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Quoted phrase not found in phrase index: "Inclusion Body Myopathy, Dominant"
Page 1
Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion disease.
Tian Y, Zhou L, Gao J, Jiao B, Zhang S, Xiao Q, Xue J, Wang Y, Liang H, Liu Y, Ji G, Mao C, Liu C, Dong L, Zhang L, Zhang S, Yi J, Zhao G, Luo Y, Sun Q, Zhou Y, Yi F, Chen X, Zhou C, Xie N, Luo M, Yao L, Hu Y, Zhang M, Zeng Q, Fang L, Long HY, Xie Y, Weng L, Chen S, Du J, Xu Q, Feng L, Huang Q, Hou X, Wang J, Xie B, Zhou L, Long L, Guo JF, Wang J, Yan X, Jiang H, Xu H, Duan R, Tang B, Shen L. Tian Y, et al. J Neurol Neurosurg Psychiatry. 2022 Dec;93(12):1289-1298. doi: 10.1136/jnnp-2022-329772. Epub 2022 Sep 23. J Neurol Neurosurg Psychiatry. 2022. PMID: 36150844 Free PMC article.
Based on the initial presentation and main symptomology, NIID was divided into four subgroups: dementia dominant (n=94), movement disorder dominant (n=63), paroxysmal symptom dominant (n=61) and muscle weakness dominant (n=29). ...CONCLUSIONS: NIID is …
Based on the initial presentation and main symptomology, NIID was divided into four subgroups: dementia dominant (n=94), movement dis …
Hereditary inclusion-body myopathies.
Broccolini A, Mirabella M. Broccolini A, et al. Biochim Biophys Acta. 2015 Apr;1852(4):644-50. doi: 10.1016/j.bbadis.2014.08.007. Epub 2014 Aug 19. Biochim Biophys Acta. 2015. PMID: 25149037 Free article. Review.
The term hereditary inclusion-body myopathies (HIBMs) defines a group of rare muscle disorders with autosomal recessive or dominant inheritance and presence of muscle fibers with rimmed vacuoles and collection of cytoplasmic or nuclear 15-21 nm diamete …
The term hereditary inclusion-body myopathies (HIBMs) defines a group of rare muscle disorders with autosomal recessive …
Clinicopathological features of adult-onset neuronal intranuclear inclusion disease.
Sone J, Mori K, Inagaki T, Katsumata R, Takagi S, Yokoi S, Araki K, Kato T, Nakamura T, Koike H, Takashima H, Hashiguchi A, Kohno Y, Kurashige T, Kuriyama M, Takiyama Y, Tsuchiya M, Kitagawa N, Kawamoto M, Yoshimura H, Suto Y, Nakayasu H, Uehara N, Sugiyama H, Takahashi M, Kokubun N, Konno T, Katsuno M, Tanaka F, Iwasaki Y, Yoshida M, Sobue G. Sone J, et al. Brain. 2016 Dec;139(Pt 12):3170-3186. doi: 10.1093/brain/aww249. Epub 2016 Oct 25. Brain. 2016. PMID: 27797808 Free PMC article.
Neuronal intranuclear inclusion disease (NIID) is a slowly progressive neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in the central and peripheral nervous system, and also in the visceral organs. ...We analysed both NIID cases diag …
Neuronal intranuclear inclusion disease (NIID) is a slowly progressive neurodegenerative disease characterized by eosinophilic hyalin …
Distal myopathies.
Mastaglia FL, Lamont PJ, Laing NG. Mastaglia FL, et al. Curr Opin Neurol. 2005 Oct;18(5):504-10. doi: 10.1097/01.wco.0000175936.23945.b6. Curr Opin Neurol. 2005. PMID: 16155432 Review.
PURPOSE OF REVIEW: The distal myopathies are a heterogeneous group of disorders that pose a challenge to both the clinician and geneticist. ...RECENT FINDINGS: Publications over the past 5 years describe a number of new clinical phenotypes and genetic loci and further emph …
PURPOSE OF REVIEW: The distal myopathies are a heterogeneous group of disorders that pose a challenge to both the clinician and genet …
Autoimmune muscle disease.
Mammen A. Mammen A. Handb Clin Neurol. 2016;133:467-84. doi: 10.1016/B978-0-444-63432-0.00025-6. Handb Clin Neurol. 2016. PMID: 27112692 Review.
Patients with inclusion body myositis (IBM) usually present with the insidious onset of asymmetric weakness in distal muscles (e.g., wrist flexors, and distal finger flexors), often when more proximal muscle groups are relatively preserved. ...Along with the presenc …
Patients with inclusion body myositis (IBM) usually present with the insidious onset of asymmetric weakness in distal muscles …
Myopathies with finger flexor weakness: Not only inclusion-body myositis.
Nicolau S, Liewluck T, Milone M. Nicolau S, et al. Muscle Nerve. 2020 Oct;62(4):445-454. doi: 10.1002/mus.26914. Epub 2020 Jun 1. Muscle Nerve. 2020. PMID: 32478919 Review.
Among these, weakness predominantly affecting finger flexors is an uncommon pattern, most frequently found in sporadic inclusion-body myositis. This finding is particularly significant when the full range of histopathological findings of inclusion-body …
Among these, weakness predominantly affecting finger flexors is an uncommon pattern, most frequently found in sporadic inclusion-b …
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
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 …
VCP associated inclusion body myopathy, Paget's disease of bone, and Frontotemporal Dementia (IBMPFD, VCP disease, or m …
The role of interferons type I, II and III in myositis: A review.
Bolko L, Jiang W, Tawara N, Landon-Cardinal O, Anquetil C, Benveniste O, Allenbach Y. Bolko L, et al. Brain Pathol. 2021 May;31(3):e12955. doi: 10.1111/bpa.12955. Brain Pathol. 2021. PMID: 34043262 Free PMC article. Review.
The classification of idiopathic inflammatory myopathies (IIM) is based on clinical, serological and histological criteria. The identification of myositis-specific antibodies has helped to define more homogeneous groups of myositis into four dominant subsets: dermat …
The classification of idiopathic inflammatory myopathies (IIM) is based on clinical, serological and histological criteria. The ident …
Inclusion body myositis.
Chou SM. Chou SM. Baillieres Clin Neurol. 1993 Nov;2(3):557-77. Baillieres Clin Neurol. 1993. PMID: 8156143 Review.
FIBM is by and large non-inflammatory though some autosomal dominant FIBM cases have inflammatory cell infiltrates. In IBM, slowly progressive weakness of proximal as well as distal muscle groups occurs and is usually not associated with skin rash or malignancy. ...IBM is …
FIBM is by and large non-inflammatory though some autosomal dominant FIBM cases have inflammatory cell infiltrates. In IBM, slowly pr …
Phenotypic diversity in an international Cure VCP Disease registry.
Ikenaga C, Findlay AR, Seiffert M, Peck A, Peck N, Johnson NE, Statland JM, Weihl CC. Ikenaga C, et al. Orphanet J Rare Dis. 2020 Sep 29;15(1):267. doi: 10.1186/s13023-020-01551-0. Orphanet J Rare Dis. 2020. PMID: 32993728 Free PMC article.
BACKGROUND: Dominant mutations in valosin-containing protein (VCP) gene cause an adult onset inclusion body myopathy, Paget's disease of bone, and frontotemporal dementia also termed multisystem proteinopathy (MSP). ...RESULTS: In the questionnaires of …
BACKGROUND: Dominant mutations in valosin-containing protein (VCP) gene cause an adult onset inclusion body myopathy …
39 results