Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases

RESEARCH

Prophylactic treatment of rapamycin ameliorates naturally developing and episode -induced heterotopic ossification in mice expressing human mutant ACVR1

Hirotsugu Maekawa, Shunsuke Kawai, Megumi Nishio, Sanae Nagata, Yonghui Jin, Hiroyuki Yoshitomi, Shuichi Matsuda and Junya Toguchida

Orphanet Journal of Rare Diseases 2020, 15:122 | Published on: 24 May 2020

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RESEARCH

Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients

C. Daccord, V. Cottin, G. Prévot, Y. Uzunhan, J. F. Mornex, P. Bonniaud, R. Borie, A. Briault, M. A. Collonge-Rame, B. Crestani, G. Devouassoux, O. Freynet, A. Gondouin, P. A. Hauss, C. Khouatra, S. Leroy…

Orphanet Journal of Rare Diseases 2020, 15:120 | Published on: 24 May 2020

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RESEARCH

Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels

Leire Casas-Fraile, Frederique M. Cornelis, Domiziana Costamagna, Anabel Rico, Robin Duelen, Maurilio M. Sampaolesi, Adolfo López de Munain, Rik J. Lories and Amets Sáenz

Orphanet Journal of Rare Diseases 2020, 15:119 | Published on: 24 May 2020

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RESEARCH

Study on depressive symptoms in patients with Mayer-Rokitansky-Küster-Hauser syndrome: an analysis of 141 cases

Na Chen, Shuang Song, Yanping Duan, Jia Kang, Shan Deng, Hongxin Pan and Lan Zhu

Orphanet Journal of Rare Diseases 2020, 15:121 | Published on: 24 May 2020

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