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MJD is the most common dominantly inherited cerebellar ataxia in the world [30].
Here we explore alternative splicing in the polyglutamine disorder Spinocerebellar ataxia type 3 (SCA3), the most common dominantly inherited ataxia.
Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3, is the most common dominantly inherited ataxia worldwide and it is caused by a polyglutamine (polyQ) expansion in ataxin-3 (atx3), a polyubiquitin-binding protein [1] with ubiquitin protease activity [2].
The most common dominantly inherited ataxia is spinocerebellar ataxia 3 (SCA3).
HD is one of a larger class of diseases known as polyglutamine (polyQ) diseases, of which there are numerous ataxias, including the most common dominantly inherited ataxia spinocerebellar ataxia type-3 [SCalsoalso known as Machado Joseph disease (MJD)].
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These diseases are monogenic and inherited dominantly– and although rare they constitute the most common form of inherited neurodegenerative disorders.
Currently, mutations in the HNF1a gene are known to be the most common cause of maturity onset diabetes of the young (MODY), a severe dominantly inherited form of nonketotic diabetes mellitus that is characterized by pancreatic beta-cell dysfunction [ 9– 15].
Mutations in LRRK2 cause a dominantly inherited form of Parkinson's disease (PD) and are the most common known genetic determinant of PD.
Dominantly inherited nonsense and missense mutations that completely disable MC4R represent the most common apparent molecular mechanism for obesity; however, recessive modes of inheritance are also encountered (15).
Dominantly inherited mutations in the leucine-rich repeat kinase 2 gene (LRRK2) are the most common cause of familial Parkinson's disease (PD) and have also been identified in individuals with sporadic PD.
Most common was Atrazine.
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