Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation [0.03%]
由于环孢利ん蛋白p.r419x突变导致的大电导钙激活钾通道在非综合症性精神发育迟滞中的表达失调
Joseph J Higgins,Jin Hao,Barry E Kosofsky et al.
Joseph J Higgins et al.
A nonsense mutation (R419X) in the human cereblon gene [mutation (mut) CRBN] causes a mild type of autosomal recessive nonsyndromal mental retardation (ARNSMR). CRBN, a cytosolic protein, regulates the assembly and neuronal surface expressi...
Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series [0.03%]
意大利病例中 frontaltemporal lobe变性中的凋亡诱导因子基因变异频率很低
Barbara Borroni,Silvana Archetti,Antonella Alberici et al.
Barbara Borroni et al.
Frontotemporal lobar degeneration (FTLD) recognises high familial incidence, with up to 50% of patients reported to have a family history of similar dementia. It has been reported that mutations within progranulin (PGRN) gene are a major ca...
Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency [0.03%]
高效液相色谱法检测SLC6A8缺乏的EURO-MRX家系中低水平体细胞和胚细胞镶嵌型突变
Ofir T Betsalel,Jiddeke M van de Kamp,Cristina Martínez-Muñoz et al.
Ofir T Betsalel et al.
Creatine transporter deficiency is an X-linked mental retardation disorder caused by mutations in the creatine transporter gene, SLC6A8. In a European Mental Retardation Consortium panel of 66 patients, we identified a male with mental reta...
Case Reports
Neurogenetics. 2008 Jul;9(3):183-90. DOI:10.1007/s10048-008-0125-5 2008
Molecular evidence of founder effects of fatal familial insomnia through SNP haplotypes around the D178N mutation [0.03%]
致命家族失眠症D178N突变周围的单核苷酸多态性单倍型的分子奠基者效应证据
Ana B Rodríguez-Martínez,Miguel A Alfonso-Sánchez,José A Peña et al.
Ana B Rodríguez-Martínez et al.
This work presents a detailed investigation of the genomic region surrounding the PRNP gene in a sample of patients diagnosed with fatal familial insomnia (FFI) from several European countries, notably Spain. The main focus of the study was...
Further examination of the candidate genes in chromosome 12p13 locus for late-onset Alzheimer disease [0.03%]
12号染色体短臂1区3带与晚发性阿尔茨海默病的候选基因进一步研究
Joseph H Lee,Rong Cheng,Ekaterina Rogaeva et al.
Joseph H Lee et al.
A broad region on chromosome 12p13 has been intensely investigated for novel genetic variants associated with Alzheimer disease (AD). We examined this region with 23 microsatellite markers using 124 North European (NE) families and 209 Cari...
Differential expression of alpha-synuclein, parkin, and synphilin-1 isoforms in Lewy body disease [0.03%]
路易体病中α-突触核蛋白、公园病和synphilin-1的各种表达形式的差异性
Katrin Beyer,Montserrat Domingo-Sàbat,Jordi Humbert et al.
Katrin Beyer et al.
Alpha-synuclein, parkin, and synphilin-1 are proteins mainly involved in the pathogenesis of Lewy body (LB) diseases. mRNAs of all three undergo alternative splicing, so that the existence of various isoforms has been described. Since incre...
Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population [0.03%]
NTRK1新突变会引起遗传性感觉和自主神经病IV型：在土耳其人群中发现该病的始祖突变
Beyhan Tüysüz,Fatih Bayrakli,Michael L DiLuna et al.
Beyhan Tüysüz et al.
Hereditary sensory and autonomic neuropathy type IV (HSAN IV), or congenital insensitivity to pain with anhidrosis, is an autosomal recessive disorder characterized by insensitivity to noxious stimuli, anhidrosis from deinnervated sweat gla...
Case Reports
Neurogenetics. 2008 May;9(2):119-25. DOI:10.1007/s10048-008-0121-9 2008
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France? [0.03%]
法国早期发病扭转性肌张力不全与TOR1A基因相关的情况是否像预期的那样普遍？
M Y Frédéric,F Clot,L Cif et al.
M Y Frédéric et al.
Early onset torsion dystonia are rare movement disorders. Molecular defect is known for only a subgroup, consisting of a unique and recurrent mutation in the TOR1A gene. We undertook a nationwide census of French TOR1A-mutation carriers and...
Mar Matarin,Javier Simon-Sanchez,Hon-Chung Fung et al.
Mar Matarin et al.
Technological advances in molecular genetics allow rapid and sensitive identification of genomic copy number variants (CNVs). This, in turn, has sparked interest in the function such variation may play in disease. While a role for copy numb...
Multicenter Study
Neurogenetics. 2008 May;9(2):101-8. DOI:10.1007/s10048-008-0119-3 2008
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families [0.03%]
染色体2p11.1-q12.2的始祖单体型支持良性成人遗传性肌阵挛性癫痫(BAFME)的意大利系谱的家族聚集性
Francesca Madia,Pasquale Striano,Carlo Di Bonaventura et al.
Francesca Madia et al.
Benign adult familial myoclonic epilepsy (BAFME or FAME) is an autosomal dominant condition, characterized by shivering-like tremors of cortical origin, myoclonus, and epilepsy. Linkage to chromosomes 2p11.1-q12.2 and 8q23.1-q24.11 has been...