Ocular Weakness in Myasthenia Gravis: Changes in Affected Muscles are a Distinct Clinical Feature [0.03%]
重症肌无力的眼部弱点特征：受累肌肉的改变是一项独特的临床特征
Robert H P de Meel,Wouter F Raadsheer,Erik W van Zwet et al.
Robert H P de Meel et al.
Introduction: In this study we quantitatively describe ocular weakness patterns in myasthenia gravis (MG) to help neurologists in making the clinical diagnosis and to investigate how the current outcome measures reflect o...
Tanya Bardakjian,Steven S Scherer
Tanya Bardakjian
AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort [0.03%]
基因疗法ZOLGENSERA（onasemnogene abeparvovec）治疗SMA 1型：与前瞻性自然病程队列的比较研究
Samiah A Al-Zaidy,Stephen J Kolb,Linda Lowes et al.
Samiah A Al-Zaidy et al.
Background: Spinal muscular atrophy type 1 (SMA1) is the leading genetic cause of infant mortality for which therapies, including AVXS-101 (onasemnogene abeparvovec, Zolgensma®) gene replacement therapy, are emerging. ...
AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort [0.03%]
AVXS-101（Oasisemnogene abeparvovec）治疗SMA1：与前瞻性自然史队列的比较研究
Samiah A Al-Zaidy,Stephen J Kolb,Linda Lowes et al.
Samiah A Al-Zaidy et al.
Background: Spinal muscular atrophy type 1 (SMA1) is the leading genetic cause of infant mortality for which therapies, including AVXS-101 (onasemnogene abeparvovec, Zolgensma®) gene replacement therapy, are emerging. ...
Molecular and Clinical Characteristics of a National Cohort of Paediatric Duchenne Muscular Dystrophy Patients in Norway [0.03%]
挪威全国杜氏肌营养不良症患者的分子和临床特征
Ellen Johanne Annexstad,Toril Fagerheim,Inger Holm et al.
Ellen Johanne Annexstad et al.
Background: As new gene-related treatment options for Duchenne muscular dystrophy (DMD) are being developed, precise information about the patients' genetic diagnosis and knowledge about the diversities of natural history...
Molecular and Clinical Characteristics of a National Cohort of Paediatric Duchenne Muscular Dystrophy Patients in Norway [0.03%]
挪威全国杜氏肌营养不良症患者的分子和临床特征
Ellen Johanne Annexstad,Toril Fagerheim,Inger Holm et al.
Ellen Johanne Annexstad et al.
Background: As new gene-related treatment options for Duchenne muscular dystrophy (DMD) are being developed, precise information about the patients' genetic diagnosis and knowledge about the diversities of natural history...
A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset [0.03%]
MARS基因的新突变导致先天性起病的遗传性感觉运动神经病2U型一例
Meredith K Gillespie,Hugh J McMillan,Kristin D Kernohan et al.
Meredith K Gillespie et al.
Charcot-Marie-Tooth disease is a phenotypically and genetically heterogeneous group of disorders affecting both motor and sensory neurons. Exome sequencing has driven discovery of genes responsible for Charcot-Marie-Tooth disease with more ...
Abnormal Excitation-Contraction Coupling and Calcium Homeostasis in Myopathies and Cardiomyopathies [0.03%]
肌病和心肌病中的异常兴奋收缩耦联和钙稳态
Vanessa Schartner,Jocelyn Laporte,Johann Böhm
Vanessa Schartner
Muscle contraction requires specialized membrane structures with precise geometry and relies on the concerted interplay of electrical stimulation and Ca2+ release, known as excitation-contraction coupling (ECC). The membrane structure hosti...
Brain Structural Features of Myotonic Dystrophy Type 1 and their Relationship with CTG Repeats [0.03%]
CTG重复与DM1患者脑结构特征的关系研究
Ellen van der Plas,Mark J Hamilton,Jacob N Miller et al.
Ellen van der Plas et al.
Background: Few adequately-powered studies have systematically evaluated brain morphology in adult-onset myotonic dystrophy type 1 (DM1). Objective: ...
Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens [0.03%]
基于斑马鱼表型筛选发现治疗肌营养不良的新药
Jeffrey J Widrick,Genri Kawahara,Matthew S Alexander et al.
Jeffrey J Widrick et al.
The recent availability and development of mutant and transgenic zebrafish strains that model human muscular dystrophies has created new research opportunities for therapeutic development. Not only do these models mimic many pathological as...