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Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Minnerop, Martina; Kurzwelly, Delia; Wagner, Holger; Soehn, Anne S.; Reichbauer, Jennifer; Tao, Feifei; Rattay, Tim W.; Peitz, Michael; Rehbach, Kristina; Giorgetti, Alejandro; Pyle, Angela; Thiele, Holger; Altmueller, Janine; Timmann, Dagmar; Karaca, Ilker; Lennarz, Martina; Baets, Jonathan; Hengel, Holger; Synofzik, Matthis; Atasu, Burcu; Atasu, Burcu


BibTeX

@article{minnerop_martina_2017_45131,
  author       = {Minnerop, Martina and
                  Kurzwelly, Delia and
                  Wagner, Holger and
                  Soehn, Anne S. and
                  Reichbauer, Jennifer and
                  Tao, Feifei and
                  Rattay, Tim W. and
                  Peitz, Michael and
                  Rehbach, Kristina and
                  Giorgetti, Alejandro and
                  Pyle, Angela and
                  Thiele, Holger and
                  Altmueller, Janine and
                  Timmann, Dagmar and
                  Karaca, Ilker and
                  Lennarz, Martina and
                  Baets, Jonathan and
                  Hengel, Holger and
                  Synofzik, Matthis and
                  Atasu, Burcu and
                  Atasu, Burcu},
  title        = {{Hypomorphic mutations in POLR3A are a frequent 
                   cause of sporadic and recessive spastic ataxia}},
  journal      = {BRAIN},
  year         = 2017,
  volume       = 140,
  pages        = {1561-1578},
  month        = jan,
}
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