‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies-Reference-Cited by-同舟云学术

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‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

Published:2019-01-05 Issue:1 Volume:7 Page:
ISSN:2051-5960
Container-title:Acta Neuropathologica Communications
language:en
Short-container-title:acta neuropathol commun

Author:

Garibaldi Matteo^ORCID,Rendu John,Brocard Julie,Lacene Emmanuelle,Fauré Julien,Brochier Guy,Beuvin Maud,Labasse Clemence,Madelaine Angeline,Malfatti Edoardo,Bevilacqua Jorge Alfredo,Lubieniecki Fabiana,Monges Soledad,Taratuto Ana Lia,Laporte Jocelyn,Marty Isabelle,Antonini Giovanni,Romero Norma Beatriz

Funder

AFM-Téléthon

JAB

Sapienza Università di Roma

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Pathology and Forensic Medicine

Link

http://link.springer.com/content/pdf/10.1186/s40478-018-0655-5.pdf

Reference41 articles.

1. Abath Neto O, Moreno C de AM, Malfatti E, Donkervoort S, Böhm J, Guimarães JB, Foley AR, Mohassel P, Dastgir J, Bharucha-Goebel DX, Monges S, Lubieniecki F, Collins J, Medne L, Santi M, Yum S, Banwell B, Salort-Campana E, Rendu J, Fauré J, Yis U, Eymard B, Cheraud C, Schneider R, Thompson J, Lornage X, Mesrob L, Lechner D, Boland A, Deleuze J-F, Reed UC, Oliveira ASB, Biancalana V, Romero NB, Bönnemann CG, Laporte J, Zanoteli E (2017) Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients. Neuromuscul Disord 27:975–985. https://doi.org/10.1016/j.nmd.2017.05.016 .

2. Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ (2013) Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet J Rare Dis 8:117. https://doi.org/10.1186/1750-1172-8-117 .

3. Bai X-C, Yan Z, Wu J, Li Z, Yan N (2016) The Central domain of RyR1 is the transducer for long-range allosteric gating of channel opening. Cell Res 26:995–1006. https://doi.org/10.1038/cr.2016.89 .

4. Bevilacqua JA, Monnier N, Bitoun M, Eymard B, Ferreiro A, Monges S, Lubieniecki F, Taratuto AL, Laquerrière A, Claeys KG, Marty I, Fardeau M, Guicheney P, Lunardi J, Romero NB (2011) Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. Neuropathol Appl Neurobiol 37:271–284. https://doi.org/10.1111/j.1365-2990.2010.01149.x .

5. Bharucha-Goebel DX, Santi M, Medne L, Zukosky K, Zukosky K, Dastgir J, Shieh PB, Winder T, Tennekoon G, Finkel RS, Dowling JJ, Monnier N, Bönnemann CG (2013) Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. Neurology 80:1584–1589. https://doi.org/10.1212/WNL.0b013e3182900380 .

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3. Functional benefit of CRISPR/Cas9-induced allele deletion forRYR1dominant mutation;2024-01-25

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