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Neurology|July 27, 2001
Presynaptic congenital myasthenic syndrome due to quantal release deficiencyR A Maselli, D Z Kong, C M Bowe, et al.
Clinical Genetics|December 24, 2010
Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNER A Maselli, J Arredondo, O Cagney, et al.
The Journal of Burn Care & Rehabilitation|November 1, 1995
The 1995 Lindberg Award. Nonthermally mediated muscle injury and necrosis in electrical traumaT A Block, J N Aarsvold, K L Matthews, et al.
Clinical Genetics|March 16, 2013
Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myastheniaR A Maselli, J Arredondo, J Nguyen, et al.
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