Molecular and genetic characteristics of patients from the National Registry of Duchenne/Becker Muscular Dystrophy in the Russian Federation: Pilot analysis [0.03%]
俄罗斯全境杜氏/贝克尔型肌营养不良注册中心患者的分子及基因特征：一项初步分析
Peter A Sparber,Elena V Zinina,Olga Shchagina et al.
Peter A Sparber et al.
Background: There is currently no reliable epidemiological data in the Russian Federation nor data on patient routing and evaluation of the efficacy and feasibility of diagnostic and therapeutic approaches to patients wit...
Pathogenic mechanisms and clinical insights into B3GALNT2-related alpha-dystroglycanopathies [0.03%]
B3GALNT2相关α- dystroglyganopathy的发病机制和临床见解
Xiaona Fu,Hui Wang,Wenjia Chai et al.
Xiaona Fu et al.
BackgroundB3GALNT2 mutations cause α-dystroglycanopathy (α-DGP), a rare condition characterized by muscular dystrophy, brain malformations, and developmental delay. However, its pathogenic mechanisms remain poorly understood. To date, lim...
DCTN1-associated neurological disorder with symptoms similar to spinal bulbar muscular atrophy [0.03%]
与脊髓球麻痹症症状相似的DCTN1相关神经病
Byeonghyeon Lee,Seong Tae Cho,Ryul Kim et al.
Byeonghyeon Lee et al.
BackgroundDynactin 1 (DCTN1) mutations are associated with diverse neurological disorders, including distal hereditary motor neuropathy, Perry syndrome, and amyotrophic lateral sclerosis. This study focused on a family with symptoms resembl...
REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France [0.03%]
法国脊髓性肌萎缩症患者的全国观察登记研究（SMA France REGISTRE）
Lamiae Grimaldi,Rocio Garcia-Uzquiano,Marta Gomez-Garcia de la Banda et al.
Lamiae Grimaldi et al.
BackgroundSpinal muscular atrophy (SMA) is a severe neurodegenerative disease affecting children. Three innovative disease-modifying therapies (DMTs)-nusinersen, risdiplam, and onasemnogene abeparvovec-are available for treatment.ObjectiveT...
Review: Limb-girdle muscular dystrophies (LGMDs) existing registries and natural history studies: Where do we stand? [0.03%]
肌营养不良症(LGMDs)现有的登记处和自然史研究：我们目前处于什么位置？
Elena Faedo,Iman Tahiri,Christophe Alimi et al.
Elena Faedo et al.
Introduction: Limb-Girdle Muscular Dystrophies (LGMDs) are heterogeneous inherited disorders with no cure, including 29 recessive (LGMDR) and 5 dominant forms (LGMDD), characterized by proximal muscle weakness. Finding a ...
On the road to blood biomarkers in myasthenia gravis (MG): Beyond clinical scales [0.03%]
肌无力(MG)血症生物标志物之路：超出临床量表
Amol K Bhandage,Yu-Fang Huang,Tanel Punga et al.
Amol K Bhandage et al.
Myasthenia Gravis (MG) is a heterogeneous neuromuscular autoimmune disorder characterized by fluctuating skeletal muscle weakness and a highly variable disease course. MG subgroups are defined by antibody type, age at onset, clinical phenot...
Expanding the spectrum of TNNC2 variants in neonatal hypotonia - a family report of a homozygous loss of function [0.03%]
TNNC2变异在新生儿低张力中的谱系扩展-一个功能丧失型同工纯合子的家庭报告
Anthony Maino,Marie Chevallier,Diane Giovannini et al.
Anthony Maino et al.
The TNNC2 gene is crucial for skeletal muscle function, and pathogenic variants have been linked to congenital myopathies characterized by hypotonia, muscle weakness, and respiratory insufficiency. To date, TNNC2-related myopathies have bee...
Telemedicine and remote monitoring in neuromuscular diseases: Challenges and opportunities [0.03%]
神经肌肉疾病远程医疗和远程监控的挑战与机遇
Francesca Torri,Erika Schirinzi,Lorenzo Fontanelli et al.
Francesca Torri et al.
Background: Telemedicine, the application of those information technologies to remotely provide health services either for synchronously catching or asynchronous monitoring patient medical data, has shown a growing and wi...
Modelling mitochondrial diseases in neurons In Vitro: A systematic review [0.03%]
体外神经元线粒体疾病的模型建设系统的回顾性研究
Mariana Zarate-Mendez,Nihal A Basha,Oliver Podmanicky et al.
Mariana Zarate-Mendez et al.
Mitochondrial diseases, characterized by disruptions in cellular energy production, manifest diverse clinical phenotypes despite a shared molecular aetiology. Of note is the frequent involvement of the brain in these pathologies. Given the ...
Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy [0.03%]
成人发病远端肌病以手部受累为主作为plectinopathy的罕见表型
Laura Llansó,David Reyes-Leiva,Alba Segarra-Casas et al.
Laura Llansó et al.
Classic phenotypes of plectinopathies include epidermolysis bullosa simplex and muscular dystrophy with proximal distribution, associated or not with skin blistering. However, in recent years, patients manifesting new muscular phenotypes in...