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rare disease

  • EDITORIAL
    Moving neuromuscular disorders research forward: from novel models to clinical studies
    Maaike van Putten, Julija Hmeljak, Annemieke Aartsma-Rus, James J. Dowling
    Disease Models & Mechanisms 2020 13: dmm044370 doi: 10.1242/dmm.044370 Published 25 February 2020

    Summary: This Editorial summarizes the highlights of DMM's Special Issue ‘A Guide to Using Neuromuscular Disease Models for Basic and Preclinical Studies’.

  • RESEARCH ARTICLE
    A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy
    Celia Cordero-Sanchez, Beatrice Riva, Simone Reano, Nausicaa Clemente, Ivan Zaggia, Federico A. Ruffinatti, Alberto Potenzieri, Tracey Pirali, Salvatore Raffa, Sabina Sangaletti, Mario P. Colombo, Alessandra Bertoni, Matteo Garibaldi, Nicoletta Filigheddu, Armando A. Genazzani
    Disease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019

    Summary: We describe a mouse model (KI-STIM1I115F) that displays the clinical hallmarks of tubular aggregate myopathy. This model provides a new opportunity to characterize the disorder and test novel therapeutic strategies.

  • EDITORIAL
    From gene to treatment: supporting rare disease translational research through model systems
    Julija Hmeljak, Monica J. Justice (Editor-in-Chief)
    Disease Models & Mechanisms 2019 12: dmm039271 doi: 10.1242/dmm.039271 Published 22 February 2019

    Summary: This Editorial discusses the importance of model systems with accurate face, construct, target and predictive validity for rare disease research.

  • RESEARCH ARTICLE
    Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice
    Jasmin Barman-Aksözen, Paulina C´wiek, Vijay B. Bansode, Frank Koentgen, Judith Trüb, Pawel Pelczar, Paolo Cinelli, Xiaoye Schneider-Yin, Daniel Schümperli, Elisabeth I. Minder
    Disease Models & Mechanisms 2017 10: 225-233; doi: 10.1242/dmm.027755

    Summary: A new mouse model reproduces the predominant genetic disposition of patients affected by erythropoietic protoporphyria, a rare disease associated with extreme pain after light exposure.

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