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Lucio Giordano

University of Brescia
H指数:38
被引数:4,832

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Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology

伴有失神发作和单基因病因的癫痫的临床和遗传景观

2025-10-250
OAAI
Correction: Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses

更正:奥普仑(open-label)评价口服海藻糖在神经元蜡样脂褐质沉积症患者中的应用

2025-10-150
PRE
Fourteen New Pediatric Cases of Shapiro Syndrome

十四例新的希普森综合征儿科病例

2025-07-170
OA
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children
2024-03-082
OAAI
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing

通过外显子组测序解剖眼睑肌阵挛性癫痫谱系的遗传学

2023-12-235
OAAI
Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study
2023-04-010
OAAI
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy
BRAIN
IF11.7
2022-07-0411
OAAI
Epilepsy Course and Developmental Trajectories in STXBP1-DEE
2022-06-0125
OAAI
PURA-Related Developmental and Epileptic Encephalopathy

紫癜相关性发育性和癫痫性脑病

2021-12-0126
OAAI
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
BRAIN
IF11.7
2021-08-2577
OA
Lung recruitment before surfactant administration in extremely preterm neonates with respiratory distress syndrome (IN-REC-SUR-E): a randomised, unblinded, controlled trial

在患有呼吸窘迫综合征的极早产新生儿中使用表面活性剂之前的肺募集 (in-rec-sur-e): 一项随机,非盲,对照试验

2021-02-0145
PREAI
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants
2020-12-0127
OAAI
Mowat-Wilson syndrome: growth charts
2020-06-1514
OAAI
The spectrum of intermediate SCN8A-related epilepsy
2019-04-1075
OAAI