Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases For articles using Author Version-first publication you will see a provisional PDF corresponding to the accepted manuscript. In these instances, the fully formatted Final Version PDF and full text (HTML) versions will follow in due course.

Research   Comparisons of intellectual capacities between mild and classic adult-onset phenotypes of myotonic dystrophy type 1 (DM1) Jean S, Richer L, Laberge L, Mathieu JOrphanet Journal of Rare Diseases 2014, 9 :186 (26 November 2014) Abstract | Provisional PDF Research   TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex Kingswood JC, Bruzzi P, Curatolo P, de Vries PJ, Fladrowski C, Hertzberg C, Jansen AC, Jozwiak S, Nabbout R, Sauter M, Touraine R, O’Callaghan F, Zonnenberg B, Crippa S, Comis S, d’Augères G, Belousova E, Carter T, Cottin V, Dahlin M, Ferreira J, Macaya A, Benedik M, Sander V, Youroukos S, Castellana R, Ulker B, Feucht MOrphanet Journal of Rare Diseases 2014, 9 :182 (26 November 2014) Abstract | Provisional PDF Research   Genomic screening of testicular germ cell tumors from monozygotic twins Silveira S, da Cunha I, Marchi F, Busso A, Lopes A, Rogatto SOrphanet Journal of Rare Diseases 2014, 9 :181 (26 November 2014) Abstract | Provisional PDF Research   Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype Schelleckes M, Lenders M, Guske K, Schmitz B, Tanislav C, Ständer S, Metze D, Katona I, Weis J, Brand S, Duning T, Brand EOrphanet Journal of Rare Diseases 2014, 9 :178 (26 November 2014) Abstract | Provisional PDF Research   Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning Eggink H, Kuiper A, Peall KJ, Contarino M, Bosch AM, Post B, Sival DA, Tijssen M, de Koning TJOrphanet Journal of Rare Diseases 2014, 9 :177 (26 November 2014) Abstract | Provisional PDF Research   Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study Abela L, Plecko B, Palla A, Burda P, Nuoffer J, Ballhausen D, Rohrbach MOrphanet Journal of Rare Diseases 2014, 9 :176 (26 November 2014) Abstract | Provisional PDF Research   Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1 Dorboz I, Coutelier M, Bertrand AT, Caberg J, Elmaleh-Bergès M, Lainé J, Stevanin G, Bonne G, Boespflug-Tanguy O, Servais LOrphanet Journal of Rare Diseases 2014, 9 :174 (26 November 2014) Abstract | Provisional PDF Research   Identification and characterisation of eight novel SERPINA1 null mutations Ferrarotti I, Carroll TP, Ottaviani S, Fra AM, O’Brien G, Molloy K, Corda L, Medicina D, Curran DR, McElvaney NG, Luisetti MOrphanet Journal of Rare Diseases 2014, 9 :172 (26 November 2014) Abstract | Provisional PDF Research   Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis Hildebrandt J, Yalcin E, Bresser H, Cinel G, Gappa M, Haghighi A, Kiper N, Khalilzadeh S, Reiter K, Sayer J, Schwerk N, Sibbersen A, Van Daele S, Nübling G, Lohse P, Griese MOrphanet Journal of Rare Diseases 2014, 9 :171 (26 November 2014) Abstract | Provisional PDF Research   A comparison of interventional clinical trials in rare versus non-rare diseases: an analysis of ClinicalTrials.gov Bell SA, Tudur Smith COrphanet Journal of Rare Diseases 2014, 9 :170 (26 November 2014) Abstract | Provisional PDF Research   Agalsidase alfa in pediatric patients with Fabry disease: a 6.5-year open-label follow-up study Schiffmann R, Pastores GM, Lien YH, Castaneda V, Chang P, Martin R, Wijatyk AOrphanet Journal of Rare Diseases 2014, 9 :169 (26 November 2014) Abstract | Provisional PDF Review   Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management Nie S, Chen G, Cao X, Zhang YOrphanet Journal of Rare Diseases 2014, 9 :179 (26 November 2014) Abstract | Provisional PDF