Long-range PCR for the diagnosis of spinocerebellar ataxia type 10 [0.03%]
长程PCR在脊髓小脑共济失调10型的诊断中的应用研究
Tatsuaki Kurosaki,Tohru Matsuura,Kinji Ohno et al.
Tatsuaki Kurosaki et al.
Breakpoint characterization of a novel NF1 multiexonic deletion: a case showing expression of the mutated allele [0.03%]
NF1新外显子缺失突变 breakpoints表征及其突变等位基因表达检测病例报告
Francesca Orzan,Michela Stroppi,Marco Venturin et al.
Francesca Orzan et al.
Neurofibromatosis type 1 (NF1) is a common genetic disease caused by haploinsufficiency of the NF1 tumor-suppressor gene. Different pathogenetic mechanisms have been identified, with the majority (95%) causing intragenic lesions. Single or ...
Case Reports
Neurogenetics. 2008 May;9(2):95-100. DOI:10.1007/s10048-007-0115-z 2008
Towards a pathway definition of Parkinson's disease: a complex disorder with links to cancer, diabetes and inflammation [0.03%]
迈向帕金森病的途径定义：一种与癌症、糖尿病和炎症相关的复杂疾病
Linda B Moran,Manuel B Graeber
Linda B Moran
We have previously established a first whole genome transcriptomic profile of sporadic Parkinson's disease (PD). After extensive brain tissue-based validation combined with cycles of iterative data analysis and by focusing on the most compa...
Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13 [0.03%]
染色体19P13与不安腿综合征连锁的推测证据
David Kemlink,Giuseppe Plazzi,Roberto Vetrugno et al.
David Kemlink et al.
Five loci for restless legs syndrome (RLS) on chromosomes 12q, 14q, 9p, 2q, and 20p (RLS1-RLS5) have been mapped in RLS families, with a recessive in the first and autosomal-dominant mode of inheritance in the latter cases. Investigations o...
RNA interference of LRRK2-microarray expression analysis of a Parkinson's disease key player [0.03%]
LRRK2的RNA干扰和帕金森病关键因子的基因表达芯片分析
K Häbig,M Walter,S Poths et al.
K Häbig et al.
The protein leucine-rich repeat kinase 2 (LRRK2) is a key player in the pathogenesis of Parkinson's disease (PD). Mutations in the LRRK2 gene account for up to 10% of all autosomal dominant forms of familiar and for approximately 1-3% of sp...
Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis [0.03%]
在意大利Amyotrophic Lateral Sclerosis（ALS）患者的大队列中鉴定ANG基因的新突变
Cinzia Gellera,Claudia Colombrita,Nicola Ticozzi et al.
Cinzia Gellera et al.
Angiogenin (ANG) gene, coding for an angiogenic factor up-regulated by hypoxia and expressed in ventral horn motor neurons, is a novel candidate for the pathogenesis of amyotrophic lateral sclerosis (ALS). ALS is a fatal neurodegenerative d...
A neonatal encephalopathy with seizures in standard poodle dogs with a missense mutation in the canine ortholog of ATF2 [0.03%]
ATF2基因错义突变纯合标准贵宾犬的癫痫型脑病神经病理学研究
Xuhua Chen,Gary S Johnson,Robert D Schnabel et al.
Xuhua Chen et al.
Neonatal encephalopathy with seizures (NEWS) is a previously undescribed autosomal recessive disease of standard poodle puppies. Affected puppies are small and weak at birth. Many die in their first week of life. Those surviving past 1 week...
Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts [0.03%]
意大利与美国CCM患者的基因组缺失光谱在CCM基因内的差异性分析结果报告
Christina L Liquori,Silvana Penco,Judith Gault et al.
Christina L Liquori et al.
Cerebral cavernous malformations (CCMs) are vascular abnormalities of the brain that can result in hemorrhagic stroke and seizures. Familial forms of CCM are inherited in an autosomal-dominant fashion, and three CCM genes have been identifi...
Comparative Study
Neurogenetics. 2008 Feb;9(1):25-31. DOI:10.1007/s10048-007-0109-x 2008
Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families [0.03%]
日本的肌张力不全性肌肉营养不良2型：不同于高加索人的祖先起源
Tsukasa Saito,Yoshinobu Amakusa,Takashi Kimura et al.
Tsukasa Saito et al.
Myotonic dystrophy type 2 (DM2) is caused by expansion of a tetranucleotide CCTG repeat in intron 1 of the ZNF9 gene on chromosome 3q21. All studied DM2 mutations have been reported in Caucasians and share an identical haplotype, suggesting...
Case Reports
Neurogenetics. 2008 Feb;9(1):61-3. DOI:10.1007/s10048-007-0110-4 2008
Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes [0.03%]
与癫痫相关的皮层震颤的病因基因所在染色体2p11.1-q12.2区域的确切定位及候选基因排除研究
Cécile Saint-Martin,Delphine Bouteiller,Giovanni Stevanin et al.
Cécile Saint-Martin et al.