Timothy M. Cox - Publications, H-index & Citations

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Timothy M. Cox

University of Cambridge

67H-index

408Paper Count

1.5WCitation Count

Published Papers 126

Publication Date

Correction: Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes

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

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Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes

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

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Venglustat in GM2 Gangliosidoses and Related Disorders: Results of the AMETHIST Randomized Controlled and Basket Trials

Genetics in Medicine

IF6.2

2025-10-15

OAAI

Cynthia J. Tifft; Isabela Batsu; Roberto Giugliani; Harmonie Goyeau; Andreas Hahn; Simon A. Jones; Pascal Minini; Ichiro Nakashima; Mar O’Callaghan; Susan Perlman; Nathan Thibault; Madhurima Uppara Kowthalam; Riliang Zheng; Timothy M. Cox

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Gaucher disease Type 3: classification of the chronic neuronopathic variant informed by genotype in a phenotypically diverse cohort

Genetics in Medicine

IF6.2

2025-06-18

PREAI

Aimée Donald; Simon A. Jones; Derralynn A. Hughes; Heather J. Church; ; Timothy M. Cox

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Treatment preferences of adult patients with hereditary fructose intolerance: A discrete choice experiment

Molecular Genetics and Metabolism

IF3.5

2025-06-07

OAAI

Lise E.F. Janssen; Mickaël Hiligsmann; Corrie Timmer; Liesbeth M.C. van der Ploeg; Kristel Vande Kerckhove; Timothy Cox; Javier de las Heras; David Cassiman; Martijn C.G.J. Brouwers

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Changes in Angiogenesis and Bone Turnover Markers in Patients with Gaucher Disease Developing Osteonecrosis

METABOLITES

IF3.7

2024-11-07

OAAI

D'Amore, Simona; Poole, Kenneth Eric; Ramaswami, Uma; Hughes, Derralynn; Page, Kathleen; Solimando, Antonio Giovanni; Vacca, Angelo; Cox, Timothy Martin; Deegan, Patrick

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Deep learning-based quantification of osteonecrosis using magnetic resonance images in Gaucher disease

BONE

IF3.6

2024-09-01

OAAI

Yu, Boliang; Whitmarsh, Tristan; Riede, Philipp; McDonald, Scott; Kaggie, Joshua D.; Cox, Timothy M.; Poole, Kenneth E. S.; Deegan, Patrick

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The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11, 5158

JOURNAL OF CLINICAL MEDICINE

IF2.9

2023-05-04

OAAI

Mistry, Pramod K.; Kishnani, Priya S.; Balwani, Manisha; Charrow, Joel M.; Hull, Judy; Weinreb, Neal J.; Cox, Timothy M.

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Radiographic Cortical Thickness Index Predicts Fragility Fracture in Gaucher Disease

RADIOLOGY

IF15.2

2023-04-01

OAAI

D'Amore, Simona; Sano, Hiroshige; Chappell, Daniel David George; Chiarugi, Davide; Baker, Olivia; Page, Kathleen; Ramaswami, Uma; Johannesdottir, Fjola; Cox, Timothy M.; Deegan, Patrick; Poole, Kenneth E.

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Gaucher disease protects against tuberculosis

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2023-02-06

OAAI

Fan, Jingwen; Hale, Victoria L.; Lelieveld, Lindsey T.; Whitworth, Laura J.; Busch-Nentwich, Elisabeth M.; Troll, Mark; Edelstein, Paul H.; Cox, Timothy M.; Roca, Francisco J.; Aerts, Johannes M. F. G.; Ramakrishnan, Lalita

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Fine-motor functioning and its relevance to activities of daily living in adults with late-onset GM2 gangliosidosis: Analysis of baseline data of AMETHIST trial

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-02-01

PREAI

Cox, Timothy M.; Rodriguez, Maria B.; Dyevre, Valerie; Msihid, Jerome; Gwaltney, Chad; Pulikottil-Jacob, Ruth; Zheng, Riliang; Minini, Pascal; Batsu, Isabela

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Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1

GENETICS IN MEDICINE

IF6.2

2023-02-01

OAAI

Cox, Timothy M.; Charrow, Joel; Lukina, Elena; Mistry, Pramod K.; Foster, Meredith C.; Peterschmitt, M. Judith

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Two years of venglustat combined with imiglucerase shows continued positive effects on neurological features and brain connectivity in adults with Gaucher disease type 3

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-02-01

PREAI

Batsu, Isabela; Zheng, Riliang; Minini, Pascal; Cherkasov, Dmitry; Scott, David; Goker-Alpan, Ozlem; Hennermann, Julia B.; Sakurai, Ken; Cox, Timothy M.

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Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2022-12-21

OAAI

Dardis, A.; Michelakakis, H.; Rozenfeld, P.; Fumic, K.; Wagner, J.; Pavan, E.; Fuller, M.; Revel-Vilk, S.; Hughes, D.; Cox, T.; Aerts, J.; Int Working Grp Gaucher Dis IWGGD

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Upregulation of non-canonical and canonical inflammasome genes associates with pathological features in Krabbe disease and related disorders

HUMAN MOLECULAR GENETICS

IF3.2

2022-12-15

OAAI

Cachon-Gonzalez, Maria B.; Zhao, Chao; Franklin, Robin J.; Cox, Timothy M.

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Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial

BRAIN

IF11.7

2022-10-18

OAAI

Schiffmann, Raphael; Cox, Timothy M.; Dedieu, Jean-Francois; Gaemers, Sebastiaan J. M.; Hennermann, Julia B.; Ida, Hiroyuki; Mengel, Eugen; Minini, Pascal; Mistry, Pramod; Musholt, Petra B.; Scott, David; Sharma, Jyoti; Peterschmitt, M. Judith

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Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A

HUMAN MUTATION

IF3.7

2022-10-08

OAAI

Pavlova, Elena, V; Lev, Dorit; Michelson, Marina; Yosovich, Keren; Michaeli, Hila Gur; Bright, Nicholas A.; Manna, Paul T.; Dickson, Veronica Kane; Tylee, Karen L.; Church, Heather J.; Luzio, J. Paul; Cox, Timothy M.

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Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2022-06-18

OAAI

Donald, Aimee; Bjorkvall, Cecilia Kampe; Vellodi, Ashok; Cox, Timothy M.; Hughes, Derralyn; Jones, Simon A.; Wynn, Robert; Machaczka, Maciej

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A novel brain-penetrant oral UGT8 inhibitor decreases in vivo galactosphingolipid biosynthesis in murine Krabbe disease

BIOMEDICINE & PHARMACOTHERAPY

IF7.5

2022-05-01

OAAI

Zaccariotto, Eva; Cachon-Gonzalez, Maria Begona; Wang, Bing; Lim, Sungtaek; Hirth, Bradford; Park, Hyejung; Fezoui, Malika; Sardi, S. Pablo; Mason, Paul; Barker, Robert H., Jr.; Cox, Timothy M.

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L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation

CELLS

IF5.2

2021-11-11

OAAI

Castejon-Vega, Beatriz; Rubio, Alejandro; Perez-Pulido, Antonio J.; Quiles, Jose L.; Lane, Jon D.; Fernandez-Dominguez, Beatriz; Cachon-Gonzalez, Maria Begona; Martin-Ruiz, Carmen; Sanz, Alberto; Cox, Timothy M.; Alcocer-Gomez, Elisabet; Cordero, Mario D.

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Research Directions