M
Michael G. Hanna
H-index:95
Citation Count:4.2万
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Late-Onset Tay–Sachs Disease With SMALED-Like Muscle MRI Pattern Despite a Distinct Clinical Phenotype
迟发性Tay–Sachs病具有SMALED样肌肉MRI模式,尽管临床表型独特
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy
COXFA4L2上调在COXFA4相关 Leigh样脑病中维持残余细胞色素c氧化酶活性
Nature Communications
IF15.7
Mavodelpar in patients with primary mitochondrial myopathy: a phase 1 trial
Mavodelpar在原发性线粒体肌病患者中的应用:一项1期临床试验
Scientific Reports
IF3.9
Phenotypic characterization of dominantly inherited distal nebulin myopathy
显性遗传性远端 Nebulin 肌营养不良的表型特征
Intersection of Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy Syndrome: ASAH1 Gene
脊髓性肌萎缩症与进行性肌阵挛癫痫综合征的交集:ASAH1基因
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
COX18基因的双等位基因变异会导致一种主要表现为周围神经病的线粒体疾病。
BRAIN
IF11.7
Long term safety and efficacy of lamotrigine in patients with non-dystrophic myotonia, a single-centre prospective study.
长期安全性及疗效:拉莫三嗪在非强直性肌强直患者中的单中心前瞻性研究。
Introducing an Essential 7-Part Artificial Intelligence Review Series: A Guided Journey Into the Future of Pathology and Medicine
介绍一个重要的7部分人工智能评论系列: 引导病理学和医学的未来之旅
MODERN PATHOLOGY
IF5.5
MRC Centre for Neuromuscular Diseases Biobank London: its role in the advancement of rare and neuromuscular diseases research
MRC Centre for Neuromuscular Diseases生物样本库,伦敦:其在罕见病和神经肌肉疾病研究进展中的作用
Twelve-month change in quantitative MRI calf muscle fat fraction in CMT1A predicts clinical change over 4 years
CMT1A中定量MRI小腿肌肉脂肪分数的12个月变化可预测4年内的临床变化

