Pathology - Journal Articles

Pathology - Journal Articles

 

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  • Merwick, Áine; Mok, Tzehow; McNamara, Brian; Parfrey, Nollaig A.; Moore, Helena; Sweeney, Brian J.; Hand, Collette K.; Ryan, Aisling M. (Wiley, 2014-12-06)
  • Skehan, Evelyn B.; Abdulrahim, Manal M. A.; Parfrey, Nollaig A.; Hand, Collette K. (Springer, 2021-03-14)
    Restless legs syndrome (RLS) is a common, sleep-related movement disorder. The symptoms follow a circadian pattern, worsening in the evening or night, leading to sleep disruption and daytime somnolence. Familial forms of ...
  • Fernandez, Desiree M.; Hand, Collette K.; Sweeney, Brian J.; Parfrey, Nollaig A. (Wiley, 2008-01)
    Objective: We studied a large Irish Caucasian pedigree with familial hemiplegic migraine (FHM) with the aim of finding the causative gene mutation. Background: FHM is a rare autosomal-dominant subtype of migraine with aura, ...
  • Hand, Collette K.; Bernard, Genevieve; Dube, Marie-Pierre; Shevell, Michael I.; Rouleau, Guy A. (Cambridge University Press, 2012-12-02)
    Objectives: To characterize at clinical and molecular levels a family presenting with X-linked recessive Hereditary Spastic Paraplegia (HSP). Background: HSPs are a large group of genetically heterogeneous neurodegenerative ...
  • Hand, Collette K.; McGuire, Mairide; Parfrey, Nollaig A.; Murphy, Conor C. (Taylor & Francis, 2016-04-08)
    Background: Congenital hereditary endothelial dystrophy (CHED) is a genetic disorder of corneal endothelial cells resulting in corneal clouding and visual impairment. Autosomal dominant (CHED1) and autosomal recessive ...

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