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Marika Pane

centro clinico nemo pediatrico
H指数:69
被引数:1.3万

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Transition of care from pediatric to adult age in persons with Down Syndrome: a comprehensive evaluation via the InterRAI suite of mental health instruments

唐氏综合征患者从儿科到成人年龄段的过渡照护:基于InterRAI心理健康评估工具包的综合评价

2026-08-240
OA
Vertebral fractures and muscle function in glucocorticoid-treated individuals with Duchenne muscular dystrophy: a cohort study

糖皮质激素治疗 Duchenne 肌营养不良患者中的椎体骨折与肌肉功能:一项队列研究

2026-04-170
OAAI
Cross-cultural adaptation of the Italian version of the “Child and Youth Mental Health Instrument for Developmental Disabilities” (I-ChYMH-DD)

“Child and Youth Mental Health Instrument for Developmental Disabilities”(I-ChYMH-DD)意大利语版本的跨文化适应

2026-03-140
OAAI
Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report

COL6A1、COL6A2和COL6A3致病性变异在呈现VI型胶原蛋白相关肌病的大型意大利队列中的景观分析:一项全国性报告

2025-10-080
OAAI
Pediatric acute respiratory distress syndrome in children with type I - spinal muscular atrophy: a 12-year case series

I型-脊髓性肌萎缩症儿童中的儿科急性呼吸窘迫综合征:一项12年病例系列研究

2025-09-290
OA
Upper limb progression in Duchenne muscular dystrophy: Insights from a 36-month longitudinal study using the PUL 20

杜氏肌营养不良症上肢进展:基于36个月纵向研究使用PUL 20的见解

2025-09-180
OA
Expressive language and social communication abilities in children with spinal muscular atrophy type 1

脊髓性肌萎缩症1型患儿的表达性语言和社会沟通能力

2025-09-050
OAAI
Development of the “SMA NNE,” a short neonatal neurological examination for newborns with spinal muscular atrophy

“SMA NNE”的研制,一种用于患有脊髓性肌萎缩症新生儿的简短神经学检查方法

2025-08-190
OAAI
Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi-Cold-Induced Sweating Syndrome Type 1

罕见遗传病是否表现出特定的表型?对Crisponi-Cold-Induced Sweating Syndrome Type 1相关发声特征的综合描述

2025-08-170
OA
Cost-effectiveness of treatments for presymptomatic newborn patients with spinal muscular atrophy and two or three copies of the survival motor neuron 2 gene in Italy

意大利对携带2个或3个存活运动神经元2基因拷贝的脊髓性肌萎缩症无症状新生儿患者的治疗方案成本效益分析

2025-06-260
OA
Patients on treatment with risdiplam in Italy: challenges in the interpretation of the real-world data

意大利接受risdiplam治疗的患者的真实世界数据解读挑战

2025-03-281
PRE
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey

意大利杜氏肌营养不良症的患病率: 一项全国性调查

2024-12-160
PRE
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity

贝克肌营养不良的自然史:DMD基因突变预测临床严重程度

BRAIN
IF11.7
2024-11-050
PRE
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients

将D4Z4甲基化分析整合到临床实践中: 通过4qA/4qA和4qA/4qB患者的不同阈值改善FSHD分子诊断

2024-10-221
OAAI
Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1-Results from a Retrospective Analysis in Italy

1型强直性肌营养不良儿童报告的睡眠障碍与行为问题之间的关联-意大利回顾性分析的结果

2024-09-140
OAAI
Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy

nusinersen治疗的脊髓性肌萎缩症患者的蛋白质组学分析和机器学习

2024-09-101
OAAI