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Orphanet Journal of Rare Diseases|December 23, 2015
Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustatLarry A Abel, Mark Walterfang, Matthew J Stainer, et al.
Orphanet Journal of Rare Diseases|February 8, 2016
Posterior cortical atrophy as a primary clinical phenotype of corticobasal syndrome with a progranulin gene rs5848 TT genotypeGuoping Peng, Ping Liu, Fangping He, et al.
Orphanet Journal of Rare Diseases|December 11, 2014
Polytherapy with a combination of three repurposed drugs (PXT3003) down-regulates Pmp22 over-expression and improves myelination, axonal and functional parameters in models of CMT1A neuropathyIlya Chumakov, Aude Milet, Nathalie Cholet, et al.
Orphanet Journal of Rare Diseases|December 16, 2014
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotypeMarie-Lorraine Monin, Cyril Mignot, Pascale De Lonlay, et al.
Orphanet Journal of Rare Diseases|September 30, 2015
Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years' treatmentChristoph Kampmann, Amandine Perrin, Michael Beck
Orphanet Journal of Rare Diseases|August 26, 2015
The media and access issues: content analysis of Canadian newspaper coverage of health policy decisionsChristen Rachul, Timothy Caulfield
Orphanet Journal of Rare Diseases|September 17, 2015
A conceptual disease model for adult Pompe diseaseTim A Kanters, W Ken Redekop, Maureen P M H Rutten-Van Mölken, et al.
Orphanet Journal of Rare Diseases|September 5, 2015
Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose studyOle B Suhr, Teresa Coelho, Juan Buades, et al.
Orphanet Journal of Rare Diseases|September 27, 2014
Two years' experience with denosumab for children with osteogenesis imperfecta type VIHeike Hoyer-Kuhn, Christian Netzer, Friederike Koerber, et al.
Orphanet Journal of Rare Diseases|September 28, 2014
Lack of cathelicidin processing in Papillon-Lefèvre syndrome patients reveals essential role of LL-37 in periodontal homeostasisSigrun Eick, Magdalena Puklo, Karina Adamowicz, et al.
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