A common mutation (ε1267delG) in congenital myasthenic patients of Gypsy ethnic origin
1999 · Neurology · 107 citations
https://doi.org/10.1212/wnl.53.7.1564
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Ágnes Herczegfalvi
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Ágnes Herczegfalvi is an academic researcher from Semmelweis University. The author has contributed to research in topics: Muscle Physiology and Disorders & Neurogenetic and Muscular Disorders Research & RNA Research and Splicing. The author has an h-index of 15, co-authored 46 publications.
Papers by this author
worksMapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
2013 · Journal of Neurology · 105 citations
https://doi.org/10.1007/s00415-013-7154-1
Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report
2014 · Journal of Medical Case Reports · 12 citations
https://doi.org/10.1186/1752-1947-8-233
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