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Michael E. Shy

University of Iowa
H指数:73
被引数:1.7万

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Clinical Development of Therapies for Charcot–Marie–Tooth Disease: Recommendations for Trial Design, Endpoints, and Regulatory Pathways

腓骨肌萎缩症治疗药物的临床开发:试验设计、终点指标及监管路径的建议

2026-09-120
OAAI
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

由于SORD基因突变导致的Charcot-Marie-Tooth疾病的基因型与表型谱

BRAIN
IF11.7
2025-08-013
OAAI
Comprehensive Genotype-Phenotype Analysis in POLR3-Related Disorders

POLR3相关疾病的全面基因型-表型分析

2025-07-180
OAAI
The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN)

痉挛性截瘫-卓越研究网络中心 (sp-cern)

2025-04-010
PRE
Activation of XBP1s attenuates disease severity in models of proteotoxic Charcot-Marie-Tooth type 1B

XBP1s的激活减轻了蛋白质毒性型Charcot-Marie-Tooth 1B疾病模型中的疾病严重程度。

BRAIN
IF11.7
2025-02-211
OA
Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants
BRAIN
IF11.7
2024-07-181
PRE
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity

ITPR3中的复发性错觉变体导致严重程度不同的charcot-marie-tooth脱髓鞘

BRAIN
IF11.7
2024-06-280
PRE
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations

TRPV4神经肌肉疾病注册表突出了球部,骨骼和近端肢体表现

BRAIN
IF11.7
2024-06-251
PRE
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A
2024-04-133
OA
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A
2024-04-051
PRE
Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A
2024-01-038
OA
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
BRAIN
IF11.7
2023-09-286
OAAI
Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease

Charcot-marie-tooth病儿童体重指数与疾病进展的关系

2023-08-150
OA