机译:脆弱的X相关震颤/共济失调综合征:线粒体DNA拷贝数的区域降低涉及临床表现
Biochemistry and Molecular Genetics DepartmentHospital Clinic of BarcelonaBarcelona Spain;
Neurobiology UnitInstitut d'Investigacions Biomèdiques de Barcelona Consejo Superior de;
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)Barcelona Spain;
Department of Clinical GeneticsErasmus Medical CenterRotterdam The Netherlands;
Biochemistry and Molecular Genetics DepartmentHospital Clinic of BarcelonaBarcelona Spain;
Neurology DepartmentUniversitat Autònoma de Barcelona Hospital de la Santa Creu i Sant;
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)Barcelona Spain;
Biochemistry and Molecular Genetics DepartmentHospital Clinic of BarcelonaBarcelona Spain;
Biochemistry and Molecular Genetics DepartmentHospital Clinic of BarcelonaBarcelona Spain;
ddPCR; FMR1 premutation; FXTAS; mtDNA copy number; neurodegeneration;
机译:脆弱的X相关震颤/共济失调综合征:线粒体DNA拷贝数的区域降低涉及临床表现
机译:迟发性震颤和共济失调综合征:脆弱的X相关震颤/共济失调综合征和神经影像学发现。
机译:易碎的X相关震颤/共济失调综合征的易碎X预突变携带者中具有情绪症状的痴呆:多奈哌齐和文拉法辛的临床干预。
机译:共济失调不是颈部受伤的唯一临床表现
机译:独特的步态,平衡和震颤概况与帕金森病和基本震颤的脆弱的X相关震颤/共济失调综合征区分
机译:共济失调是脆性X相关震颤/共济失调综合征(FXTAS)的主要表现:病例系列
机译:脆弱的X相关的震颤/共济失调综合征:线粒体DNA拷贝数的区域降低涉及临床表现