Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration [0.03%]
近期导致额颞叶变性常见的威尔士MAPT剪切突变的起源和传播
Roberto Colombo,Daniela Tavian,Matthew C Baker et al.
Roberto Colombo et al.
IVS10+16C>T is the most prevalent mutation in the microtubule-associated protein tau gene (MAPT) causing frontotemporal lobar degeneration (FTLD) in populations of British descent. A highly conserved 17q21 haplotype was identified in IVS10+...
A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs [0.03%]
一种新型的MFN2突变导致CMT2A并伴有上运动神经元体征
S Ajroud-Driss,F Fecto,K Ajroud et al.
S Ajroud-Driss et al.
Case Reports
Neurogenetics. 2009 Oct;10(4):359-61. DOI:10.1007/s10048-009-0188-y 2009
Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease [0.03%]
MALIAN家系NHLRC1基因新突变及其对Lafor体病严重表型的影响
M Traoré,G Landouré,W Motley et al.
M Traoré et al.
We studied a Malian family with parental consanguinity and two of eight siblings affected with late-childhood-onset progressive myoclonus epilepsy and cognitive decline, consistent with the diagnosis of Lafora disease. Genetic analysis show...
Lrrk2 R1441G-related Parkinson's disease: evidence of a common founding event in the seventh century in Northern Spain [0.03%]
西班牙北部7世纪与帕金森病相关的Lrrk2 R1441G共同始发事件的证据
Ignacio F Mata,Carolyn M Hutter,María C González-Fernández et al.
Ignacio F Mata et al.
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene together represent the most common genetic determinant of Parkinson's disease (PD) identified to date. The vast majority of patients with LRRK2-related PD reported in the literature...
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models [0.03%]
MED25变异体Ala335Val是CMT2B2发病原因的鉴定：分子数据，SH3识别模体的功能研究以及CMT1A动物模型中野生型MED25和PMP22 RNA水平的相关性研究
Alejandro Leal,Kathrin Huehne,Finn Bauer et al.
Alejandro Leal et al.
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous disorder. All mendelian patterns of inheritance have been described. We identified a homozygous p.A335V mutation in the MED25 gene in an extended Costa Rican fa...
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models [0.03%]
MED25变异体Ala335Val是CMT2B2病因的研究：分子数据，SH3识别模体的功能研究以及CMT1A动物模型中野生型MED25和PMP22 RNA水平的相关性
Alejandro Leal,Kathrin Huehne,Finn Bauer et al.
Alejandro Leal et al.
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous disorder. All mendelian patterns of inheritance have been described. We identified a homozygous p.A335V mutation in the MED25 gene in an extended Costa Rican fa...
Ashkenazi Parkinson's disease patients with the LRRK2 G2019S mutation share a common founder dating from the second to fifth centuries [0.03%]
阿什肯纳吉帕金森病患者的LRRK2 G2019S突变源自公元2至5世纪的一位共同祖先
Anat Bar-Shira,Carolyn M Hutter,Nir Giladi et al.
Anat Bar-Shira et al.
The LRRK2 G2019S mutation is a major genetic determinant of Parkinson's disease (PD) across the world that occurs at an elevated frequency in Ashkenazi Jews. We determined the LRRK2 haplotypes in 77 G2019S carriers, mostly Ashkenazi Jews, a...
Shelli R Kesler,Charles Schwartz,Roger E Stevenson et al.
Shelli R Kesler et al.
Snyder-Robinson syndrome (SRS) is a form of X-linked mental retardation resulting from mutations in spermine synthase (SMS), which impact neurodevelopment and cognitive outcome. We obtained cerebral, cerebellum, hippocampus, and red nucleus...
Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging [0.03%]
MFSD8突变引起的神经元蜡样脂质色素沉积病：一种常见的主题浮出水面
M A Aldahmesh,Z N Al-Hassnan,M Aldosari et al.
M A Aldahmesh et al.
Neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal neurodegenerative disorders that have in common the characteristic accumulation of abnormal storage material. Old clinical classification based on age of onset is now being revi...
Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer's disease [0.03%]
延长的纯合片段鉴定与晚发性阿尔茨海默病相关的新型候选基因
M A Nalls,R J Guerreiro,J Simon-Sanchez et al.
M A Nalls et al.
Large tracts of extended homozygosity are more prevalent in outbred populations than previously thought. With the advent of high-density genotyping platforms, regions of extended homozygosity can be accurately located allowing for the ident...