A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient [0.03%]
FGD4新突变导致的一种印度CMT4H患者的轻度表型
Vikas Nishadham,Rashmi Santhoshkumar,Saraswati Nashi et al.
Vikas Nishadham et al.
Charcot-Marie-Tooth disease 4H(CMT4H) is an autosomal recessive demyelinating form of CMT caused by FGD4/FRABIN mutations. CMT4H is characterized by early onset and slowly progressing motor and sensory deficits in the distal extremities, al...
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life [0.03%]
理解GSD5（McArdle病）：个体如何在日常生活中应对代谢缺陷
Walaa Karazi,Jacqueline Coppers,Daphne Maas et al.
Walaa Karazi et al.
Background: Glycogen storage disease type 5 (GSD) is an autosomal recessive inherited metabolic myopathy caused by a deficiency of the enzyme muscle glycogen phosphorylase. Individuals with GSD5 experience physical activi...
Risdiplam Real World Data - Looking Beyond Motor Neurons and Motor Function Measures [0.03%]
risdiplam真实世界数据研究——超越运动神经元和运动功能指标观测
Barbara Sitas,Mirea Hancevic,Katarina Bilic et al.
Barbara Sitas et al.
Background: Risdiplam is an orally administered treatment for spinal muscular atrophy which leads to an improvement in motor function as measured by functional motor scales compared with placebo. Although risdiplam has be...
Monitoring Nusinersen Treatment Effects in Children with Spinal Muscular Atrophy with Quantitative Muscle MRI [0.03%]
定量肌肉MRI在脊髓性肌萎缩儿童中监测nusinersen治疗效果中的作用
Louise A M Otto,M Froeling,Ruben P A van Eijk et al.
Louise A M Otto et al.
Background: Spinal muscular atrophy (SMA) is caused by deficiency of survival motor neuron (SMN) protein. Intrathecal nusinersen treatment increases SMN protein in motor neurons and has been shown to improve motor functio...
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort [0.03%]
婴儿型庞培病进行酶替代治疗的长期预后——德国-奥地利队列数据
Charlotte Pfrimmer,Martin Smitka,Nicole Muschol et al.
Charlotte Pfrimmer et al.
Background: Enzyme replacement therapy (ERT) with recombinant human alglucosidase alfa (rhGAA) was approved in Europe in 2006. Nevertheless, data on the long-term outcome of infantile onset Pompe disease (IOPD) patients a...
Paula R Clemens,Heather Gordish-Dressman,Gabriela Niizawa et al.
Paula R Clemens et al.
Background: Becker muscular dystrophy is an X-linked, genetic disorder causing progressive degeneration of skeletal and cardiac muscle, with a widely variable phenotype. ...
Moving Beyond the 2018 Minimum International Care Considerations for Osteoporosis Management in Duchenne Muscular Dystrophy (DMD): Meeting Report from the 3rd International Muscle-Bone Interactions Meeting 7th and 14th November 2022 [0.03%]
超越杜氏肌营养不良症(DMD)骨质疏松管理的国际最低护理标准(2018年):第3届国际肌肉-骨骼相互作用会议报告(2022年11月7日和14日)
Kim Phung,Nicola Crabtree,Anne M Connolly et al.
Kim Phung et al.
Quantifying Variability in Motor Function in Duchenne Muscular Dystrophy: UK Centiles for the NorthStar Ambulatory Assessment, 10 m Walk Run Velocity and Rise from Floor Velocity in GC Treated Boys [0.03%]
量化Duchenne肌营养不良运动功能的变异性：GC治疗男孩人群的NorthStar步行评估、10米行走跑速度和站起速度百分位数分布（英国）
Georgia Stimpson,Deborah Ridout,Amy Wolfe et al.
Georgia Stimpson et al.
Background Boys with Duchenne Muscular Dystrophy (DMD) display heterogeneous motor function trajectory in clinics, which represents a significant obstacle to monitoring. Obj...
Factors Associated with Respiratory Health and Function in Duchenne Muscular Dystrophy: A Systematic Review and Evidence Grading [0.03%]
杜氏肌营养不良呼吸健康的的影响因素及功能系统评价和证据分级
E Landfeldt,A Aleman,S Abner et al.
E Landfeldt et al.
Background: Despite advances in the medical management of the disease, respiratory involvement remains a significant source of morbidity and mortality in children and adults with Duchenne muscular dystrophy (DMD). ...
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data [0.03%]
CHOP-INTEND量表能否用于婴儿出生后几个月内的结果评估？其在临床试验和真实世界数据中的应用含义
Costanza Cutrona,Roberto de Sanctis,Giorgia Coratti et al.
Costanza Cutrona et al.
Background: The CHOP-INTEND is an established outcome measure used to assess motor function in young and weak SMA patients previously validated in type I infants older than 3 months. ...
Observational Study
Journal of neuromuscular diseases. 2024;11(1):85-90. DOI:10.3233/JND-221644 2024