishigaki et al.
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Boris Rogelj et al.
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Sandrine Da Cruz et al.
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RNA targets of wild-type and mutant FET family proteins
Jessica I. Hoell et al.
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ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import
Dorothee Dormann et al.
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TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration
Clotilde Lagier-Tourenne et al.
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TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia
Ian R. A. Mackenzie et al.
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U1 snRNP protects pre-mRNAs from premature cleavage and polyadenylation
Daisuke Kaida et al.
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Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations
D. Baeumer et al.
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ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS
Shuo-Chien Ling et al.
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Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice
Xiu Shan et al.
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The importance of the SMN genes in the genetics of sporadic ALS
Philippe Corcia et al.
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The role of RNP biogenesis in spinal muscular atrophy
Ashwin Chari et al.
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T. J. Kwiatkowski et al.
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Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
Ben Langmead et al.
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SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing
Zhenxi Zhang et al.
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TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
Edor Kabashi et al.
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TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
Jemeen Sreedharan et al.
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Ulrich Rothbauer et al.
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Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPs
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Tetsuaki Arai et al.
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KB Shpargel et al.
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C Winkler et al.
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The survival of motor neurons protein determines the capacity for snRNP assembly: Biochemical deficiency in spinal muscular atrophy
LL Wan et al.
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SMN-mediated assembly of RNPs: a complex story
G Meister et al.
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S Pagliardini et al.
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