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Chemotherapy for the treatment of malignant peripheral nerve sheath tumors in neurofibromatosis 1: a 10-year institutional review 23 Aug 2013 | 05:00 am

Background: Neurofibromatosis 1 (NF1) is the most common autosomal dominant disorder, with an incidence of 1 in 2,500-3,300 live births. NF1 is associated with significant morbidity and mortality beca...

A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder 17 Aug 2013 | 05:00 am

Background: To elucidate the genetic basis of a novel neurodegenerative disorder in an Old Order Amish pedigree by combining homozygosity mapping with exome sequencing.Methods and results: We identifi...

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