Frances M. Platt - Publications, H-index & Citations

Frances M. Platt

university of oxford

85H指数

382论文数

2.6W被引数

收录论文 178

发表时间

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders 当代遗传性溶酶体疾病的病理解剖分类学

Journal of Inherited Metabolic Disease

IF3.8

2026-09-06

PREAI

Eamon P. McCarron; Nenad Blau; Emily R. Eden; Frances M. Platt; Johannes M. Aerts; Simon A. Jones; Carlos R. Ferreira; Karolina M. Stepien

Erratum to “Links between COVID-19, long COVID, and neurodegeneration: The role of glycosphingolipids” [Pharmacological Reviews 78 (2026) 100113]更正“COVID-19、长新冠与神经退行性疾病之间的联系：神经节苷脂的作用” [Pharmacological Reviews 78 (2026) 100113]

Pharmacological Reviews

IF17.3

2026-05-20

PREAI

Michael Spedding; Johannes Aerts; Steve Alexander; Aurélie-Gaëlle Bellozzi Woestelandt; Elena Chiricozzi; Alexandre Henriques; Pierre-Marie Lledo; Jean-Philippe Loeffler; Rushika Perera; Frances M. Platt; Pierre-François Pradat; Frédérique Rene; Anthony Schapira; Laura St Clair; Kevin Talbot; Maxime Taquet; Michal Toborek; Bradley Turner; Michael Zandi; Pierre Gressens

Synthesis of N-Acetyl-D- and -L-Leucine-13C6 Tool Compounds in Neurodegenerative Disease 合成神经退行性疾病中N-乙酰基-D-和-L-亮氨酸-13C6工具化合物

ChemMedChem

IF3.4

2026-05-15

OAAI

Damien Crepin; Andrew McGown; Dawn Shepherd; Rebecca Braine; Manvendra Sharma; Jordan Nafie; João Gabriel Ribeiro; G. Dan Pantoş; Grant Churchill; Frances M. Platt; John Spencer

Links between COVID-19, long COVID and neurodegeneration: the role of glycosphingolipids 新型冠状病毒肺炎，长COVID和神经变性之间的联系: 鞘糖脂的作用

Pharmacological Reviews

IF17.3

2026-01-29

OAAI

Michael Spedding; Johannes Aerts; Steve Alexander; Aurélie-Gaëlle Bellozzi Woestelandt; Elena Chiricozzi; Alexandre Henriques; Pierre-Marie Lledo; Jean-Philippe Loeffler; Rushika Perera; Frances Platt; Pierre-François Pradat; Frédérique Rene; Anthony Schapira; Laura St Clair; Kevin Talbot; Maxime Taquet; Michal Toborek; Bradley Turner; Michael Zandi; Pierre Gressens

Limited therapeutic efficacy of N-acetyl-L-leucine in a mouse model of CLN1 disease N-乙酰-L-亮氨酸在CLN1疾病小鼠模型中的治疗效果有限

Scientific Reports

IF3.9

2025-12-29

OAAI

Ewa A. Ziółkowska; Nicole A. Pagán Torres; Hsintsung Chen; Letitia L. Williams; Elizabeth M. Eultgen; Agnieszka Nowacka; Joshua T. Dearborn; Hemanth R. Nelvagal; Ineka T. Whiteman; Frances M. Platt; Jonathan D. Cooper

Brain-Directed AAV Gene Therapy Rescues a Mouse Model of the CLN5 Form of Neuronal Ceroid Lipofuscinosis Disease and Normalizes a Blood Plasma Biomarker of Neurodegeneration

Human Gene Therapy

IF4

2025-12-01

PREAI

Liu, Wenfei; Geard, Amy F.; Massaro, Giulia; Hughes, Michael P.; Aristorena, Mikel; Coombe-Tennant, Oliver; Xu, Liangyuan; Semenyuk, Olha; Bush, Reuben; Te Vruchte, Danielle; Priestman, David; Laban, Rhiannon; Veleva, Elena; Heslegrave, Amanda J.; Zetterberg, Henrik; Platt, Frances M.; Smith, Alexander J.; Mole, Sara E.; Ali, Robin R.; Rahim, Ahad A.

Correction: Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes 更正：Glycoprotein non-metastatic melanoma protein B是Gaucher病患者炎症的生物标志物：与临床病理亚型的关系

Orphanet Journal of Rare Diseases

IF3.5

2025-11-18

OAAI

Sebile Kilavuz; Kerri-Lee Wallom; Ana Catarina Gomes Almeida Augusto Caçote; Aimée Donald; Simona D’Amore; Kathy Page; Chong Yew Tan; Danielle te Vruchte; Andrea Sturchio; Panagiota Tsitsi; Ellen Hertz; Mattias Andréasson; Ioanna Markaki; Per Svenningsson; Timothy M. Cox; Frances M. Platt

Miglustat as a Treatment for Adults with Tangier Disease Neuropathy: The MUSTANG N-of-1 Trial with 21 months Clinical Observation 米格lustat作为治疗Tangier病患者神经病变的药物：为期21个月的MUSTANG N-of-1临床试验临床观察

Neurology and Therapy

IF4.8

2025-11-10

OAAI

Andrew Cook; Beth Stuart; Antonio Ochoa-Ferraro; Nicola Condon; Megan Lawrence; Fran Webley; Kerri-Lee Wallom; Claire Forbes; Vishy Veeranna; Subadra Wanninayake; Tom Oliver; Nicholas Davies; Charlotte Dawson; Frances Platt; Tarekegn Hiwot

Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder 分析溶酶体游离唾液酸贮积症小鼠和人细胞模型中神经节苷脂的变化

MOLECULAR GENETICS AND METABOLISM REPORTS

IF1.9

2025-11-01

OAAI

Sabir, Marya S.; Dobrenis, Kostantin; Rha, Allisandra K.; Pollard, Laura; Leoyklang, Petcharat; Marrero, Mariah; Ciccone, Carla; Hackbarth, Mary E.; Huizing, Marjan; Wang, Raymond Y.; Gahl, William A.; Platt, Frances M.; Malicdan, May Christine V.

Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes 糖蛋白非转移性黑素瘤蛋白B是高雪氏病患者炎症的生物标志物：与临床病理亚型的关系

Orphanet Journal of Rare Diseases

IF3.5

2025-10-29

OAAI

Sebile Kilavuz; Kerri-Lee Wallom; Ana Catarina Gomes Almeida Augusto Caçote; Aimée Donald; Simona D’Amore; Kathy Page; Chong Yew Tan; Danielle te Vruchte; Andrea Sturchio; Panagiota Tsitsi; Ellen Hertz; Mattias Andréasson; Ioanna Markak; Per Svenningsson; Timothy M. Cox; Frances M. Platt

A pathogenic alpha synuclein variant exacerbates disease progression in a neuron-specific Gba-KO mouse 一种致病性α突触核蛋白变体加剧了神经元特异性Gba-KO小鼠的疾病进展

Neurobiology of Disease

IF5.6

2025-08-27

OAAI

Hannah B.D. Duffy; Colleen Byrnes; Hongling Zhu; Y. Terry Lee; Samantha Olmsted; Galina Tuymetova; Sydney N. Pettit; Frances M. Platt; Richard L. Proia

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies 常染色体隐性小脑共济失调：从基因到疗法

Annals of Neurology

IF7.7

2025-06-04

OAAI

Brent L. Fogel MD, PhD; Thomas Klopstock; David R. Lynch; Francesca Maltecca; Mayank Verma; Berge A. Minassian; Frances M. Platt; Débora Farina Gonçalves; Hélène Puccio; Andreas Roos; Matthis Synofzik MD

Comprehensive analysis of SLC17A5 variants in large European cohorts reveals no association with Parkinson's disease risk

PARKINSONISM & RELATED DISORDERS

IF3.4

2025-03-01

PREAI

Sabir, Marya S.; Makarious, Mary B.; Huizing, Marjan; Gahl, William A.; Platt, Frances M.; Malicdan, May Christine V.

Insights into the mechanism of action of a acetyl-leucine as a therapeutic for lysosomal diseases

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-01

PREAI

Platt, Frances M.; Galione, Antony; Bremova-Ertl, Tatiana; Strupp, Michael; Churchill, Grant

Dysregulation of the NLRP3 Inflammasome and Promotion of Disease by IL-1β in a Murine Model of Sandhoff Disease

CELLS

IF5.2

2025-01-01

OAAI

Platt, Nick; Shepherd, Dawn; Smith, David A.; Smith, Claire; Wallom, Kerri-Lee; Luqmani, Raashid; Churchill, Grant C.; Galione, Antony; Platt, Frances M.

Deletion of Gba in neurons, but not microglia, causes neurodegeneration in a Gaucher mouse model

JCI INSIGHT

IF6.1

2024-11-08

OAAI

Duffy, Hannah B. D.; Byrnes, Colleen; Zhu, Hongling; Tuymetova, Galina; Lee, Y. Terry; Platt, Frances M.; Proia, Richard L.

Plasma phosphorylated-tau217 is increased in Niemann-Pick disease type C

BRAIN COMMUNICATIONS

IF4.5

2024-10-25

OAAI

Gonzalez-Ortiz, Fernando; Karikari, Thomas K.; Taylor-Te Vruchte, Danielle; Shepherd, Dawn; Kirsebom, Bjorn-Eivind; Fladby, Tormod; Platt, Frances; Blennow, Kaj

The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1 GBA1的注释已被其蛋白质编码假基因GBAP1所掩盖

SCIENCE ADVANCES

IF12.5

2024-06-28

OAAI

Gustavsson, Emil K.; Sethi, Siddharth; Gao, Yujing; Brenton, Jonathan W.; Garcia-Ruiz, Sonia; Zhang, David; Garza, Raquel; Reynolds, Regina H.; Evans, James R.; Chen, Zhongbo; Grant-Peters, Melissa; Macpherson, Hannah; Montgomery, Kylie; Dore, Rhys; Wernick, Anna I.; Arber, Charles; Wray, Selina; Gandhi, Sonia; Esselborn, Julian; Blauwendraat, Cornelis; Douse, Christopher H.; Adami, Anita; Atacho, Diahann A. M.; Kouli, Antonina; Quaegebeur, Annelies; Barker, Roger A.; Englund, Elisabet; Platt, Frances; Jakobsson, Johan; Wood, Nicholas W.; Houlden, Henry; Saini, Harpreet; Bento, Carla F.; Hardy, John; Ryten, Mina

Investigating the role of miglustat in the management of a patient with Tangier disease: An n-of-1 study with alternating periods of intervention and

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-01

PREAI

Geberhiwot, Tarekegn; Ochoa-Ferraro, Antonio; Cook, Andrew; Platt, Frances; Wallom, Kerri-Lee; Condon, Nicola

Advancing free sialic acid storage (FSASD) disorder disease modeling: Insights from iPSC-derived neural cell types

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-01

PREAI

Sabir, Marya S.; Jovanovic, Vukasin M.; Pollard, Laura; Ryu, Seungmi; Sen, Chaitali; Ormanoglu, Pinar; Gahl, William A.; Huizing, Marjan; Tristan, Carlos A.; Platt, Frances M.; Malicdan, May Christine V.

研究方向