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Orphanet Journal of Rare Diseases|August 5, 2020
Onset features and time to diagnosis in Friedreich's AtaxiaElisabetta Indelicato, Wolfgang Nachbauer, Andreas Eigentler, et al.
Orphanet Journal of Rare Diseases|April 20, 2023
Toward patient-centered treatment goals for duchenne muscular dystrophy: insights from the "Your Voice" studyCarolyn E Schwartz, Skyler Jackson, James Valentine, et al.
Orphanet Journal of Rare Diseases|April 12, 2023
Retrospective file review shows limited genetic services fails most patients - an argument for the implementation of exome sequencing as a first-tier test in resource-constraint settingsEmma K Wiener, James Buchanan, Amanda Krause, et al.
Orphanet Journal of Rare Diseases|April 6, 2023
Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patientsYongchao Mou, Ghata Nandi, Sukhada Mukte, et al.
Orphanet Journal of Rare Diseases|July 8, 2020
Sickle cell disease in Sri Lanka: clinical and molecular basis and the unanswered questions about disease severityThamal Darshana, Dayananda Bandara, Upul Nawarathne, et al.
Orphanet Journal of Rare Diseases|July 12, 2020
Clinical features, treatment, and survival outcome of primary pulmonary NUT midline carcinomaXiao-Hong Xie, Li-Qiang Wang, Yin-Yin Qin, et al.
Orphanet Journal of Rare Diseases|March 12, 2015
A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in ItalyAndrea Zanichelli, Francesco Arcoleo, Maria Pina Barca, et al.
Orphanet Journal of Rare Diseases|March 12, 2015
New spastic paraplegia phenotype associated to mutation of NFU1Davide Tonduti, Imen Dorboz, Apolline Imbard, et al.
Orphanet Journal of Rare Diseases|March 12, 2015
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)Michaela Thoenes, Ulrike Zimmermann, Inga Ebermann, et al.
Orphanet Journal of Rare Diseases|August 18, 2020
Distinct promoter methylation patterns of LKB1 in the hamartomatous polyps of Peutz-Jeghers syndrome and its potential in gastrointestinal malignancy predictionTeng Li, Wensheng Lin, Yilei Zhao, et al.
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