a mutation in the gene that encodes for the protein torsinA , which is thought to play a role in protein transport and degradation(passive) caused byyoung - onset dystonia
Several genes have been identifiedusually causingyoung - onset parkinsonism
Several causative genes have been identifiedusually causingyoung onset parkinsonism
Deletion slightly earlier in the gene has been describedto causeyoung onset neurodegeneration
further mutational analysis and gene dosage studies for the identification of mutations in Parkin versus other genescausemonogenic young onset Parkinsonism
Mutation of PACT , one of the core proteins of the Dicer complex also known as DYT16causesyoung - onset dystonia
to long periods of disability prior to deathleadingto long periods of disability prior to death
to higher risk of developing high myopia 7 years 3 points 8 - 12yrs 2 pointsleadingto higher risk of developing high myopia 7 years 3 points 8 - 12yrs 2 points
from greater exposure to a putative neurotoxinmight resultfrom greater exposure to a putative neurotoxin
music and playing the violin when Mr. Rozsa was 5 years oldcomposingmusic and playing the violin when Mr. Rozsa was 5 years old
music and playing the violin when he was 5 years oldcomposingmusic and playing the violin when he was 5 years old
the evaluation for an underlying genetic syndrome despite apparent absence of positive family history in these two patientspromptedthe evaluation for an underlying genetic syndrome despite apparent absence of positive family history in these two patients
up “ burning centres ” which were often nothing more than a PC on a table in a small roomto setup “ burning centres ” which were often nothing more than a PC on a table in a small room
in watercolors as a diversionpaintingin watercolors as a diversion
mythological themes and subjectspaintingmythological themes and subjects