A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis [0.03%]
全外显子组测序评估乔布特综合征病例系列及其光学基因组图谱在诊断中的应用价值
Aslihan Kiraz,Murat Erdogan,Burhan Balta et al.
Aslihan Kiraz et al.
Background: Joubert syndrome (JS) is a rare autosomal recessive genetic disease characterized by molar tooth sign, hypotonia during infancy, developmental delay, and/or intellectual disability. Over 40 genes have been ass...
A recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish population [0.03%]
土耳其人群中导致糖基化障碍的ALG11基因c.953A>C(p. Gln318Pro)变异的遗传效应研究
Pinar Ozkan Kart,Oguzhan Demir,Ayberk Turkyilmaz et al.
Pinar Ozkan Kart et al.
Congenital disorders of glycosylation type 1p, one of the N-glycosylation defects, Asparagine-dependent glycosylation 11 (ALG11-CDG, #OMIM: 613,666), is a very rare type of autosomal recessive glycosylation defect that causes multisystem in...
Case Reports
Neurogenetics. 2025 May 27;26(1):46. DOI:10.1007/s10048-025-00826-7 2025
A heterozygous variation of PINK1 is potentially associated with essential tremor in a Chinese family [0.03%]
PINK1杂合变异与一个中国家族的特发性震颤可能有关
Bin Wang,Bin Wei,Likui Lu et al.
Bin Wang et al.
Essential tremor (ET) is a common movement disorder, but its pathophysiologic mechanisms remain elusive. So far, a few genes/loci have been identified, but because of genetic heterogeneity, the genetic etiology of ET is still one of the mai...
Nayab Ahsan,Arsalan Ahmad,Shahnawaz Hussain et al.
Nayab Ahsan et al.
Epilepsy is a group of neurological conditions characterized by epileptic seizures, which are episodes that may vary from brief and nearly undetectable to long periods of vigorous shaking. Due to high rates of close family marriages (consan...
A novel FBXW11 variant in a patient with neurodevelopmental, jaw, eye, and digital syndrome [0.03%]
神经发育、下颌、眼和 digits 畸形综合征患者中的新型 FBXW11变异
Anna Maznina,Daria Molodtsova-Zolotukhina,Nina Andreeva et al.
Anna Maznina et al.
Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) is a rare autosomal dominant condition that has demonstrated diverse phenotypes. This is the second case report published on this condition, covering the disease history of an 8 ye...
Case Reports
Neurogenetics. 2025 Apr 3;26(1):41. DOI:10.1007/s10048-025-00822-x 2025
Genetic variants associated with idiopathic Parkinson's disease in Latin America: A systematic review [0.03%]
拉丁美洲特发性帕金森病的遗传变异的系统评价
Felipe Duarte-Zambrano,David Felipe Alfonso-Cedeño,Jorge A Barrero et al.
Felipe Duarte-Zambrano et al.
Idiopathic Parkinson's disease (PD) constitutes a complex trait influenced by genetic, environmental, and lifestyle factors, with an estimated heritability of nearly 30%. However, a large proportion of the heritable variation linked to PD r...
A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024 [0.03%]
2014年至2024年期间巴基斯坦人群通过外显子组测序诊断的遗传性神经疾病系统综述更新报告
Riaz Ahmad,Muhammad Naeem
Riaz Ahmad
Hereditary neurological disorders (HNDs) are a group of heterogeneous disorders characterized by significant genetic and clinical variability. HNDs are caused by dysfunction of the central or peripheral nervous system due to aberrant electr...
The association of SCN1A polymorphisms with epilepsy and drug resistance: a systematic review and meta-analysis [0.03%]
关于SCN1A多态性与癫痫及药物抵抗的关联：系统评价和meta分析
Ida Mohammadi,Shahryar Rajai Firouzabadi,Aryan Aarabi et al.
Ida Mohammadi et al.
Epilepsy is one of the most common neurological afflictions worldwide, with one-third of patients exhibiting resistance to treatment. It has been speculated that the polymorphisms of the sodium channel alpha subunit 1 (SCN1A) gene are assoc...
Multi-target approach to Alzheimer's disease prevention and treatment: antioxidant, anti-inflammatory, and amyloid- modulating mechanisms [0.03%]
阿尔茨海默病预防和治疗的多靶点方法：抗氧化，抗炎和 amyloid- 调控机制
Kashif Abbas,Mohd Mustafa,Mudassir Alam et al.
Kashif Abbas et al.
Alzheimer's disease (AD) is characterized by amyloid-β (Aβ) plaque accumulation, neurofibrillary tangles, neuroinflammation, and progressive cognitive decline, posing a significant global health challenge. Growing evidence suggests that d...
Mitochondrial DNA variants revealed by whole exome sequencing: from screening to diagnosis and follow-up [0.03%]
全外显子测序揭示的线粒体DNA变异：从筛查到诊断和随访
Sebastian Skoczylas,Tomasz Płoszaj,Karolina Gadzalska et al.
Sebastian Skoczylas et al.
Mutations in mitochondrial DNA play a crucial role in several diseases, but interpreting the clinical significance of mitochondrial DNA variants is challenging due to heteroplasmy, age-related loss of variants and evolving phenotypes. The a...