Neuromuscul Disord

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  Publication Venue For

  • Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group..  31:1296-1310. 2021
  • Late onset Pompe Disease in India - Beyond the Caucasian phenotype..  31:431-441. 2021
  • Respiratory muscle training in late-onset Pompe disease: Results of a sham-controlled clinical trial..  30:904-914. 2020
  • Obstructive sleep apnea in late-onset Pompe disease treated by enzyme replacement therapy..  30:329-330. 2020
  • Myasthenia triggered by immune checkpoint inhibitors: New case and literature review..  27:266-268. 2017
  • Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease..  25:321-332. 2015
  • A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations..  24:312-320. 2014
  • Polymorphism in the TOMM40 gene modifies the risk of developing sporadic inclusion body myositis and the age of onset of symptoms..  23:969-974. 2013
  • Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement..  23:319-323. 2013
  • Clinical and genetic characterization of manifesting carriers of DMD mutations..  20:499-504. 2010