Now showing items 1-4 of 4

  • Analysis of common and rare VPS13C variants in late-onset Parkinson disease 

    Rudakou, Uladzislau; Ruskey, Jennifer A.; Krohn, Lynne; Laurent, Sandra B.; Spiegelman, Dan; Greenbaum, Lior; Yahalom, Gilad; Desautels, Alex; Montplaisir, Jacques-Yves; Fahn, Stanley; Waters, Cheryl; Levy, Oren; Kehoe, Caitlin M.; Narayan, Sushma; Dauvilliers, Yves; Dupré, Nicolas; Hassin-Baer, Sharon; Alcalay, Roy N.; Rouleau, Guy; Fon, Edward A.; Gan-Or, Ziv (Lippincott, Williams and Wilkins, 2020-01-09)
    Objective We aimed to study the role of coding VPS13C variants in a large cohort of patients with lateonset Parkinson disease (PD) (LOPD). Methods VPS13C and its untranslated regions were sequenced using targeted next-generation sequencing in 1,567 ...
  • GBA mutations are associated with Rapid eye movement sleep behavior disorder 

    Gan-Or, Ziv; Mirelman, Anat; Postuma, Ronald B.; Arnulf, Isabelle; Bar-Shira, Anat; Dauvilliers, Yves; Desautels, Alex; Gagnon, Jean-François; Leblond, Claire S.; Frauscher, Birgit; Alcalay, Roy N.; Saunders-Pullman, Rachel; Bressman, Susan B.; Marder, Karen; Monaca, Christelle; Högl, Birgit; Orr-Urtreger, Avi; Dion, Patrick A.; Montplaisir, Jacques-Yves; Giladi, Nir; Rouleau, Guy (Wiley, 2015-07-31)
    Rapid eye movement sleep behavior disorder and GBA mutations are both associated with Parkinson’s disease. The GBA gene was sequenced in idiopathic rapid eye movement sleep behavior disorder patients (n = 265), and compared to controls (n = 2240). Rapid ...
  • Genetic markers of Restless Legs Syndrome in Parkinson disease 

    Gan-Or, Ziv; Alcalay, Roy N.; Bar-Shira, Anat; Leblond, Claire S.; Postuma, Ronald B.; Ben-Shachar, Shay; Waters, Cheryl; Johnson, Amelie; Levy, Oren; Mirelman, Anat; Gana-Weisz, Mali; Dupré, Nicolas; Montplaisir, Jacques-Yves; Giladi, Nir; Fahn, Stanley; Xiong, Lan; Dion, Patrick A.; Orr-Urtreger, Avi; Rouleau, Guy (Elsevier, 2015-06)
    INTRODUCTION: Several studies proposed that Restless Legs Syndrome (RLS) and Parkinson disease (PD) may be clinically and/or etiologically related. To examine this hypothesis, we aimed to determine whether the known RLS genetic markers may be associated ...
  • The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder 

    Gan-Or, Ziv; Mohsin, Noreen; Girard, Simon L.; Montplaisir, Jacques-Yves; Ambalavanan, Amirthagowri; Strong, Stephanie; Mallett, Victoria; Laurent, Sandra B.; Bourassa, Cynthia V.; Boivin, Michel; Langlois, Melanie; Arnulf, Isabelle; Högl, Birgit; Frauscher, Birgit; Monaca, Christelle; Desautels, Alex; Gagnon, Jean-François; Postuma, Ronald B.; Dion, Patrick A.; Dauvilliers, Yves; Dupré, Nicolas; Alcalay, Roy N.; Rouleau, Guy (Elsevier, 2016-07)
    The MC1R gene, suggested to be involved in Parkinson disease (PD) and melanoma, was sequenced in PD patients (n=539) and controls (n=265) from New-York, and PD patients (n=551), rapid eye movement sleep behavior disorder (RBD) patients (n=351) and ...