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Cristiane Araújo Martins Moreno

Universidade de São Paulo
H指数:15
被引数:1,337

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Clinical and Genetic Features of MUSK-Related Congenital Myasthenic Syndrome: A Case Series and a Proposal for Clinical Classification

MUSK相关先天性肌无力综合征的临床与遗传特征:一例病例系列及临床分类建议

2026-09-220
OAAI
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

破解密码: sarcoglycanopathies 中基因型-表型相关模型

2026-03-190
OAAI
Neurological symptoms and physical exam findings 6–11 months post-COVID-19: a cohort study

神经症状和体格检查结果:COVID-19后6-11个月的队列研究

2026-01-020
OAAI
Thrombotic microangiopathy following gene therapy for 5q-spinal muscular atrophy

基因疗法治疗5q-脊髓性肌萎缩症后的血栓性微血管病

2025-06-190
PRE
Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort

TK2-deficiency的临床和分子谱: 一个大型巴西队列

2025-03-150
OAAI
Hypoglycemia in Patients With LAMA2-CMD
2023-06-012
PRE
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings
2023-02-031
OA
Clinical Manifestation of Nebulin-Associated Nemaline Myopathy
2023-02-019
OAAI
The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates
2022-07-283
PRE
GGPS1-associated muscular dystrophy with and without hearing loss
2022-07-238
OA
Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology
2019-12-1834
OAAI
A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS
2019-04-0223
OAAI
Mutations in INPPSK, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
2017-03-0154
OAAI
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PRE