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1,674 results

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Page 1
Endothelial, sympathetic, and cardiac function in inherited (6R)-L-erythro-5,6,7,8-tetrahydro-L-biopterin deficiency.
Mayahi L, Mason L, Bleasdale-Barr K, Donald A, Trender-Gerhard I, Sweeney MG, Davis MB, Wood N, Mathias CJ, Watson L, Pellerin D, Heales S, Deanfield JE, Bhatia K, Murray-Rust J, Hingorani AD. Mayahi L, et al. Among authors: bhatia k. Circ Cardiovasc Genet. 2010 Dec;3(6):513-22. doi: 10.1161/CIRCGENETICS.110.957605. Epub 2010 Oct 11. Circ Cardiovasc Genet. 2010. PMID: 20937667
Erratum to: Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay.
Heywood WE, Galimberti D, Bliss E, Sirka E, Paterson RW, Magdalinou NK, Carecchio M, Reid E, Heslegrave A, Fenoglio C, Scarpini E, Schott JM, Fox NC, Hardy J, Bhatia KP, Heales S, Sebire NJ, Zetterberg H, Mills K. Heywood WE, et al. Among authors: bhatia kp. Mol Neurodegener. 2016 Feb 23;11:20. doi: 10.1186/s13024-016-0086-3. Mol Neurodegener. 2016. PMID: 26907468 Free PMC article. No abstract available.
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium; Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA. Meyer E, et al. Among authors: bhatia kp. Nat Genet. 2017 Feb;49(2):223-237. doi: 10.1038/ng.3740. Epub 2016 Dec 19. Nat Genet. 2017. PMID: 27992417 Free article.
Movement disorders in adult patients with classical galactosemia.
Rubio-Agusti I, Carecchio M, Bhatia KP, Kojovic M, Parees I, Chandrashekar HS, Footitt EJ, Burke D, Edwards MJ, Lachmann RH, Murphy E. Rubio-Agusti I, et al. Mov Disord. 2013 Jun;28(6):804-10. doi: 10.1002/mds.25348. Epub 2013 Feb 11. Mov Disord. 2013. PMID: 23400815
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: bhatia kp. Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. Brain. 2020. PMID: 33150406 Free PMC article.
1,674 results