Search for Additional Pathogenic Variants to Explain Variation in PMP22-Related Neuropathies [0.03%]
寻找额外的致病突变以解释PMP22相关神经病变的变异程度
Barbara W van Paassen,Camiel Verhamme,Fred van Ruissen et al.
Barbara W van Paassen et al.
Background and objectives: The aim of this study was to investigate whether the considerable phenotypic variation in Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies...
Parkinson Disease SNCA Risk Variants Are Associated With Higher Asymmetric Putamen Dopaminergic Dysfunction [0.03%]
帕金森病风险变异SNCA与多巴胺能功能不对称性增强的 putamen 相关
Saud Alhusaini,Gabriel Dayanim,Mohamed Kandil et al.
Saud Alhusaini et al.
Objectives: The aim of this study was to investigate the endophenotypic potential of striatal dopamine transporter (DAT) uptake in carriers of Parkinson disease (PD)-associated SNCA genetic risk variants. ...
Kathleen J Sweadner,Elena Arystarkhova,Ihtsham U Haq et al.
Kathleen J Sweadner et al.
Dominant pathogenic variants in ATP1A3 can occur anywhere in the coding sequence and can cause a wide range of clinical presentations. A practical problem is that sequencing services use one of 3 different mRNA transcripts with different le...
Disentangling the Causal Effects of Education and Participation Bias on Alzheimer Disease Using Mendelian Randomization [0.03%]
使用孟德尔随机化法解开教育和参与偏倚对阿尔茨海默病的因果影响关系
Aadrita Chatterjee,Clémence Cavaillès,Neil M Davies et al.
Aadrita Chatterjee et al.
Background and objectives: People with university degrees have a lower incidence of Alzheimer disease (AD). However, the relationship between education and AD could be due to selection, collider, or ascertainment biases, ...
Angela M Martin Rios,Liliane H Gibbs,Karolina M Stepien et al.
Angela M Martin Rios et al.
Background and objectives: β-mannosidosis is an ultra-rare lysosomal storage disorder caused by a deficiency of β-mannosidase, which catalyzes the last step of glycoprotein degradation. Owing to the limited number of re...
Novel ATXN10 Repeat Motif Patterns in Peruvian Families Modify Disease Onset [0.03%]
秘鲁家系中新的ATXN10重复模体模式可改变疾病发作年龄
Kamilla Sedov,Carla Manrique-Enciso,Madison James Yang et al.
Kamilla Sedov et al.
Objectives: Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant disorder caused by intronic expansions of pentanucleotide repeats in the ATXN10 gene. While various repeat motifs have been described, emerging e...
Motor Function in Limb-Girdle Muscular Dystrophy R1/2A: Validation of Clinical Outcome Assessments for Clinical Care and Trial Readiness [0.03%]
limb-girdle肌肉营养不良症R1/2A的肢体功能：临床结果评估的验证以实现临床护理和试验就绪性
Meredith K James,Megan A Iammarino,Natalie F Reash et al.
Meredith K James et al.
Background and objectives: Limb-girdle muscular dystrophy (LGMD) type R1/2A, calpain-3-related, is a rare, autosomal recessive disorder caused by pathogenic variants in the CAPN3 gene. LGMDR1/2A causes progressive weaknes...
Hyesung Kim,Yumi Yamamoto,Young Ree Kim et al.
Hyesung Kim et al.
Background and objectives: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary small vessel disease caused by variants in the NOTCH3 gene. The extracellular...
Risk of Cardiac Disease in a Population-Based Cohort of Myotonic Dystrophy Type 1 and Type 2 in the United States [0.03%]
美国人群基于的肌迟缓性肌肉营养不良I型和II型患者的心脏病风险研究
Nicholas E Johnson,Vinay Bhandaru,Jennifer G Andrews et al.
Nicholas E Johnson et al.
Background and objectives: Myotonic dystrophy type 1 and type 2 (DM1/DM2) are multisystemic disorders that may affect heart function in addition to the progressive skeletal muscle weakness and myotonia that occur. There a...
Jun-Hui Yuan,Yujiro Higuchi,Masahiro Ando et al.
Jun-Hui Yuan et al.
Background and objectives: Autosomal recessive spastic ataxia of Charlevoix-Saguenay, caused by biallelic SACS variants, is classically characterized by spasticity, ataxia, and peripheral neuropathy. The aim of this study...