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145 results

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A multicentre, randomised controlled trial to compare the clinical and cost-effectiveness of Lee Silverman Voice Treatment versus standard NHS Speech and Language Therapy versus control in Parkinson's disease: a study protocol for a randomised controlled trial.
Sackley CM, Rick C, Au P, Brady MC, Beaton G, Burton C, Caulfield M, Dickson S, Dowling F, Hughes M, Ives N, Jowett S, Masterson-Algar P, Nicoll A, Patel S, Smith CH, Woolley R, Clarke CE; PD COMM Collaborative Group. Sackley CM, et al. Among authors: au p. Trials. 2020 May 27;21(1):436. doi: 10.1186/s13063-020-04354-7. Trials. 2020. PMID: 32460885 Free PMC article.
Rating the intelligibility of dysarthic speech amongst people with Parkinson's Disease: a comparison of trained and untrained listeners.
Smith CH, Patel S, Woolley RL, Brady MC, Rick CE, Halfpenny R, Rontiris A, Knox-Smith L, Dowling F, Clarke CE, Au P, Ives N, Wheatley K, Sackley CM. Smith CH, et al. Among authors: au p. Clin Linguist Phon. 2019;33(10-11):1063-1070. doi: 10.1080/02699206.2019.1604806. Epub 2019 Apr 29. Clin Linguist Phon. 2019. PMID: 31035809
Long-term Effectiveness of Adjuvant Treatment With Catechol-O-Methyltransferase or Monoamine Oxidase B Inhibitors Compared With Dopamine Agonists Among Patients With Parkinson Disease Uncontrolled by Levodopa Therapy: The PD MED Randomized Clinical Trial.
Gray R, Patel S, Ives N, Rick C, Woolley R, Muzerengi S, Gray A, Jenkinson C, McIntosh E, Wheatley K, Williams A, Clarke CE; PD MED Collaborative Group. Gray R, et al. JAMA Neurol. 2022 Feb 1;79(2):131-140. doi: 10.1001/jamaneurol.2021.4736. JAMA Neurol. 2022. PMID: 34962574 Free PMC article. Clinical Trial.
Long-term effectiveness of dopamine agonists and monoamine oxidase B inhibitors compared with levodopa as initial treatment for Parkinson's disease (PD MED): a large, open-label, pragmatic randomised trial.
PD Med Collaborative Group; Gray R, Ives N, Rick C, Patel S, Gray A, Jenkinson C, McIntosh E, Wheatley K, Williams A, Clarke CE. PD Med Collaborative Group, et al. Lancet. 2014 Sep 27;384(9949):1196-205. doi: 10.1016/S0140-6736(14)60683-8. Epub 2014 Jun 11. Lancet. 2014. PMID: 24928805 Clinical Trial.
Refining Ovarian Cancer Test accuracy Scores (ROCkeTS): protocol for a prospective longitudinal test accuracy study to validate new risk scores in women with symptoms of suspected ovarian cancer.
Sundar S, Rick C, Dowling F, Au P, Snell K, Rai N, Champaneria R, Stobart H, Neal R, Davenport C, Mallett S, Sutton A, Kehoe S, Timmerman D, Bourne T, Van Calster B, Gentry-Maharaj A, Menon U, Deeks J; ROCkeTS study group. Sundar S, et al. Among authors: au p. BMJ Open. 2016 Aug 9;6(8):e010333. doi: 10.1136/bmjopen-2015-010333. BMJ Open. 2016. PMID: 27507231 Free PMC article.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu… See abstract for full author list ➔ Johannesen KM, et al. Among authors: au pyb. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, Goldenberg A, Innes AM, Juusola J, Kempers M, Kinning E, Markie DM, Owens MM, Payne K, Person R, Pfundt R, Stocco A, Turner CLS, Verbeek NE, Walsh LE, Warner TC, Wheeler PG, Wieczorek D, Wilkens AB, Zonneveld-Huijssoon E; Deciphering Developmental Disorders Study; Kleefstra T, Robertson SP, Santani A, van Gassen KLI, Deardorff MA. Skraban CM, et al. Among authors: au pyb. Am J Hum Genet. 2017 Jul 6;101(1):139-148. doi: 10.1016/j.ajhg.2017.06.002. Am J Hum Genet. 2017. PMID: 28686853 Free PMC article.
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivière JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ. O'Rawe JA, et al. Among authors: au py. Am J Hum Genet. 2015 Dec 3;97(6):922-32. doi: 10.1016/j.ajhg.2015.11.005. Am J Hum Genet. 2015. PMID: 26637982 Free PMC article.
145 results