2. Academic Validation
  3. Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology

Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology

  • Neurology. 2014 Nov 11;83(20):1873-5. doi: 10.1212/WNL.0000000000000981.
Joshua Hersheson 1,  Derek Burke 1,  Robert Clayton 1,  Glenn Anderson 1,  Thomas S Jacques 1,  Philippa Mills 1,  Nicholas W Wood 1,  Paul Gissen 1,  Peter Clayton 1,  Julian Fearnley 1,  Sara E Mole 1,  Henry Houlden 2
Affiliations

Affiliations

  • 1 From UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery (J.H., N.W.W., H.H.); Great Ormond Street Hospital for Children NHS Foundation Trust (D.B., G.A., T.S.J.); UCL Institute of Child Health (R.C., T.S.J., P.M., P.G.); Barts NHS Trust (J.F.), Royal London Hospital; and UCL (P.G., S.E.M.), London, UK.
  • 2 From UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery (J.H., N.W.W., H.H.); Great Ormond Street Hospital for Children NHS Foundation Trust (D.B., G.A., T.S.J.); UCL Institute of Child Health (R.C., T.S.J., P.M., P.G.); Barts NHS Trust (J.F.), Royal London Hospital; and UCL (P.G., S.E.M.), London, UK. h.houlden@ucl.ac.uk.
PMID: 25298308 DOI: 10.1212/WNL.0000000000000981
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