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Page 1
Inflammatory myopathies: an update for neurologists.
Silva AMS, Campos ED, Zanoteli E. Silva AMS, et al. Arq Neuropsiquiatr. 2022 May;80(5 Suppl 1):238-248. doi: 10.1590/0004-282X-ANP-2022-S131. Arq Neuropsiquiatr. 2022. PMID: 35976321 Free PMC article. Review.
In the past, only polymyositis, dermatomyositis and inclusion body myopathy were described. Currently, immune-mediated necrotizing myopathy, overlap myositis and antisynthetase syndrome have been considered the most common forms of IIM in clinical practice, i …
In the past, only polymyositis, dermatomyositis and inclusion body myopathy were described. Currently, immune-mediated …
Seeding-competent TDP-43 persists in human patient and mouse muscle.
Lynch EM, Pittman S, Daw J, Ikenaga C, Chen S, Dhavale DD, Jackrel ME, Ayala YM, Kotzbauer P, Ly CV, Pestronk A, Lloyd TE, Weihl CC. Lynch EM, et al. Sci Transl Med. 2024 Nov 27;16(775):eadp5730. doi: 10.1126/scitranslmed.adp5730. Epub 2024 Nov 27. Sci Transl Med. 2024. PMID: 39602508
However, TDP-43 aggregation is also a sensitive and specific pathologic feature found in a family of degenerative muscle diseases termed inclusion body myopathy. TDP-43 aggregates from amyotrophic lateral sclerosis (ALS) and frontotemporal dementia brain lysa …
However, TDP-43 aggregation is also a sensitive and specific pathologic feature found in a family of degenerative muscle diseases termed …
Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies.
Vidal J, Fernandez EA, Wohlwend M, Laurila PP, Lopez-Mejia A, Ochala J, Lobrinus AJ, Kayser B, Lopez-Mejia IC, Place N, Zanou N. Vidal J, et al. J Cachexia Sarcopenia Muscle. 2023 Dec;14(6):2882-2897. doi: 10.1002/jcsm.13349. Epub 2023 Nov 15. J Cachexia Sarcopenia Muscle. 2023. PMID: 37964752 Free PMC article.

RESULTS: RYR1 transcripts were reduced in muscle samples of patients suffering from necrotizing myopathy (P = 0.026), inclusion body myopathy (P = 0.003), polymyositis (P < 0.001) and juvenile dermatomyositis (P < 0.001) and in muscle samples of myotoni

…
RESULTS: RYR1 transcripts were reduced in muscle samples of patients suffering from necrotizing myopathy (P = 0.026), inclusion bo …
Valosin-Containing Protein (VCP)/p97 Oligomerization.
Yu G, Bai Y, Zhang ZY. Yu G, et al. Subcell Biochem. 2024;104:485-501. doi: 10.1007/978-3-031-58843-3_18. Subcell Biochem. 2024. PMID: 38963497 Review.
Pathogenic mutations frequently found at the interface between the NTD domain and D1 ATPase domain have been shown to cause malfunction of VCP, leading to degenerative disorders including the inclusion body myopathy associated with Paget disease of bone and f …
Pathogenic mutations frequently found at the interface between the NTD domain and D1 ATPase domain have been shown to cause malfunction of V …
Characteristics of VCP mutation-associated cardiomyopathy.
Wang SC, Smith CD, Lombardo DM, Kimonis V. Wang SC, et al. Neuromuscul Disord. 2021 Aug;31(8):701-705. doi: 10.1016/j.nmd.2021.06.005. Epub 2021 Jun 12. Neuromuscul Disord. 2021. PMID: 34244020 Free article.
VCP associated inclusion body myopathy, Paget's disease of bone, and Frontotemporal Dementia (IBMPFD, VCP disease, or multisystem proteinopathy type 1 (MSP1)) is an autosomal dominant disease caused by missense mutations in the VCP gene, which plays a crucial …
VCP associated inclusion body myopathy, Paget's disease of bone, and Frontotemporal Dementia (IBMPFD, VCP disease, or m …
Multisystem proteinopathy: Where myopathy and motor neuron disease converge.
