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Cristina Baldoli

IRCCS San Raffaele Scientific Institute
H指数:20
被引数:4,038

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Neuroimaging abnormalities and genotype–phenotype correlations in Noonan syndrome: a multicenter cohort study

诺恩综合征的神经影像学异常和基因型-表型相关性:一项多中心队列研究

2026-08-270
OAAI
Repeatability and reproducibility of joint T1-T2 transient-state relaxometry across multiple vendors and implementations at 3T in phantom and human brain

多厂商和多实现方案下3T场强下关节T1-T2瞬态弛豫度测量的重复性与再现性研究(在体模和人类脑部)

2025-09-160
PREAI
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy

ARSA变体与认知能力下降及异染性脑白质营养不良中运动功能的长期维持相关

2025-08-020
OA
Data-Driven Motion Correction of 11C-Methionine PET Images on a Cohort of Pediatric Patients With Brain Tumor in a PET/MRI Study

在PET/MRI研究中对儿童脑肿瘤患者队列的 <sup>11</sup>C-蛋氨酸PET图像进行数据驱动的运动校正

2025-05-080
PRE
Atidarsagene autotemcel (autologous hematopoietic stem cell gene therapy) preserves cognition, language, and speech and slows brain demyelination and atrophy in early-onset metachromatic leukodystrophy
2025-02-010
PRE
Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome
2024-05-012
PRE
Long-term clinical outcomes of atidarsagene autotemcel (autologous hematopoietic stem cell gene therapy [HSC-GT] for metachromatic leukodystrophy) with up to 11 years follow-up
2023-02-010
PRE
The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies
2022-09-019
PRE
First-in-human phase I/II clinical trial of hematopoietic stem and progenitor cell gene therapy for Hurler syndrome: Favorable safety profile and extensive metabolic correction
2022-02-011
OAAI
Evidence of Treatment Benefits in Patients with Mucopolysaccharidosis Type I-Hurler in Long-term Follow-up Using a New Magnetic Resonance Imaging Scoring System
2022-01-014
PRE
Emapalumab treatment in an ADA-SCID patient with refractory hemophagocytic lymphohistiocytosis-related graft failure and disseminated bacillus Calmette-Guerin infection
2020-08-1318
OAAI
Lentiviral hematopoietic stem and progenitor cell gene therapy (HSPC-GT) for metachromatic leukodystrophy (MLD): Clinical outcomes from 33 patients
2020-02-0110
PREAI
Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients
2017-01-1140
OAAI
Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial

慢病毒造血干细胞基因治疗早发性异染性脑白质营养不良: 一项非随机、开放标签、1/2期试验的特别分析

LANCET
IF88.5
2016-07-01394
PREAI