G C Ebers
G C Ebers
Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation [0.03%]
瑞典一个大家族的额颞痴呆由原颗粒素无功能突变引起
Lena Skoglund,RoseMarie Brundin,Tommie Olofsson et al.
Lena Skoglund et al.
Mutations in the progranulin (PGRN) gene have recently been identified in families with frontotemporal lobar degeneration and ubiquitin-positive brain inclusions linked to chromosome 17q21. We have previously described a Swedish family disp...
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome) [0.03%]
染色体微阵列定位表明BSX和Neurogranin在11q末端缺失综合征（Jacobsen 综合征）的神经认知和行为缺陷中起作用
C D Coldren,Z Lai,P Shragg et al.
C D Coldren et al.
We performed a prospective analysis on 14 11q- patients to determine the relationship between the degree of cognitive impairment and relative deletion size. Seventeen measures of cognitive function were assessed. All nine patients with a de...
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia [0.03%]
非近亲遗传性痉挛性截瘫病例中CYP7B1的分析
Rebecca Schüle,Elisabeth Brandt,Kathrin N Karle et al.
Rebecca Schüle et al.
Hereditary spastic paraplegia (HSP) is a neurodegenerative condition defined clinically by lower limb spasticity and weakness. Homozygous mutations in CYP7B1 have been identified in several consanguineous families that represented HSP type ...
A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis [0.03%]
MFSD8基因新突变致晚婴童期神经脑苷脂病
E Stogmann,S El Tawil,J Wagenstaller et al.
E Stogmann et al.
Neuronal ceroid lipofuscinoses (NCL) are lysosomal storage disorders and constitute the most common group of progressive neurodegenerative diseases in childhood. Most NCLs are inherited in a recessive manner and are clinically characterised...
Expression analysis of genes lying in the NF1 microdeletion interval points to four candidate modifiers for neurofibroma formation [0.03%]
NF1微缺失区段内基因的表达分析确定了4种神经纤维瘤形成的可能修饰基因
B Bartelt-Kirbach,M Wuepping,M Dodrimont-Lattke et al.
B Bartelt-Kirbach et al.
The hallmark of neurofibromatosis type 1 (NF1) are multiple dermal neurofibromas. They show high inter- and intrafamilial variability for which the influence of modifying genes is discussed. NF1 patients presenting microdeletions spanning N...
Risk for multiple sclerosis in relatives and spouses of patients diagnosed with autoimmune and related conditions [0.03%]
自身免疫性疾病及相关疾病患者亲属和配偶的多发性硬化症风险
Kari Hemminki,Xinjun Li,Jan Sundquist et al.
Kari Hemminki et al.
In the era of complex disease genetics, the consideration of familial risks is important in the assessment of the likely success of these studies. In the present article, we study familial risks for multiple sclerosis (MS) among parents and...
Assessment of Alzheimer's disease case-control associations using family-based methods [0.03%]
利用基于家庭的方法评估阿尔茨海默病病例对照组的关联性
Brit-Maren M Schjeide,Matthew B McQueen,Kristina Mullin et al.
Brit-Maren M Schjeide et al.
The genetics of Alzheimer's disease (AD) is heterogeneous and remains only ill-defined. We have recently created a freely available and continuously updated online database (AlzGene; http://www.alzgene.org ) for which we collect all publish...
Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta [0.03%]
阿尔茨海默病风险变异与脑脊液淀粉样蛋白β关联性显示
John S K Kauwe,Jun Wang,Kevin Mayo et al.
John S K Kauwe et al.
The use of quantitative endophenotypes in genetic studies may provide greater power, allowing for the use of powerful statistical methods and a biological model for the effects of the disease-associated genetic variation. Cerebrospinal flui...
Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP) [0.03%]
ALS2基因第2号染色体携带剪接接受端突变（IVS9-2A>T）的母系单亲二倍体和部分同源二倍体会导致婴儿期起病的进行性痉挛性瘫痪(IASHP)
Thilo Herzfeld,Nicole Wolf,Pia Winter et al.
Thilo Herzfeld et al.
Infantile-onset ascending spastic paralysis (OMIM #607225) is a rare autosomal recessive early onset motor neuron disease caused by mutations in the gene ALS2. We report on a splice acceptor site mutation in intron 9 of ALS2 (IVS9-2A>T) in ...
Case Reports
Neurogenetics. 2009 Feb;10(1):59-64. DOI:10.1007/s10048-008-0148-y 2009