Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy [0.03%]
基于智能手机的脊髓性肌萎缩症成人患者的移动性和手动灵巧度评估
Eduardo Arteaga-Bracho,Gautier Cosne,Christoph Kanzler et al.
Eduardo Arteaga-Bracho et al.
Background: More responsive, reliable, and clinically valid endpoints of disability are essential to reduce size, duration, and burden of clinical trials in adult persons with spinal muscular atrophy (aPwSMA). ...
Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit [0.03%]
CHRNE基因c.1327delG框移突变导致乙酰胆碱受体ε亚基的先天性重症肌无力综合征患者的临床表型研究
Kristina Kastreva,Teodora Chamova,Stanislava Blagoeva et al.
Kristina Kastreva et al.
Background: Congenital myasthenic syndromes (CMS) are a group of rare but often treatable inherited disorders of neuromuscular transmission characterized by fatigable skeletal muscle weakness. In this paper we present the...
Nociceptive Pain in Patients with Neuromuscular Disorders - A Cross-Sectional Clinical Study [0.03%]
神经肌肉疾病患者的 nociceptive 疼痛——一项横断面临床研究
Elena Sagerer,Corinna Wirner-Piotrowski,Marko Mijic et al.
Elena Sagerer et al.
Background: Muscle pain is a common symptom in patients with neuromuscular disorders (NMD) and accounts for severely reduced quality of life. OBJECTIVE: This clinical study aimed to observe possible differences in pain pr...
Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India [0.03%]
印度单中心先天性肌病患者队列的表型与基因型相关性研究
Ganaraja Valakunja Harikrishna,Hansashree Padmanabha,Kiran Polavarapu et al.
Ganaraja Valakunja Harikrishna et al.
Background: Congenital myopathies (CMs) are a diverse group of inherited muscle disorders with broad genotypic and phenotypic heterogeneity. While the literature on CM is available from European countries, comprehensive d...
A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA) [0.03%]
脊髓性肌萎缩症(SMA)呼吸、吞咽、进食和言语功能自然史的系统文献回顾
Yasmina Martí,Valerie Aponte Ribero,Sarah Batson et al.
Yasmina Martí et al.
Background: Respiratory and bulbar dysfunctions (including swallowing, feeding, and speech functions) are key symptoms of spinal muscular atrophy (SMA), especially in its most severe forms. Demonstrating the long-term eff...
Induced muscle and liver absence of Gne in postnatal mice does not result in structural or functional muscle impairment [0.03%]
诱导产后小鼠肌肉和肝脏中GNE的缺失不会导致结构或功能上的肌肉损伤
Avi Harazi,Lena Yakovlev,Nili Ilouz et al.
Avi Harazi et al.
Background: GNE Myopathy is a unique recessive neuromuscular disorder characterized by adult-onset, slowly progressive distal and proximal muscle weakness, caused by mutations in the GNE gene which is a key enzyme in the ...
HAP-PEE: A Danish National Study of Challenges Related to Urinating When Away from Home in Women with Neuromuscular Diseases, Impact on Activity and Participation and Prevalence of Lower Urinary Tract Symptoms [0.03%]
丹麦女性神经肌肉疾病患者外出排尿困难的国家研究：对参与活动的影响及下尿路症状的患病率
Ulla Werlauff,Charlotte Handberg,Bente Kristensen et al.
Ulla Werlauff et al.
Background: Little is known about the challenges faced by women with a neuromuscular disease (NMD) when having to go to the toilet in other places than home; a topic that is highly important for participation and bladder ...
ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment [0.03%]
一种用于神经肌肉疾病患者的步行辅助装置ExoBand的首次定量评估研究
Claudio Semplicini,Michela Agostini,Cinzia Andrigo et al.
Claudio Semplicini et al.
Objective: Exoband (by Moveo, Padova, Italy) functions as a walking brace, comprising a belt and two leg loops connected by a mechanism that stores energy during the initial phase of the gait cycle and releases it in the ...
Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders [0.03%]
丝氨酸 palmitoyltransferase(SPT)相关神经退行性和神经发育障碍
Payam Mohassel,Meher Abdullah,Florian S Eichler et al.
Payam Mohassel et al.
Motor neuron diseases and peripheral neuropathies are heterogeneous groups of neurodegenerative disorders that manifest with distinct symptoms due to progressive dysfunction or loss of specific neuronal subpopulations during different stage...
Relationship Between Hand Strength and Function in Duchenne Muscular Dystrophy and Spinal Muscular Atrophy: Implications for Clinical Trials [0.03%]
杜氏肌营养不良和脊髓性肌肉萎缩症中手部握力与功能的关系：对临床试验的意义
Valérie Decostre,Marie De Antonio,Laurent Servais et al.
Valérie Decostre et al.
Background: Measurement of muscle strength and motor function is recommended in clinical trials of neuromuscular diseases, but the loss of hand strength at which motor function is impacted is not documented. ...