Browsing by Author "Griffin, Helen"

Sort by: Order: Results:

  • Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
    Töpf, Ana; Pyle, Angela; Griffin, Helen; Matalonga, Leslie; Schon, Katherine; Solve-RD SNV-indel working group; Solve-RD DITF-euroNMD; Sickmann, Albert; Schara-Schmidt, Ulrike; Hentschel, Andreas; Chinnery, Patrick F.; Kölbel, Heike; Roos, Andreas (Nature Research, 2021)
    TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in the TRIP4 gene have been ...
  • Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation
    Bansagi, Boglarka; Phan, Vietxuan; Baker, Mark R.; O'Sullivan, Julia; Jennings, Matthew J.; Whittaker, Roger G.; Müller, Juliane; Duff, Jennifer; Griffin, Helen; Miller, James A.L.; Gorman, Grainne S.; Lochmüller, Hanns; Chinnery, Patrick F.; Roos, Andreas; Swan, Laura E.; Horvath, Rita (Wolters Kluwer (LWW), 2018)
    Objective: To describe a patient with a multifocal demyelinating motor neuropathy with onset in childhood and a mutation in phosphatase and tensin homolog (PTEN), a tumor suppressor gene associated with inherited tumor ...
  • Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons
    Boczonadi, Veronika; Meyer, Kathrin; Gonczarowska-Jorge, Humberto; Griffin, Helen; Roos, Andreas; Bartsakoulia, Marina; Bansagi, Boglarka; Ricci, Giulia; Palinkas, Fanni; Zahedi, René P.; Bruni, Francesco; Kaspar, Brian; Lochmüller, Hanns; Boycott, Kym M.; Müller, Juliane; Horvath, Rita (Oxford University Press, 2018)
    The nuclear-encoded glycyl-tRNA synthetase gene (GARS) is essential for protein translation in both cytoplasm and mitochondria. In contrast, different genes encode the mitochondrial and cytosolic forms of most other tRNA ...

Search DSpace

Browse

My Account

In collaboration with Compliant to Partaking