Prospective Cohort Study of Nusinersen Treatment in Adults with Spinal Muscular Atrophy [0.03%]
成人脊髓性肌萎缩症患者诺西那生钠治疗的前瞻性队列研究
Crystal Jing Jing Yeo,Sarah D Simeone,Elise L Townsend et al.
Crystal Jing Jing Yeo et al.
Background: The impact of nusinersen therapy on outcomes in adults with Spinal Muscular Atrophy (SMA) remains uncertain. Objective: To ...
Blood Flow to the Spleen is Altered in a Mouse Model of Spinal Muscular Atrophy [0.03%]
脊髓性肌萎缩小鼠模型中脾脏血流改变
Marc-Olivier Deguise,Ariane Beauvais,Bernard L Schneider et al.
Marc-Olivier Deguise et al.
Spinal muscular atrophy (SMA) is a neuromuscular disorder affecting young children. While pre-clinical models of SMA show small spleens, the same is not true in humans. Here, we show by doppler ultrasonography decreased splenic blood flow i...
Corinne G C Horlings,Jakob Rath,Josef Finsterer et al.
Corinne G C Horlings et al.
Objectives: laboratory tests for work-up of hereditary and acquired neuropathies of peripheral nerves are frequently uncritically utilized. This overview focuses on the most common laboratory tests and investigations need...
Chronic Progressive External Ophthalmoplegia due to a Rare de novo m.12334G>A MT-TL2 Mitochondrial DNA Variant1 [0.03%]
罕见的脱氧核糖核酸变异导致的慢性进行性外部眼肌麻痹
Luke O&#x;Donnell,Emma L Blakely,Karen Baty et al.
Luke O&#x;Donnell et al.
We describe a patient with chronic progressive external ophthalmoplegia (CPEO) due to a rare mitochondrial genetic variant. Muscle biopsy revealed numerous cytochrome c oxidase (COX)-deficient fibres, prompting sequencing of the entire mito...
Myasthenia Gravis Impairment Index: Sensitivity for Change in Generalized Muscle Weakness [0.03%]
重症肌无力障碍指数：全身肌肉无力变化的敏感性
Robert H P de Meel,Carolina Barnett,Vera Bril et al.
Robert H P de Meel et al.
Introduction: The recently developed Myasthenia Gravis Impairment Index (MGII) is a promising measure as it has less floor effects and a higher relative efficiency in its responsiveness to treatment effect compared to oth...
Marco Savarese,Salla Välipakka,Mridul Johari et al.
Marco Savarese et al.
Human genes have a variable length. Those having a coding sequence of extraordinary length and a high number of exons were almost impossible to sequence using the traditional Sanger-based gene-by-gene approach. High-throughput sequencing ha...
Dysphagia and Dysarthria in Children with Neuromuscular Diseases, a Prevalence Study [0.03%]
一项关于神经肌肉疾病儿童吞咽困难和构音障碍的患病率研究
Mieke Kooi-van Es,Corrie E Erasmus,Bert J M de Swart et al.
Mieke Kooi-van Es et al.
Background: Dysphagia and dysarthria are frequently described in pediatric neuromuscular diseases (pNMD). The consequences can be substantial: failure to thrive, malnutrition, aspiration pneumonia, or communication proble...
Multicenter Study
Journal of neuromuscular diseases. 2020;7(3):287-295. DOI:10.3233/JND-190436 2020
Niall P Keegan
Niall P Keegan
The DMD gene is the largest in the human genome, with a total intron content exceeding 2.2Mb. In the decades since DMD was discovered there have been numerous reported cases of pseudoexons (PEs) arising in the mature DMD transcripts of some...
Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden? [0.03%]
新生儿筛查诊断的携带4个SMN2拷贝的脊髓性肌萎缩症婴儿——机会还是负担？
Wolfgang Müller-Felber,Katharina Vill,Oliver Schwartz et al.
Wolfgang Müller-Felber et al.
Although the value of newborn screening (NBS) for early detection and treatment opportunity in SMA patients is generally accepted, there is still an ongoing discussion about the best strategy in children with 4 and more copies of the SMN2 g...
Scoliosis Surgery Significantly Impacts Motor Abilities in Higher-functioning Individuals with Spinal Muscular Atrophy1 [0.03%]
脊髓肌肉萎缩症患者手术对运动能力的影响
Sally Dunaway Young,Jacqueline Montes,Rachel Salazar et al.
Sally Dunaway Young et al.
Background: Weakness affects motor performance and causes skeletal deformities in spinal muscular atrophy (SMA). Scoliosis surgery decision-making is based on curve progression, pulmonary function, and skeletal maturity. ...
Observational Study
Journal of neuromuscular diseases. 2020;7(2):183-192. DOI:10.3233/JND-190462 2020