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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2009
A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry diseaseCatharina Whybra, Elke Miebach, Eugen Mengel, et al.
Pediatrics|October 17, 2007
Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A)Ann Meyer, Kai Kossow, Andreas Gal, et al.
Human Mutation|August 10, 2004
Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11)Hanno Bolz, Steffen-Sebastian Bolz, Götz Schade, et al.
Human Mutation|February 16, 2005
Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher diseaseChristian A Hübner, Ulrike Orth, Arne Senning, et al.
Human Mutation|April 15, 2008
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)Ann Meyer, Kai Kossow, Andreas Gal, et al.
Plos One|March 18, 2015
Ocular signs correlate well with disease severity and genotype in Fabry diseaseSusanne Pitz, Gisela Kalkum, Laila Arash, et al.
European Journal of Pediatrics|September 25, 2003
The early clinical phenotype of Fabry disease: a study on 35 European children and adolescentsMarkus Ries, Uma Ramaswami, Rossella Parini, et al.
Ophthalmic Genetics|April 18, 2009
Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?Claudia Schob, Ulrike Orth, Andreas Gal, et al.
Plos One|November 11, 2014
Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosaBastian Linder, Anja Hirmer, Andreas Gal, et al.
Clinical Chemistry|April 29, 2006
Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher diseaseIlka Warshawsky, Olga B Chernova, Christian A Hübner, et al.
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