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Orphanet Journal of Rare Diseases|June 21, 2017
Do investors value the FDA orphan drug designation?Kathleen L Miller
Orphanet Journal of Rare Diseases|May 12, 2017
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 casesLukas J Schnitzler, Tobias Schreckenbach, Aleksandra Nadaj-Pakleza, et al.
Orphanet Journal of Rare Diseases|May 13, 2017
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutationsAlessia Nasca, Teresa Rizza, Mara Doimo, et al.
Orphanet Journal of Rare Diseases|April 4, 2018
A perspective on "cure" for Rett syndromeAngus John Clarke, Ana Paula Abdala Sheikh
Orphanet Journal of Rare Diseases|April 18, 2018
Gastrointestinal and urinary complaints in adults with hereditary spastic paraparesisØivind J Kanavin, Krister W Fjermestad
Orphanet Journal of Rare Diseases|June 30, 2017
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxiaJessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, et al.
Orphanet Journal of Rare Diseases|June 30, 2017
Neural stem cells for disease modeling of Wolman disease and evaluation of therapeuticsFrancis Aguisanda, Charles D Yeh, Catherine Z Chen, et al.
Orphanet Journal of Rare Diseases|April 25, 2018
Less invasive treatment of sleep-disordered breathing in children with syndromic craniosynostosisSilvia Müller-Hagedorn, Cornelia Wiechers, Jörg Arand, et al.
Orphanet Journal of Rare Diseases|June 27, 2018
Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive reviewSalma Adham, Denis Trystram, Juliette Albuisson, et al.
Orphanet Journal of Rare Diseases|June 27, 2018
Status of nutrients important in brain function in phenylketonuria: a systematic review and meta-analysisGina A Montoya Parra, Rani H Singh, Aysun Cetinyurek-Yavuz, et al.
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