Inherited dystonias: clinical features and molecular pathways
… Studies of genetic forms of dystonia are also illuminating the developmental dependence of
… dystonias (Clarimon et al., 2005, Clarimon et al., 2007). Study of inherited dystonia will likely …
… dystonias (Clarimon et al., 2005, Clarimon et al., 2007). Study of inherited dystonia will likely …
Molecular pathways in dystonia
DC Bragg, IA Armata, FC Nery, XO Breakefield… - Neurobiology of …, 2011 - Elsevier
… The hereditary dystonias comprise a set of … different molecular etiologies, many of which
have yet to be elucidated. Here we discuss recent advances in three forms of hereditary dystonia…
have yet to be elucidated. Here we discuss recent advances in three forms of hereditary dystonia…
Emerging common molecular pathways for primary dystonia
… genetic forms of dystonia, and highlight cellular pathways that are important to the genesis of
dystonia… Most of this information comes from study of monogenic primary dystonias and the …
dystonia… Most of this information comes from study of monogenic primary dystonias and the …
Emerging and converging molecular mechanisms in dystonia
P Gonzalez-Latapi, N Marotta, NE Mencacci - Journal of Neural …, 2021 - Springer
… dystonias and will aid in the development of more effective therapeutic strategies by targeting
these convergent molecular pathways… the genetic causes underlying monogenic dystonias …
these convergent molecular pathways… the genetic causes underlying monogenic dystonias …
Dystonia genes and their biological pathways
… For example, some inherited disorders have unrelated molecular pathways, yet they
converge on a specific cellular process, such as mitochondrial function. Alternatively, they may …
converge on a specific cellular process, such as mitochondrial function. Alternatively, they may …
Update on the genetics of dystonia
… For a detailed overview on long-known genetic forms of complex dystonia, we would like
to … thus may play a role in signal transduction, an important pathway involved in dystonia [15]. …
to … thus may play a role in signal transduction, an important pathway involved in dystonia [15]. …
Genetics in dystonia
C Klein - Parkinsonism & related disorders, 2014 - Elsevier
… genetic features of isolated and combined forms of dystonia. In accordance with Table 2,
confirmed genetic forms of dystonia … Combined dystonias will be subdivided by temporal pattern …
confirmed genetic forms of dystonia … Combined dystonias will be subdivided by temporal pattern …
Genetics and pathogenesis of dystonia
… our understanding of the molecular pathogenesis of many inherited dystonia forms (see the
… molecular pathways implicated in dystonia. For instance, transcription factors regulate other …
… molecular pathways implicated in dystonia. For instance, transcription factors regulate other …
Genetics of dystonia: what's known? What's new? What's next?
… of the known dystonia proteins may be linked to shared pathways and thus complete the …
Rather than providing a detailed, systematic review of all known genetic forms of dystonia (for …
Rather than providing a detailed, systematic review of all known genetic forms of dystonia (for …
Dystonia genes and their biological pathways
… pathways that drive dystonic expressions in humans, as supported by studies on genetic
findings in individuals with dystonia … of dystonia, GCH1-linked dopa-responsive dystonia in 1994…
findings in individuals with dystonia … of dystonia, GCH1-linked dopa-responsive dystonia in 1994…
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