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Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis.
Gaspar P, Kallemeijn WW, Strijland A, Scheij S, Van Eijk M, Aten J, Overkleeft HS, Balreira A, Zunke F, Schwake M, Sá Miranda C, Aerts JM. Gaspar P, et al. J Lipid Res. 2014 Jan;55(1):138-45. doi: 10.1194/jlr.M043802. Epub 2013 Nov 8. J Lipid Res. 2014. PMID: 24212238 Free PMC article.
Lysosomal integral membrane protein-2 (LIMP2) mediates trafficking of glucocerebrosidase (GBA) to lysosomes. Deficiency of LIMP2 causes action myoclonus-renal failure syndrome (AMRF). LIMP2-deficient fibroblasts virtually lack GBA like the cells …
Lysosomal integral membrane protein-2 (LIMP2) mediates trafficking of glucocerebrosidase (GBA) to lysosomes. Deficiency of LIMP2 causes a …
Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review.
Tian WT, Liu XL, Xu YQ, Huang XJ, Zhou HY, Wang Y, Tang HD, Chen SD, Luan XH, Cao L. Tian WT, et al. Seizure. 2018 Apr;57:80-86. doi: 10.1016/j.seizure.2018.03.015. Epub 2018 Mar 14. Seizure. 2018. PMID: 29605618 Free article. Review.
Generalized atrophy, ventricle enlargement and white matter degeneration was observed in brain magnetic resonance imaging (MRI). Open muscle biopsy and genetic analysis were performed. ...This mutation was not detected among the healthy controls and predicted to be …
Generalized atrophy, ventricle enlargement and white matter degeneration was observed in brain magnetic resonance imaging (MRI). Open …
Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.
Atasu B, Acarlı ANO, Bilgic B, Baykan B, Demir E, Ozluk Y, Turkmen A, Hauser AK, Guven G, Hanagasi H, Gurvit H, Emre M, Gasser T, Lohmann E. Atasu B, et al. BMC Neurol. 2022 Mar 28;22(1):122. doi: 10.1186/s12883-022-02628-y. BMC Neurol. 2022. PMID: 35346091 Free PMC article.
Intrafamilial clinical heterogeneity with common features including dysarthria, tremor and proteinuria, and distinct features such as peripheral neuropathy (PNP), myoclonus and seizures between the affected cases, was observed in the family. In-depth literature review enab …
Intrafamilial clinical heterogeneity with common features including dysarthria, tremor and proteinuria, and distinct features such as periph …
Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings.
Chaves J, Beirão I, Balreira A, Gaspar P, Caiola D, Sá-Miranda MC, Lima JL. Chaves J, et al. Seizure. 2011 Nov;20(9):738-40. doi: 10.1016/j.seizure.2011.06.018. Epub 2011 Jul 22. Seizure. 2011. PMID: 21782476 Free article.
Action myoclonus-renal failure syndrome (AMRF) is considered a rare form of progressive myoclonus epilepsy (PME) associated with renal failure. ...When substrate-reduction therapy, to correct the possible glucocerebroside storage in the cells wi …
Action myoclonus-renal failure syndrome (AMRF) is considered a rare form of progressive myoclonus epileps …