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Page 1
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).
Gregory A, Lotia M, Jeong SY, Fox R, Zhen D, Sanford L, Hamada J, Jahic A, Beetz C, Freed A, Kurian MA, Cullup T, van der Weijden MCM, Nguyen V, Setthavongsack N, Garcia D, Krajbich V, Pham T, Woltjer R, George BP, Minks KQ, Paciorkowski AR, Hogarth P, Jankovic J, Hayflick SJ. Gregory A, et al. Among authors: fox r. Mol Genet Genomic Med. 2019 Jul;7(7):e00736. doi: 10.1002/mgg3.736. Epub 2019 May 13. Mol Genet Genomic Med. 2019. PMID: 31087512 Free PMC article.
4'-Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN.
Jeong SY, Hogarth P, Placzek A, Gregory AM, Fox R, Zhen D, Hamada J, van der Zwaag M, Lambrechts R, Jin H, Nilsen A, Cobb J, Pham T, Gray N, Ralle M, Duffy M, Schwanemann L, Rai P, Freed A, Wakeman K, Woltjer RL, Sibon OC, Hayflick SJ. Jeong SY, et al. Among authors: fox r. EMBO Mol Med. 2019 Dec;11(12):e10489. doi: 10.15252/emmm.201910489. Epub 2019 Oct 29. EMBO Mol Med. 2019. PMID: 31660701 Free PMC article.
A new NBIA patient from Turkey with homozygous C19ORF12 mutation.
Kasapkara ÇS, Tümer L, Gregory A, Ezgü F, İnci A, Derinkuyu BE, Fox R, Rogers C, Hayflick S. Kasapkara ÇS, et al. Among authors: fox r. Acta Neurol Belg. 2019 Dec;119(4):623-625. doi: 10.1007/s13760-018-1026-5. Epub 2018 Oct 8. Acta Neurol Belg. 2019. PMID: 30298423 Free PMC article. No abstract available.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V; Deciphering Developmental Disorders Study; Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG; Genomics England Research Consortium; Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H; NIHR BioResource; Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M; Undiagnosed Diseases Network; Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D… See abstract for full author list ➔ Cif L, et al. Among authors: fox rg. Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. Brain. 2020. PMID: 33150406 Free PMC article.
Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency.
Di Meo I, Colombelli C, Srinivasan B, de Villiers M, Hamada J, Jeong SY, Fox R, Woltjer RL, Tepper PG, Lahaye LL, Rizzetto E, Harrs CH, de Boer T, van der Zwaag M, Jenko B, Čusak A, Pahor J, Kosec G, Grzeschik NA, Hayflick SJ, Tiranti V, Sibon OCM. Di Meo I, et al. Among authors: fox r. Sci Rep. 2017 Sep 12;7(1):11260. doi: 10.1038/s41598-017-11564-8. Sci Rep. 2017. PMID: 28900161 Free PMC article.
Web-based pain coping skills training (PCST) for managing aromatase inhibitor-associated arthralgia in breast cancer survivors: Randomized controlled trial protocol.
Hosseinian Z, Lehan A, Powers JM, Melendez A, Fisher HM, Shelby R, Somers T, Keefe F, Paice J, Kimmick G, Burns J, Flores AM, Fox RS, Kaiser K, Farrell D, Westbrook K, Rini C. Hosseinian Z, et al. Among authors: fox rs. Contemp Clin Trials. 2024 Dec 18:107780. doi: 10.1016/j.cct.2024.107780. Online ahead of print. Contemp Clin Trials. 2024. PMID: 39706331
Author Correction: Mobilise-D insights to estimate real-world walking speed in multiple conditions with a wearable device.
Kirk C, Küderle A, Micó-Amigo ME, Bonci T, Paraschiv-Ionescu A, Ullrich M, Soltani A, Gazit E, Salis F, Alcock L, Aminian K, Becker C, Bertuletti S, Brown P, Buckley E, Cantu A, Carsin AE, Caruso M, Caulfield B, Cereatti A, Chiari L, D'Ascanio I, Garcia-Aymerich J, Hansen C, Hausdorff JM, Hiden H, Hume E, Keogh A, Kluge F, Koch S, Maetzler W, Megaritis D, Mueller A, Niessen M, Palmerini L, Schwickert L, Scott K, Sharrack B, Sillén H, Singleton D, Vereijken B, Vogiatzis I, Yarnall AJ, Rochester L, Mazzà C, Eskofier BM, Del Din S; Mobilise-D consortium. Kirk C, et al. Sci Rep. 2024 Nov 21;14(1):28878. doi: 10.1038/s41598-024-79454-4. Sci Rep. 2024. PMID: 39572620 Free PMC article. No abstract available.
Optimisation of a novel series of ENaC inhibitors, leading to the selection of the long-acting inhaled clinical candidate ETD001, a potential new treatment for cystic fibrosis.
Danahay H, Gosling M, Fox R, Lilley S, Charlton H, Hargrave JD, Schofield TB, Hay DA, Went N, McMahon P, Marlin F, Scott J, Vile J, Hewison S, Ellam S, Brown S, Sabater J, Kennet G, Lightowler S, Collingwood SP. Danahay H, et al. Among authors: fox r. Eur J Med Chem. 2025 Jan 15;282:117040. doi: 10.1016/j.ejmech.2024.117040. Epub 2024 Nov 8. Eur J Med Chem. 2025. PMID: 39561495 Free article.
2,821 results