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Exosomal Protein Deficiencies
Defects of RNA metabolism have been increasingly identified in various forms of inherited neurological diseases. Recently, abnormal RNA degradation due to mutations in human exosome subunit genes has been shown to cause complex...
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A Descriptive Account of Victims’ Behaviour and Responses in Sexually Exploitative Interactions with Offenders
Transcripts of chat logs of sexually exploitative interactions between offenders and victims that took place via Internet communication platforms were analysed. The aim of the study was to examine victims’ behaviour and...
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Modelling Charcot-Marie-Tooth disease in a dish reveals common cell type-specific alterations.
This scientific commentary refers to ‘Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction’, by Van Lent et al. (doi:10.1093/brain/awab226).
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Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok -/- zebrafish.
Deoxyguanosine kinase (dGK) is an essential rate-limiting component of the mitochondrial purine nucleotide salvage pathway, encoded by the nuclear gene encoding deoxyguanosine kinase (DGUOK). Mutations in DGUOK lead to...
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A Descriptive Account of Victims’ Behaviour and Responses in Sexually Exploitative Interactions with Offenders
Transcripts of chat logs of sexually exploitative interactions between offenders and victims that took place via Internet communication platforms were analysed. The aim of the study was to examine victims’ behaviour and...
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Offense Processes of Online Sexual Grooming and Abuse of Children via Internet Communication Platforms
The aim of the present study was to provide an inclusive and realistic account of the offense processes of naturally occurring, sexually exploitative interactions between offenders and victims that took place via Internet...
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Offense Processes of Online Sexual Grooming and Abuse of Children via Internet Communication Platforms
The aim of the present study was to provide an inclusive and realistic account of the offense processes of naturally occurring, sexually exploitative interactions between offenders and victims that took place via Internet...
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A framework for parameter estimation and model selection from experimental data in systems biology using approximate Bayesian computation.
As modeling becomes a more widespread practice in the life sciences and biomedical sciences, researchers need reliable tools to calibrate models against ever more complex and detailed data. Here we present an approximate...
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Phenotypic convergence of Menkes and Wilson disease.
Menkes disease is an X-linked multisystem disorder with epilepsy, kinky hair, and neurodegeneration caused by mutations in the copper transporter ATP7A. Other ATP7A mutations have been linked to juvenile occipital horn syndrome...
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