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About 534 results

ALLMedicine™ Inclusion Body Myopathy Center

Research & Reviews  267 results

Ceramide contributes to pathogenesis and may be targeted for therapy in VCP inclusion b...
https://doi.org/10.1093/hmg/ddaa248
Human Molecular Genetics; Weiss L, Jung KM et. al.

Jan 7th, 2021 - Knock-in homozygote VCPR155H/R155H mutant mice are a lethal model of Valosin Containing Protein (VCP)-associated Inclusion Body Myopathy, Paget disease of bone, frontotemporal dementia, and amyotropic lateral sclerosis. Ceramide (d18:1/16:0) level...

The wide-ranging clinical and genetic features in Japanese families with valosin-contai...
https://doi.org/10.1016/j.neurobiolaging.2020.10.028
Neurobiology of Aging; Ando T, Nakamura R et. al.

Dec 19th, 2020 - Mutations in the valosin-containing protein (VCP) gene are known to cause various neurodegenerative disorders. Here, we report 8 Japanese patients [6 men, 2 women; median age at onset: 49.5 (range, 35-58) years] from 5 unrelated families with VCP ...

Multisystem proteinopathy: Where myopathy and motor neuron disease converge.
https://doi.org/10.1002/mus.27097
Muscle & Nerve REFERENCE; Korb MK, Kimonis VE et. al.

Nov 4th, 2020 - 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 disea...

Phenotypic diversity in an international Cure VCP Disease registry.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7523394
Orphanet Journal of Rare Diseases; Ikenaga C, Findlay AR et. al.

Sep 30th, 2020 - 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). The genotype-phenotype relationships in VCP...

Intravenous Immune Globulin to Treat Hereditary Inclusion Body Myopathy
https://clinicaltrials.gov/ct2/show/NCT00195637

Dec 3rd, 2019 - Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive neuromuscular disorder with onset in early adulthood and progressive muscle weakness leading to death within 2-3 decades. The causative gene, GNE, codes for the bifunctional enzym...

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Clinicaltrials.gov  267 results

Ceramide contributes to pathogenesis and may be targeted for therapy in VCP inclusion b...
https://doi.org/10.1093/hmg/ddaa248
Human Molecular Genetics; Weiss L, Jung KM et. al.

Jan 7th, 2021 - Knock-in homozygote VCPR155H/R155H mutant mice are a lethal model of Valosin Containing Protein (VCP)-associated Inclusion Body Myopathy, Paget disease of bone, frontotemporal dementia, and amyotropic lateral sclerosis. Ceramide (d18:1/16:0) level...

The wide-ranging clinical and genetic features in Japanese families with valosin-contai...
https://doi.org/10.1016/j.neurobiolaging.2020.10.028
Neurobiology of Aging; Ando T, Nakamura R et. al.

Dec 19th, 2020 - Mutations in the valosin-containing protein (VCP) gene are known to cause various neurodegenerative disorders. Here, we report 8 Japanese patients [6 men, 2 women; median age at onset: 49.5 (range, 35-58) years] from 5 unrelated families with VCP ...

Multisystem proteinopathy: Where myopathy and motor neuron disease converge.
https://doi.org/10.1002/mus.27097
Muscle & Nerve REFERENCE; Korb MK, Kimonis VE et. al.

Nov 4th, 2020 - 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 disea...

Phenotypic diversity in an international Cure VCP Disease registry.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7523394
Orphanet Journal of Rare Diseases; Ikenaga C, Findlay AR et. al.

Sep 30th, 2020 - 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). The genotype-phenotype relationships in VCP...

Intravenous Immune Globulin to Treat Hereditary Inclusion Body Myopathy
https://clinicaltrials.gov/ct2/show/NCT00195637

Dec 3rd, 2019 - Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive neuromuscular disorder with onset in early adulthood and progressive muscle weakness leading to death within 2-3 decades. The causative gene, GNE, codes for the bifunctional enzym...

see more →