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Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.
Pondrelli F, Muccioli L, Licchetta L, Mostacci B, Zenesini C, Tinuper P, Vignatelli L, Bisulli F. Pondrelli F, et al. Orphanet J Rare Dis. 2021 Aug 16;16(1):362. doi: 10.1186/s13023-021-01989-w. Orphanet J Rare Dis. 2021. PMID: 34399803 Free PMC article.
BACKGROUND: Lafora disease (LD) is a rare fatal autosomal recessive form of progressive myoclonus epilepsy. ...
BACKGROUND: Lafora disease (LD) is a rare fatal autosomal recessive form of progressive myoclonus epilepsy. ...
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.
Pondrelli F, Minardi R, Muccioli L, Zenesini C, Vignatelli L, Licchetta L, Mostacci B, Tinuper P, Vander Kooi CW, Gentry MS, Bisulli F. Pondrelli F, et al. Orphanet J Rare Dis. 2023 Sep 2;18(1):263. doi: 10.1186/s13023-023-02880-6. Orphanet J Rare Dis. 2023. PMID: 37658439 Free PMC article.
BACKGROUND: Lafora disease (LD) is a fatal form of progressive myoclonic epilepsy caused by biallelic pathogenic variants in EPM2A or NHLRC1. ...
BACKGROUND: Lafora disease (LD) is a fatal form of progressive myoclonic epilepsy caused by biallelic pathogenic variants in E …
FDG-PET assessment and metabolic patterns in Lafora disease.
Muccioli L, Farolfi A, Pondrelli F, d'Orsi G, Michelucci R, Freri E, Canafoglia L, Licchetta L, Toni F, Bonfiglioli R, Civollani S, Pettinato C, Maietti E, Marotta G, Fanti S, Tinuper P, Bisulli F. Muccioli L, et al. Eur J Nucl Med Mol Imaging. 2020 Jun;47(6):1576-1584. doi: 10.1007/s00259-019-04647-3. Epub 2019 Dec 19. Eur J Nucl Med Mol Imaging. 2020. PMID: 31858178
PURPOSE: To describe cerebral glucose metabolism pattern as assessed by (18)F-fluorodeoxyglucose positron emission tomography (FDG-PET) in Lafora disease (LD), a rare, lethal form of progressive myoclonus epilepsy caused by biallelic mutations in EPM2A or NHLRC1. .. …
PURPOSE: To describe cerebral glucose metabolism pattern as assessed by (18)F-fluorodeoxyglucose positron emission tomography (FDG-PET) in …