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C

Cara O'Neill

cure sanfilippo foundation

H指数:8

被引数:228

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Modelling synaptic dysfunction in childhood dementia using human iPSC-derived cortical networks

利用人诱导多能干细胞衍生的皮层网络模拟儿童痴呆中的突触功能障碍

Nature Communications

IF15.7

2026-04-070

OAAI

Data priorities of an international community to support research and improve Sanfilippo syndrome outcomes

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Targeted therapeutic benefits of anakinra for sleep, gastrointestinal, and behavioral symptoms in Sanfilippo syndrome: A post hoc analysis in symptom-specific subgroups

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Community consensus for Heparan sulfate as a biomarker to support accelerated approval in Neuronopathic Mucopolysaccharidoses

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-08-011

OAAI

Anakinra in Sanfilippo syndrome: a phase 1/2 trial (Jul, 10.1038/s41591-024-03079-3, 2024)

NATURE MEDICINE

IF50

2024-07-290

OAAI

Anakinra in Sanfilippo syndrome: a phase 1/2 trial

NATURE MEDICINE

IF50

2024-06-213

OAAI

New blood-based biomarkers for Sanfilippo syndrome

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-010

PRE

A phase I/II clinical trial of JR-441 for treatment of Sanfilippo syndrome type A (MPS IIIA)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-010

PRE

Impact of anakinra on disordered movement in Sanfilippo syndrome

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-010

PRE

Generalized pairwise comparisons of prioritized outcomes are a powerful and patient-centric analysis of multi-domain scores

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2023-10-122

OAAI

Development of consensus guidelines for the clinical care of individuals with Sanfilippo syndrome

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-02-010

PRE

Sanfilippo syndrome: consensus guidelines for clinical care

Sanfilippo综合征: 临床护理共识指南

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2022-10-2723

OAAI

Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2022-02-227

OAAI

An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-02-0115

OAAI

Phase I/II clinical trial of anakinra in Sanfilippo syndrome: Outcomes from 8 weeks of a palliative treatment

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-02-011

PRE

Issues of COVID-19-related distance learning for children with neuronopathic mucopolysaccharidoses

MOLECULAR GENETICS AND METABOLISM

IF3.5

2021-09-013

OAAI

Open-label clinical trial of anakinra in mucopolysaccharidosis type III: Interim analysis

MOLECULAR GENETICS AND METABOLISM

IF3.5

2021-02-011

PREAI

Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment

NEUROLOGY AND THERAPY

IF4.8

2020-12-0226

OAAI

Parent prioritization of meaningful treatment targets for Sanfilippo syndrome

MOLECULAR GENETICS AND METABOLISM

IF3.5

2020-02-014

PREAI

PROVIDE: Video-based patient-reported outcomes for Sanfilippo syndrome: A new and innovative approach to record and measure disease post-gene therapy

MOLECULAR GENETICS AND METABOLISM

IF3.5

2020-02-010

PREAI