Nationwide survey of patients with multisystem proteinopathy in Japan.

Autor: Yamashita, Satoshi^1,2 (AUTHOR) y-stsh@iuhw.ac.jp, Takahashi, Yuji³ (AUTHOR), Hashimoto, Jun⁴ (AUTHOR), Murakami, Ayuka⁵ (AUTHOR), Nakamura, Ryoichi^5,6 (AUTHOR), Katsuno, Masahisa^5,7 (AUTHOR), Izumi, Rumiko⁸ (AUTHOR), Suzuki, Naoki⁸ (AUTHOR), Warita, Hitoshi⁸ (AUTHOR), Aoki, Masashi⁸ (AUTHOR), Mori‐Yoshimura, Madoka (AUTHOR), Matsumoto, Shinichi (AUTHOR), Sakai, Tetsuo (AUTHOR), Tanaka, Hiroyasu (AUTHOR), Ikeda, Masaki (AUTHOR), Kuru, Satoshi (AUTHOR), Tamaoka, Akira (AUTHOR), Taniguchi, Daisuke (AUTHOR), Sakae, Nobutaka (AUTHOR), Toyooka, Keiko (AUTHOR)

Publikováno v: Annals of Clinical & Translational Neurology. Apr2024, Vol. 11 Issue 4, p938-945. 8p.

Expression of multisystem proteinopathy (MSP) proteins in rimmed vacuolated fibers of tibial muscular dystrophy – Distal titinopathy

Autor: Hannu Haapasalo, Bjarne Udd, Mikaela Lindfors, Sanna Huovinen

Publikováno v: Neuromuscular Disorders. 26:S114

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c2f28d2b7ab310a98465a999f7346b83
https://doi.org/10.1016/j.nmd.2016.06.105

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Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy.

Autor: Roy, Bhaskar¹ (AUTHOR) bhaskar.roy@yale.edu, Peck, Allison² (AUTHOR), Evangelista, Teresinha³ (AUTHOR), Pfeffer, Gerald⁴ (AUTHOR), Wang, Leo⁵ (AUTHOR), Diaz‐Manera, Jordi⁶ (AUTHOR), Korb, Manisha⁷ (AUTHOR), Wicklund, Matthew P.⁸ (AUTHOR), Milone, Margherita⁹ (AUTHOR), Freimer, Miriam¹⁰ (AUTHOR), Kushlaf, Hani¹¹ (AUTHOR), Villar‐Quiles, Rocio‐Nur¹² (AUTHOR), Stojkovic, Tanya¹² (AUTHOR), Needham, Merrilee¹³ (AUTHOR), Palmio, Johanna¹⁴ (AUTHOR), Lloyd, Thomas E.^15,16 (AUTHOR), Keung, Benison¹ (AUTHOR), Mozaffar, Tahseen⁷ (AUTHOR), Weihl, Conrad Chris¹⁷ (AUTHOR), Kimonis, Virginia^7,18 (AUTHOR) vkimonis@hs.uci.edu

Publikováno v: Annals of Clinical & Translational Neurology. May2023, Vol. 10 Issue 5, p686-695. 10p.

Role of RNA Binding Proteins with prion-like domains in muscle and neuromuscular diseases

Autor: Picchiarelli, Gina, Dupuis, Luc

Publikováno v: Cell Stress
Cell Stress, Shared Science Publishers OG, 2020, 4 (4), pp.76-91. ⟨10.15698/cst2020.04.217⟩
Cell Stress, 2020, 4 (4), pp.76-91. ⟨10.15698/cst2020.04.217⟩
Cell Stress, Vol 4, Iss 4, Pp 76-91 (2020)

International audience; A number of neuromuscular and muscular diseases, including amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA) and several myopathies, are associated to mutations in related RNA-binding proteins (RBPs), includin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1e7396c6d3e06664a66a1c832369c4e7
https://www.hal.inserm.fr/inserm-03376301/document