All Stories

  1. De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

    Article • The American Journal of Human Genetics, April 2016, Elsevier

    Dr David S Lynch

  2. Triple trouble: a striking new phenotype or competing genes in a family with hereditary spastic paraplegia

    Article • Deutsche Zeitschrift für Nervenheilkunde, March 2016, Springer Science + Business Media

    Dr David S Lynch

  3. Use of focused exome sequencing in adult-onset leukodystrophy to identify new genes and mutations

    Article • The Lancet, February 2016, Elsevier

    Dr David S Lynch

  4. HSP in Greece: frequency of genes and clinical phenotypes

    Article • European Journal of Human Genetics, September 2015, Nature

    Dr David S Lynch

  5. A novel ABCD1 mutation detected by next generation sequencing in presumed hereditary spastic paraplegia: A 30-year diagnostic delay caused by misleading biochemical findings

    Article • Journal of the Neurological Sciences, August 2015, Elsevier

    Dr David S Lynch

  6. Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation

    Article • Deutsche Zeitschrift für Nervenheilkunde, June 2015, Springer Science + Business Media

    Dr David S Lynch

  7. Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series

    Article • Journal of Neurology Neurosurgery & Psychiatry, May 2015, BMJ

    Dr David S Lynch