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Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Ami...

Saunders-Pullman(Rachel),Fuchs(Tania),San ... Mov Disord 2014-12-19

...GNAL) mutations and genotype-phenotype comparisons were performed for 76 individuals of Amish-Mennonites heritage with p...

Mutations in GNAL: a novel cause of craniocervical dystonia.

Kumar(Kishore R),Lohmann(Katja),Masuho(Iku... JAMA Neurol 2014-06-09

...GNAL gene have recently been shown to cause primary torsion dystonia. The GNAL-encoded protein (Gαolf) is important for ...

Genetics in dystonia.

Klein(Christine) Parkinsonism Relat Disord 2014-07-11

...GNAL/DYT25. In the combined forms, dystonia is accompanied by parkinsonism (GCH1/DYT5a; TH/DYT5b; ATP1A3/DYT12; TAF1/DYT...

The genetics of dystonia: new twists in an old tale.

Charlesworth(Gavin),Bhatia(Kailash P),Wood... Brain 2013-08-29

...GNAL), PRRT2 has been identified as the cause of paroxysmal kinesigenic dystonia and other genes, such as SLC30A10 and A...

Mutations in GNAL cause primary torsion dystonia.

Fuchs(Tania),Saunders-Pullman(Rachel),Masu... Nat Genet 2013-02-22

...GNAL, with a nonsense mutation encoding p.Ser293* resulting in a premature stop codon in one family and a missense mutat...

Genetic issues in the diagnosis of dystonias.

Petrucci(Simona),Valente(Enza Maria) Front Neurol 2013-04-19

...GNAL) and recessive (DYT2; DYT17) forms. However most sporadic cases, especially those with late-onset, are likely multi...

Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

Vemula(Satya R),Puschmann(Andreas),Xiao(Ji... Hum Mol Genet 2013-12-31

...GNAL missense mutation (c.682G>T, p.V228F) in an African-American pedigree with clinical phenotypes that include cervica...

[Influence of nagE and manX knockout with red homologous recombination on the...

Chen(Xin),Liu(Long),Li(Jianghua),Liu(Jie),... Sheng Wu Gong Cheng Xue Bao 2013-09-26

...gnal, respectively. The maximal GlcN and GlcNAc concentration of E. coli-glms-gnal-delta nagE-delta manX reached 4.82 g/...

Gα(olf) mutation allows parsing the role of cAMP-dependent and extracellular ...

Alcacer(Cristina),Santini(Emanuela),Valjen... J Neurosci 2012-06-25

...gnaling, including cAMP-dependent protein kinase A (PKA) and extracellular signal-regulated kinase (ERK), two responses ...

Polyclonal antibodies against the TLA1 protein also recognize with high speci...

Mitra(Mautusi),Dewez(David),García-Cerdán(... Photosynth Res 2012-08-06

...GNAL in the C-terminus of the two proteins, constituting a high antigenicity "GNAL" domain. Antibodies raised against th...

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