De Novo MFN2 p.Arg95Met in Severe Charcot-Marie-Tooth Disease Type 2A [0.03%]
新发MFN2 p.Arg95Met突变导致严重型遗传性感觉神经病2型A症患者发病
Hsi-Yen Lee,Wen-Ling Cheng,Shin-Hung Pan et al.
Hsi-Yen Lee et al.
Background and aims: Mitofusin 2 (MFN2)-related Charcot-Marie-Tooth disease type 2A (CMT2A) is often associated with early onset, severe progressive weakness, distal wasting, and reduced motor and sensory response amplitu...
Autonomic Nervous System Phenotyping Across Chronic Demyelinating Peripheral Neuropathies: A Comparative Study [0.03%]
慢性脱髓鞘外周神经病的自主神经系统表型特征比较研究
Bogdan Bjelica,Teodora Todorovic,Ivo Bozovic et al.
Bogdan Bjelica et al.
Background and aims: This study aimed to systematically phenotype autonomic nervous system (ANS) involvement in patients with chronic inflammatory demyelinating polyneuropathy (CIDP), monoclonal gammopathy of undetermined...
Circulating Inflammation-Related Proteins Linked to Corneal Neuroimmune Measures, Neuropathy Deficits, and Symptoms in Type 2 Diabetes [0.03%]
与2型糖尿病神经病理性缺陷和症状相关的循环炎症相关蛋白与角膜神经免疫测量的联系
Georgios Ponirakis,Ibrahim Al-Janahi,Einas Elgassim et al.
Georgios Ponirakis et al.
Objective: Systemic inflammation plays a key role in diabetic peripheral neuropathy (DPN). This exploratory study investigated circulating inflammation-related proteins associated with corneal neuroimmune measures, neurop...
A Quantitative Assessment of Upper Limb Motor Function Across Disease Stages in Hereditary Transthyretin Amyloidosis [0.03%]
定量评估遗传性转甲状腺素蛋白淀粉样变病各期上肢运动功能
Mehrnaz Hamedani,Valeria Prada,Sara Massucco et al.
Mehrnaz Hamedani et al.
Background and aims: Hereditary transthyretin amyloidosis (ATTRv) is a multisystemic disease where early neuropathy signs are challenging to detect conventionally. This study aimed to evaluate hand motor performance in AT...
Julian Theuriet,Shams Ribault,Fanny Fontaine et al.
Julian Theuriet et al.
Background and aims: Biallelic variants in COQ7 have been associated with inherited neuropathy. COQ7 encodes a mitochondrial protein directly involved in coenzyme Q10 (CoQ10) biosynthesis. ...
Health Equality and Socioeconomic Impact of Hereditary Sensory Neuropathy Type 1 (HSN1) in the UK [0.03%]
英国遗传性感觉神经病1型(HSN1)的健康公平性和经济社会影响
Caroline Kramarz,Lodina Recica,Jasper Morrow et al.
Caroline Kramarz et al.
Background and aims: Hereditary Sensory Neuropathy Type 1 (HSN1) is a rare autosomal dominant neuropathy caused by variants in the SPTLC1 and SPTLC2 genes, resulting in sensory loss, motor weakness, chronic ulceration, an...
Significance of Phrenic Nerve Conduction Study in the Electrodiagnosis of Guillain Barré Syndrome [0.03%]
膈神经传导检查在吉兰-巴雷综合征电诊断中的意义
Volkan Tasdemir,Nermin Gorkem Sirin,Sezin Alpaydın Baslo et al.
Volkan Tasdemir et al.
Background and aims: To determine the role of phrenic nerve conduction studies (NCS) in identifying subtypes of Guillain-Barré syndrome (GBS) and to investigate the correlations between phrenic NCS and clinical and respi...
Associations Between Diabetes Distress, Diabetic Peripheral Neuropathy and Neuropathic Pain in People With Type 2 Diabetes-The Maastricht Study [0.03%]
2型糖尿病患者的糖尿病痛苦、糖尿病外周神经病和神经痛之间的关系——马斯特里赫特研究
Alice Cardon,Bryan Cleal,Mette Due-Christensen et al.
Alice Cardon et al.
Background and aims: Diabetic peripheral neuropathy (DPN) and neuropathic pain are associated with various psychosocial factors, but the effect of diabetes distress remains underexplored. This study examines the associati...
A Novel Role of the Perineurium: Evidence for an Essential Function for Macrophage Maintenance and Increase in Isolated Peripheral Nerves [0.03%]
施万细胞外膜在周围神经中的新作用：对巨噬细胞维持和增加的实验证据
Miriam Geldermann,Dennis Klein,Eva Maria Weiß et al.
Miriam Geldermann et al.
Background and aims: It is an established view that the perineurium surrounding peripheral nerves fulfills pivotal barrier functions to protect nerve fibers from noxious agents of the nerve environment. Here we want to in...
Clinical Diabetic Peripheral Neuropathy: Can It Be Reversed? Arguments for and Against From a NEUROdiab Debate [0.03%]
糖尿病外周神经病的临床逆转——来自NEUROdiab研讨会的正反方观点
Gordon Sloan,Shazli Azmi,Stephanie Eid et al.
Gordon Sloan et al.
Diabetic peripheral neuropathy (DPN) is a prevalent and disabling complication of diabetes, yet whether established clinical DPN is reversible remains debated. At the 35th Annual Meeting of NEUROdiab, a formal debate examined arguments 'for...