Robert J. Hopkin

university of cincinnati

H指数:57

被引数:1.2万

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Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103-150 characters)

法布里病女性患者：与普通人群相比的器官受累和临床结局

Orphanet Journal of Rare Diseases

IF3.5

2026-06-220

PRE

Psychotic Features in Myhre Syndrome: Evidence for Broader Neuropsychiatric Surveillance

Myhre综合征中的精神病性特征：更广泛神经精神监测的证据

american journal of medical genetics part c: seminars in medical genetics

IF0

2026-06-100

Conferring a Genetic Diagnosis for Children with Neurodevelopmental Disorders in the Inpatient Psychiatry Setting May Reduce Hospital Stays and Improve Behavior

ADVANCES IN NEURODEVELOPMENTAL DISORDERS

IF1.5

2025-10-010

Emerging Role of the Complement System in the Induction of Neuroinflammation in Adenylosuccinate Lyase Deficiency Disorder

补体系统在腺苷琥珀酸裂解酶缺乏症中诱导神经炎症的新兴作用

brain behavior and immunity

IF0

2025-08-190

OAAI

A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines

一种新的多系统ERCC1-肝肾综合征：来自临床队列、分子发病机制和管理指南的见解

European Journal of Human Genetics

IF4.6

2025-07-190

OAAI

Susan M. White; Annelotte P. Wondergem; Isa Breet; Maren Dittmaier; Katrina Bell; Christopher M. Richmond; Winita Hardikar; Kanika Bhatia; Catherine Quinlan; David Orchard; Areetha D’Souza; Walter J. Chazin; Christopher Smith; Rebecca Sparkes; Simon Lam; Alexandra Carter; Robert J. Hopkin; Leticia Khendek; Bonnie R. Sullivan; Naja Becher; Anne Katrine W. Simonsen; Helene Kvistgaard; Katherine Dempsey; Alexander G. Miethke; Pernille Axél Gregersen; Eliza Phillips; Martijn S. Luijsterburg

Research Review of Myhre Syndrome

Myhre 综合征研究综述

american journal of medical genetics part c seminars in medical genetics

IF0

2025-06-060

PRE

Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE , a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extension

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-05-010

A Dual Diagnosis of Okur-Chung Neurodevelopmental Syndrome and Becker Muscular Dystrophy: Inquiry Into the Lower Limits of Neurodevelopmental Functioning Attributable to Muscular Dystrophy

Okur-Chung神经发育综合征与Becker肌营养不良的双诊断：关于可归因于肌营养不良的神经发育功能下限的探究

religion brain behavior

IF2.7

2025-02-060

OAAI

Long-term safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from the ASPIRE study and open-label extension

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Updated results from an ongoing phase 1/2 study (STAAR)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Miglustat: A first-in-class enzyme stabilizer for late-onset Pompe disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Quality of life of migalastat-treated adolescents with Fabry disease: Results from the ASPIRE study and open-label extension

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Improved growth in children with Fabry disease during treatment with agalsidase beta: A Fabry Registry analysis

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Evaluating the relationship between infusion-related reactions and anti-drug antibody status: Results from 111 patients with Fabry disease treated with pegunigalsidase alfa

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Lower rate of infusion-related reactions in patients with Fabry disease after switching from agalsidase beta to pegunigalsidase alfa

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Multiorgan involvement in females with Fabry disease: Results from two phase III trials and the followME registry

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-010

PRE

Isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Updated results from an ongoing phase 1/2 study (STAAR)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-012

PRE

Assessment of immunogenicity from the pegunigalsidase alfa clinical trial program: Integrated analysis of de novo and treatment-boosted anti-drug antibodies

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-010

PRE

Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study

JOURNAL OF MEDICAL GENETICS

IF3.7

2023-11-0824

OAAI

Wallace, Eric L.; Goker-Alpan, Ozlem; Wilcox, William R.; Holida, Myrl; Bernat, John; Longo, Nicola; Linhart, Ales; Hughes, Derralynn A.; Hopkin, Robert J.; Tondel, Camilla; Langeveld, Mirjam; Giraldo, Pilar; Pisani, Antonio; Germain, Dominique Paul; Mehta, Ankit; Deegan, Patrick B.; Molnar, Maria Judit; Ortiz, Damara; Jovanovic, Ana; Muriello, Michael; Barshop, Bruce A.; Kimonis, Virginia; Vujkovac, Bojan; Nowak, Albina; Geberhiwot, Tarekegn; Kantola, Ilkka; Knoll, Jasmine; Waldek, Stephen; Nedd, Khan; Karaa, Amel; Brill-Almon, Einat; Alon, Sari; Chertkoff, Raul; Rocco, Rossana; Sakov, Anat; Warnock, David G.

Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study

FRONTIERS IN MEDICINE

IF3

2023-09-017

OAAI

Robert J. Hopkin

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