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Glycogen metabolism and structure: A review
Glycogen is a glucose polymer that plays a crucial role in glucose homeostasis by
functioning as a short-term energy storage reservoir in animals and bacteria. Abnormalities …
functioning as a short-term energy storage reservoir in animals and bacteria. Abnormalities …
Lafora progressive myoclonus epilepsy: Disease mechanism and therapeutic attempts
Lafora disease (LD) is a life-threatening autosomal recessive and progressive
neurodegenerative disorder that primarily affects adolescents, resulting in mortality within a …
neurodegenerative disorder that primarily affects adolescents, resulting in mortality within a …
Myofiber-type-dependent 'boulder'or 'multitudinous pebble'formations across distinct amylopectinoses
At least five enzymes including three E3 ubiquitin ligases are dedicated to glycogen's
spherical structure. Absence of any reverts glycogen to a structure resembling amylopectin …
spherical structure. Absence of any reverts glycogen to a structure resembling amylopectin …
Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders
SRY-box transcription factor (SOX) genes, a recently discovered gene family, play crucial
roles in the regulation of neuronal stem cell proliferation and glial differentiation during …
roles in the regulation of neuronal stem cell proliferation and glial differentiation during …
1H and 31P magnetic resonance spectroscopy reveals potential pathogenic and biomarker metabolite alterations in Lafora disease
KL Chan, A Panatpur, S Messahel… - Brain …, 2024 - academic.oup.com
Lafora disease is a fatal teenage-onset progressive myoclonus epilepsy and
neurodegenerative disease associated with polyglucosan bodies. Polyglucosans are long …
neurodegenerative disease associated with polyglucosan bodies. Polyglucosans are long …
Impaired malin expression and interaction with partner proteins in Lafora disease
Lafora disease (LD) is an autosomal recessive myoclonus epilepsy with onset in the
teenage years leading to death within a decade of onset. LD is characterized by the …
teenage years leading to death within a decade of onset. LD is characterized by the …
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data
Background Lafora disease (LD) is a fatal form of progressive myoclonic epilepsy caused by
biallelic pathogenic variants in EPM2A or NHLRC1. With a few exceptions, the influence of …
biallelic pathogenic variants in EPM2A or NHLRC1. With a few exceptions, the influence of …
[HTML][HTML] Epm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a−/− mice
DF Burgos, M Sciaccaluga, CA Worby… - Neurobiology of …, 2023 - Elsevier
Lafora disease is a rare recessive form of progressive myoclonic epilepsy, usually
diagnosed during adolescence. Patients present with myoclonus, neurological deterioration …
diagnosed during adolescence. Patients present with myoclonus, neurological deterioration …
Supporting the translation of multiscale research in rare disease
KM Hooper, J Hmeljak - Disease Models & Mechanisms, 2023 - journals.biologists.com
Since its launch in 2008, Disease Models & Mechanisms (DMM) has been a welcoming
home for research in rare and ultra-rare disease. Owing to its position at the intersection …
home for research in rare and ultra-rare disease. Owing to its position at the intersection …
Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home‐Cage Behavior
Lafora disease (LD) is a syndrome of progressive myoclonic epilepsy and cumulative
neurocognitive deterioration caused by recessively inherited genetic lesions of EPM2A …
neurocognitive deterioration caused by recessively inherited genetic lesions of EPM2A …