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Mouse Gnal transcripts and transcriptomics in isolated dystonia.

Kumar(A),Saeirad(S),LeDoux(MS) Res Sq 2025-08-29

...GNAL mutations are one established cause of isolated dystonia and hyposmia. Homozygous GNAL mutations have been reported...

Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the...

Carecchio(Miryam),Panteghini(Celeste),Real... Parkinsonism Relat Disord 2016-11-01

Mutations in GNAL have been associated with adult-onset cranio-cervical dystonia, but a limited number of cases have bee...

Clinical and genetic features of cervical dystonia in a large multicenter coh...

LeDoux(Mark S),Vemula(Satya R),Xiao(Jianfe... Neurol Genet 2016-04-28

...GNAL, THAP1, and Exon 5 of TOR1A.,The majority of participants were Caucasian (95%) and female (75%). The mean age at on...

Dysregulation of brain olfactory and taste receptors in AD, PSP and CJD, and ...

Ansoleaga(B),Garcia-Esparcia(P),Llorens(F)... Neuroscience 2015-11-03

...gnaling adenylyl cyclase 3 (ADYLC3) and olfactory G protein (Gnal) in the cerebral cortex of the mouse. Dysregulation of...

Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset iso...

Zech(Michael),Lam(Daniel D),Francescatto(L... Am J Hum Genet 2015-08-17

...GNAL have been found in some cases, the molecular mechanisms underlying isolated dystonia are largely unknown. In additi...

Isolated and combined dystonia syndromes - an update on new genes and their p...

Balint(B),Bhatia(K P) Eur J Neurol 2015-09-28

...GNAL and CIZ1, have been discovered for isolated dystonia, but they are probably not a common cause of classic cervical ...

Screening of mutations in GNAL in sporadic dystonia patients.

Dufke(Claudia),Sturm(Marc),Schroeder(Chris... Mov Disord 2015-04-20

GNAL mutations have been shown to cause adult-onset isolated dystonia, a disabling movement disorder characterized by in...

Inherited isolated dystonia: clinical genetics and gene function.

Dauer(William) Neurotherapeutics 2015-07-06

...GNAL).

Integrated analysis of mutation data from various sources identifies key gene...

Zhang(Yuannv),Qiu(Zhaoping),Wei(Lin),Tang(... PLoS One 2015-02-21

...gnaling related pathways, (d) metabolic related pathways, and (e) circadian related pathways. Network analysis further r...

Recent advances in the genetics of dystonia.

Xiao(Jianfeng),Vemula(Satya R),LeDoux(Mark S) Curr Neurol Neurosci Rep 2015-02-21

...GNAL (DYT25), and TUBB4A (DYT4). Despite these advances, major gaps remain in identifying the genetic origins for most c...

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