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19 results

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Page 1
SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy.
Roshandel D, Sanders EJ, Shakeshaft A, Panjwani N, Lin F, Collingwood A, Hall A, Keenan K, Deneubourg C, Mirabella F, Topp S, Zarubova J, Thomas RH, Talvik I, Syvertsen M, Striano P, Smith AB, Selmer KK, Rubboli G, Orsini A, Ng CC, Møller RS, Lim KS, Hamandi K, Greenberg DA, Gesche J, Gardella E, Fong CY, Beier CP, Andrade DM, Jungbluth H, Richardson MP, Pastore A, Fanto M, Pal DK, Strug LJ; BIOJUME Consortium. Roshandel D, et al. NPJ Genom Med. 2023 Sep 28;8(1):28. doi: 10.1038/s41525-023-00370-z. NPJ Genom Med. 2023. PMID: 37770509 Free PMC article.
Variation in prognosis and treatment outcome in juvenile myoclonic epilepsy: a Biology of Juvenile Myoclonic Epilepsy Consortium proposal for a practical definition and stratified medicine classifications.
Rubboli G, Beier CP, Selmer KK, Syvertsen M, Shakeshaft A, Collingwood A, Hall A, Andrade DM, Fong CY, Gesche J, Greenberg DA, Hamandi K, Lim KS, Ng CC, Orsini A; BIOJUME Consortium; Striano P, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK. Rubboli G, et al. Brain Commun. 2023 Jun 9;5(3):fcad182. doi: 10.1093/braincomms/fcad182. eCollection 2023. Brain Commun. 2023. PMID: 37361715 Free PMC article. Review.
Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland.
Leighton DJ, Ansari M, Newton J, Parry D, Cleary E, Colville S, Stephenson L, Larraz J, Johnson M, Beswick E, Wong M, Gregory J, Carod Artal J, Davenport R, Duncan C, Morrison I, Smith C, Swingler R, Deary IJ, Porteous M, Aitman TJ, Chandran S, Gorrie GH, Pal S; Lothian Birth Cohorts Group; and the CARE-MND Consortium. Leighton DJ, et al. J Neurol. 2023 Mar;270(3):1702-1712. doi: 10.1007/s00415-022-11505-0. Epub 2022 Dec 14. J Neurol. 2023. PMID: 36515702 Free PMC article.
Feasibility of comparing medical management and surgery (with neurosurgery or stereotactic radiosurgery) with medical management alone in people with symptomatic brain cavernoma - protocol for the Cavernomas: A Randomised Effectiveness (CARE) pilot trial.
Loan JJM, Bacon A, van Beijnum J, Bhatt P, Bjornson A, Broomes N, Bullen A, Bulters D, Cahill J, Chavredakis E, Colombo F, Danciut M, Digpal R, Edwards RJ, Ferguson L, Forsyth L, Fouyas I, Ganesan V, Grover P, Gurusinghe N, Hall PS, Harkness K, Harris LS, Hayton T, Helmy A, Holsgrove D, Hutchinson PJ, Israni A, Kinsella E, Lewis S, Majeed S, Mallucci C, Mukerji N, Nair R, Neilson AR, Papadopoulos MC, Radatz M, Rossdeutsch A, Raza-Knight S, Stephen J, Stoddart A, Teo M, Turner C, Wade J, Walsh D, White D, White P, Wildman J, Wroe Wright O, Uff C, Ushewokunze S, Vindlacheruvu R, Kitchen N, Al-Shahi Salman R; Cavernomas A Randomised Effectiveness (CARE) pilot trial collaborators. Loan JJM, et al. BMJ Open. 2023 Aug 9;13(8):e075187. doi: 10.1136/bmjopen-2023-075187. BMJ Open. 2023. PMID: 37558454 Free PMC article.
The goddess of wisdom.
Rauen C, Fisk AC, Hamilton S, Lincoln P, Lyons AC, McAleer DM, Miga KC. Rauen C, et al. Among authors: mcaleer dm. Crit Care Nurse. 2013 Oct;33(5):70-4. doi: 10.4037/ccn2013978. Crit Care Nurse. 2013. PMID: 24085829 No abstract available.
Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland.
Leighton DJ, Ansari M, Newton J, Cleary E, Stephenson L, Beswick E, Carod Artal J, Davenport R, Duncan C, Gorrie GH, Morrison I, Swingler R, Deary IJ, Porteous M, Chandran S, Pal S; Lothian Birth Cohorts Group, the CARE-MND Consortium. Leighton DJ, et al. J Neurol. 2024 Aug;271(8):5256-5266. doi: 10.1007/s00415-024-12450-w. Epub 2024 Jun 9. J Neurol. 2024. PMID: 38852112 Free PMC article.
Addressing barriers and identifying facilitators to support informed consent and recruitment in the Cavernous malformations A Randomised Effectiveness (CARE) pilot phase trial: insights from the integrated QuinteT recruitment intervention (QRI).
Wade J, Farrar N, Realpe AX, Donovan JL, Forsyth L, Harkness KA, Hutchinson PJA, Kitchen N, Lewis SC, Loan JJM, Stephen J, Al-Shahi Salman R; CARE pilot trial collaboration. Wade J, et al. EClinicalMedicine. 2024 Apr 18;71:102557. doi: 10.1016/j.eclinm.2024.102557. eCollection 2024 May. EClinicalMedicine. 2024. PMID: 38813441 Free PMC article.
Longitudinal evaluation of quality of life in 288 patients with neurofibromatosis 2.
Ferner RE, Shaw A, Evans DG, McAleer D, Halliday D, Parry A, Raymond FL, Durie-Gair J, Hanemann CO, Hornigold R, Axon P, Golding JF. Ferner RE, et al. Among authors: mcaleer d. J Neurol. 2014 May;261(5):963-9. doi: 10.1007/s00415-014-7303-1. Epub 2014 Mar 12. J Neurol. 2014. PMID: 24619350 Free PMC article.
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