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Comment
. 2018 Jan 1;141(1):e2.
doi: 10.1093/brain/awx291.

Reply: POLR3A variants in hereditary spastic paraplegia and ataxia

Martina Minnerop  1   2 , Delia Kurzwelly  2   3 , Tim W Rattay  4   5 , Dagmar Timmann  6 , Holger Hengel  4   5 , Matthis Synofzik  4   5 , Claudia Stendel  7   8 , Rita Horvath  9 , Rebecca Schüle  4   5 , Alfredo Ramirez  10   11   12   13
Affiliations
Comment

Reply: POLR3A variants in hereditary spastic paraplegia and ataxia

Martina Minnerop et al. Brain. .
No abstract available

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Comment on

  • Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
    Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R. Minnerop M, et al. Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095. Brain. 2017. PMID: 28459997 Free PMC article.
  • POLR3A variants in hereditary spastic paraplegia and ataxia.
    Gauquelin L, Tétreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupré N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard G. Gauquelin L, et al. Brain. 2018 Jan 1;141(1):e1. doi: 10.1093/brain/awx290. Brain. 2018. PMID: 29228109 Free PMC article. No abstract available.

References

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Supplementary concepts