Korb MK, Kimonis VE, Mozaffar T. Korb MK, et al. Muscle Nerve. 2021 Apr;63(4):442-454. doi: 10.1002/mus.27097. Epub 2020 Nov 3. Muscle Nerve. 2021. PMID: 33145792 Free article. Review.
Multisystem proteinopathy (MSP) is a pleiotropic group of inherited disorders that cause neurodegeneration, myopathy, and bone disease, and share common pathophysiology. Originally referred to as inclusion body myopathy associated with Paget disease of bone a …
Multisystem proteinopathy (MSP) is a pleiotropic group of inherited disorders that cause neurodegeneration, myopathy, and bone disease, and …
Genetics of frontotemporal dementia in China.
Jiang Y, Jiao B, Xiao X, Shen L. Jiang Y, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2021 Aug;22(5-6):321-335. doi: 10.1080/21678421.2021.1880596. Epub 2021 Feb 4. Amyotroph Lateral Scler Frontotemporal Degener. 2021. PMID: 33538206 Review.
The correlations between genes and clinical manifestations were MAPT and frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), GRN and frontotemporal lobar degeneration with TDP-43 proteinopathy (FTLD-TDP), C9orf72/CHCHD10/TBK1 and amyotrophic lateral sclero …
The correlations between genes and clinical manifestations were MAPT and frontotemporal dementia and parkinsonism linked to chromosome 17 (F …
Therapeutic developments for valosin-containing protein mediated multisystem proteinopathy.
Boock V, Roy B, Pfeffer G, Kimonis V. Boock V, et al. Curr Opin Neurol. 2023 Oct 1;36(5):432-440. doi: 10.1097/WCO.0000000000001184. Epub 2023 Aug 30. Curr Opin Neurol. 2023. PMID: 37678339 Review.
PURPOSE OF REVIEW: Missense mutations in valosin-containing protein (VCP) can lead to a multisystem proteinopathy 1 (MSP1) with any combination of limb-girdle distribution inclusion body myopathy (IBM) (present in about 90% of cases), Paget's disease of bone, …
PURPOSE OF REVIEW: Missense mutations in valosin-containing protein (VCP) can lead to a multisystem proteinopathy 1 (MSP1) with any combinat …
Contribution of Complement, Microangiopathy and Inflammation in Idiopathic Inflammatory Myopathies.
Honda M, Shimizu F, Sato R, Nakamori M. Honda M, et al. J Neuromuscul Dis. 2024;11(1):5-16. doi: 10.3233/JND-230168. J Neuromuscul Dis. 2024. PMID: 38143369 Free PMC article. Review.
PURPOSE OF REVIEW: Idiopathic inflammatory myopathies (IIMs) are a heterogeneous group characterized by muscle weakness and skin symptoms and are categorized into six subtypes: dermatomyositis (DM), polymyositis (PM), anti-synthetase syndrome (ASS), immune-mediated myopathy (IMNM …
PURPOSE OF REVIEW: Idiopathic inflammatory myopathies (IIMs) are a heterogeneous group characterized by muscle weakness and skin symptoms an …
Genetic and Clinical Spectrum of GNE Myopathy in Russia.
Murtazina A, Nikitin S, Rudenskaya G, Sharkova I, Borovikov A, Sparber P, Shchagina O, Chukhrova A, Ryzhkova O, Shatokhina O, Orlova A, Udalova V, Kanivets I, Korostelev S, Polyakov A, Dadali E, Kutsev S. Murtazina A, et al. Genes (Basel). 2022 Oct 31;13(11):1991. doi: 10.3390/genes13111991. Genes (Basel). 2022. PMID: 36360228 Free PMC article.
53 results