机译:ITPR1抑制域中的新功能突变导致纺丝大脑共济失调与改变的CA2 +信号模式
Temple St Childrens Univ Hosp Clin Genet Dublin 1 Ireland;
RIKEN Brain Sci Inst BSI Dev Neurobiol Lab Saitama Japan;
RIKEN Brain Sci Inst BSI Dev Neurobiol Lab Saitama Japan;
Temple St Childrens Univ Hosp Dept Neurol Dublin 1 Ireland;
Adelaide &
Meath Hosp Incorporating Dept Neurol Dublin Ireland;
Univ Coll Dublin UCD Acad Ctr Rare Dis Sch Med &
Med Sci Dublin 4 Ireland;
RIKEN Brain Sci Inst BSI Dev Neurobiol Lab Saitama Japan;
Univ Coll Dublin UCD Acad Ctr Rare Dis Sch Med &
Med Sci Dublin 4 Ireland;
Cavan Gen Hosp Dept Paediat &
Community Child Hlth Cavan Ireland;
Our Ladys Childrens Hosp Crumlin Dept Clin Genet Mol Genet Lab Dublin 12 Ireland;
RIKEN Brain Sci Inst BSI Dev Neurobiol Lab Saitama Japan;
Temple St Childrens Univ Hosp Clin Genet Dublin 1 Ireland;
Calcium signaling; Inositol 1; 4; 5-trisphosphate receptor 1; ITPR1; Non-progressive spinocerebellar ataxia; Spinocerebellar ataxia 29; Gain-of-function; Whole exome sequencing;
机译:ITPR1抑制域中的新功能突变导致纺丝大脑共济失调与改变的CA2 +信号模式
机译:ITPR1的错义突变导致常染色体显性先天性非进行性小脑共济失调
机译:14型脊髓小脑性共济失调的PKCγ突变影响C1域可及性和激酶活性,导致MAPK信号异常。
机译:一种改进的频域干扰抑制器,用于高阶BOC信号的DBT处理
机译:Kv3.3突变与脊髓小脑共济失调13型的不同功能作用。
机译:ITPR1基因突变引起的脊髓小脑共济失调29型:病例系列和对此新兴先天性共济失调的回顾
机译:14型脊髓小脑性共济失调的PKCγ突变影响C1域的可及性和激酶活性,导致MAPK信号异常