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G

Guilhem Solé

hopital universitaire bicetre - aphp
H指数:29
被引数:4,000

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Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study

成人迟发性庞贝病患者死亡原因及合并症:一项法国庞贝注册登记研究

2025-10-270
OAAI
Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR)

罕见神经肌肉疾病患者的诊断困境与诊断延迟:来自法国罕见神经肌肉疾病国家网络(FILNEMUS)和法国国家罕见病数据库(BNDMR)的患者特征洞察

2025-09-010
OAAI
Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy

全国范围内103例SH3TC2基因相关脱髓鞘周围神经病的表型和基因型特征分析

2025-07-310
OA
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance
2024-12-260
PRE
Spinal muscular atrophy is also a disorder of spermatogenesis
2024-12-200
OAAI
MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort
2024-10-240
OAAI
Safety of immune checkpoint inhibitor rechallenge after severe immune-related adverse events: a retrospective analysis

严重免疫相关不良事件后免疫检查点抑制剂再激发的安全性: 回顾性分析

2024-07-080
OAAI
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis
BRAIN
IF11.7
2024-05-021
OAAI
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments

脊髓性肌萎缩症成人患者治疗中的多学科团队讨论会:创新疗法的真实世界观察研究

2024-01-244
OAAI
Titin copy number variations associated with dominant inherited phenotypes
2023-11-070
OA
Characteristics of Patients With Late-Onset Pompe Disease in France
2023-08-293
OA
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy
2023-08-016
OAAI