Browsing by Author "Chinnery, Patrick F."

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  • McMacken, Grace M.; Lochmüller, Hanns; Bansagi, Boglarka; Pyle, Angela; Lochmüller, Angela; Chinnery, Patrick F.; Laurie, Steven, 1973-; Beltran, Sergi; Matalonga, Leslie; Horvath, Rita (Springer, 2020)
    Background: Behr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spastic paraparesis, and motor neuropathy often associated with ataxia. The molecular ...
  • 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 ...
  • 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 ...