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Brain pathology of spinocerebellar ataxias
The autosomal dominant cerebellar ataxias (ADCAs) represent a heterogeneous group of
neurodegenerative diseases with progressive ataxia and cerebellar degeneration. The …
neurodegenerative diseases with progressive ataxia and cerebellar degeneration. The …
Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7
The spinocerebellar ataxias type 1 (SCA1), 2 (SCA2), 3 (SCA3), 6 (SCA6) and 7 (SCA7) are
genetically defined autosomal dominantly inherited progressive cerebellar ataxias (ADCAs) …
genetically defined autosomal dominantly inherited progressive cerebellar ataxias (ADCAs) …
SCA3: neurological features, pathogenesis and animal models
The most frequent subtype of autosomal dominant inherited spinocerebellar ataxias is
caused by CAG repeat expansions of more than 55 units in the ataxin-3 gene. The clinical …
caused by CAG repeat expansions of more than 55 units in the ataxin-3 gene. The clinical …
Spinocerebellar ataxia 2 (SCA2)
Abstract Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited,
neurodegenerative disease. It can manifest either with a cerebellar syndrome or as …
neurodegenerative disease. It can manifest either with a cerebellar syndrome or as …
Spinocerebellar ataxia type 2: clinicogenetic aspects, mechanistic insights, and management approaches
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia that
occurs as a consequence of abnormal CAG expansions in the ATXN2 gene. Progressive …
occurs as a consequence of abnormal CAG expansions in the ATXN2 gene. Progressive …
[HTML][HTML] Mammalian ataxin-2 modulates translation control at the pre-initiation complex via PI3K/mTOR and is induced by starvation
I Lastres-Becker, D Nonis, F Eich, M Klinkenberg… - … et Biophysica Acta (BBA …, 2016 - Elsevier
Ataxin-2 is a cytoplasmic protein, product of the ATXN2 gene, whose deficiency leads to
obesity, while its gain-of-function leads to neural atrophy. Ataxin-2 affects RNA homeostasis …
obesity, while its gain-of-function leads to neural atrophy. Ataxin-2 affects RNA homeostasis …
Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives
Abstract Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant genetic disease
characterized by cerebellar dysfunction associated with slow saccades, early hyporeflexia …
characterized by cerebellar dysfunction associated with slow saccades, early hyporeflexia …
A comprehensive review of spinocerebellar ataxia type 2 in Cuba
Abstract Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia
characterized by a progressive cerebellar syndrome associated to saccadic slowing …
characterized by a progressive cerebellar syndrome associated to saccadic slowing …
Autophagy in Spinocerebellar ataxia type 2, a dysregulated pathway, and a target for therapy
Abstract Spinocerebellar ataxia type 2 (SCA2) is an incurable and genetic
neurodegenerative disorder. The disease is characterized by progressive degeneration of …
neurodegenerative disorder. The disease is characterized by progressive degeneration of …
Progression of early features of spinocerebellar ataxia type 2 in individuals at risk: a longitudinal study
Background The effects of ATXN2 expansion on the nervous system arise before the
cerebellar syndrome can be diagnosed; however, progression of the underlying early …
cerebellar syndrome can be diagnosed; however, progression of the underlying early …