Inclusion Body Myopathy 3
What's New
Last Posted: Sep 24, 2024
- Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1.
Sarah E Robinson, et al. Neurology. Genetics 2024 0 (5) e200191 - Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy.
Shmara Alyaa, et al. Neurology. Genetics 2023 0 (1) e200037 - Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis.
Fifita Jennifer A, et al. Neuro-degenerative diseases 2017 0 (6) 304-312 - [Inclusion Body Myopathy, Paget's Disease, and Fronto-temporal Dementia: a VCP-related Multi-systemic Proteinopathy].
Mengel David, et al. Fortschritte der Neurologie-Psychiatrie 2018 0 (7) 434-438 - Three VCP Mutations in Patients with Frontotemporal Dementia.
Wong Tsz Hang, et al. Journal of Alzheimer's disease : JAD 2018 0 (4) 1139-1146 - Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis.
Lu Yan, et al. Frontiers in neuroscience 2018 0 329 - Genetics of frontotemporal dementia in China.
Jiang Yaling, et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2021 0 (5-6) 321-335 - Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.
Weihl Conrad C, et al. Neuromuscular disorders : NMD 2015 4 (4) 289-96 - hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.
Le Ber Isabelle, et al. Neurobiology of aging 2014 4 (4) 934.e5-6 - Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis.
Calini Daniela, et al. Neurobiology of aging 2013 11 (11) 2695.e11-2
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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