Items where authors include "McNeill, A."

Article

East, K. orcid.org/0000-0001-9083-2131, Vu, G., Sun, T. orcid.org/0000-0002-3939-9499 et al. (7 more authors) (2025) Harm perceptions across vaping product features: An on‐line cross‐sectional survey of adults who smoke and/or vape in the United Kingdom. Addiction, 120 (3). pp. 524-538. ISSN 0965-2140

Howard, J., Bekker, H. L. orcid.org/0000-0003-1978-5795, McDermott, C. J. et al. (1 more author) (2025) Exploring the needs and preferences of people with amyotrophic lateral sclerosis (ALS) when making genomic testing decisions: an interview study. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. ISSN 2167-8421

Howard, J. orcid.org/0000-0001-7182-593X, Bekker, H.L. orcid.org/0000-0003-1978-5795, McDermott, C.J. orcid.org/0000-0002-1269-9053 et al. (1 more author) (2025) Exploring the needs and preferences of people with amyotrophic lateral sclerosis (ALS) when making genomic testing decisions: an interview study. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. ISSN 2167-8421

Howard, J. orcid.org/0000-0001-7182-593X, Chaouch, A. orcid.org/0009-0005-4340-6400, Douglas, A.G.L. et al. (3 more authors) (2025) Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members. European Journal of Human Genetics, 33 (1). pp. 7-13. ISSN 1018-4813

Nathan, A., Gao, C., Light, A. et al. (22 more authors) (2024) Early oncological outcomes of delayed radical prostatectomy: A prospective, international, follow‐up analysis of the COVIDSurg‐Cancer study. BJUI Compass, 5 (12). pp. 1314-1323. ISSN 2688-4526

Morgan, A.T. orcid.org/0000-0003-1147-7405, Coleman, B. orcid.org/0000-0002-4422-1708, Vogel, A.P. orcid.org/0000-0002-3505-2631 et al. (2 more authors) (2024) Speech and language classification in the human phenotype ontology. European Journal of Human Genetics, 32 (12). pp. 1518-1521. ISSN 1018-4813

Cooper, K. orcid.org/0000-0002-7702-8103, Nalbant, G. orcid.org/0000-0002-5414-9383, Sutton, A. orcid.org/0000-0003-2449-2516 et al. (5 more authors) (2024) Systematic review of presymptomatic treatment for spinal muscular atrophy. International Journal of Neonatal Screening, 10 (3). 56. ISSN 2409-515X

Cooper, K. orcid.org/0000-0002-7702-8103, Nalbant, G. orcid.org/0000-0002-5414-9383, Sutton, A. orcid.org/0000-0003-2449-2516 et al. (5 more authors) (2024) Systematic review of newborn screening programmes for spinal muscular atrophy. International Journal of Neonatal Screening, 10 (3). 49. ISSN 2409-515X

Howard, J. orcid.org/0000-0001-7182-593X, Bekker, H.L., McDermott, C.J. orcid.org/0000-0002-1269-9053 et al. (1 more author) (2024) Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service. Journal of Medical Genetics, 61 (7). pp. 661-665. ISSN 0022-2593

Howard, J., Bekker, H.L orcid.org/0000-0003-1978-5795, McDermott, C.J. et al. (1 more author) (2024) Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service. Journal of Medical Genetics. ISSN 0022-2593

Smith, H., Al-Jawahiri, R., Stokes, L. et al. (4 more authors) (2024) Impaired communication ability in SOX11 syndrome. Journal of Intellectual Disability Research, 68 (3). pp. 285-292. ISSN 0964-2633

Payne, T. orcid.org/0000-0001-6753-7847, Burgess, T., Bradley, S. et al. (12 more authors) (2023) Multimodal assessment of mitochondrial function in Parkinson's disease. Brain, 147 (1). pp. 267-280. ISSN 0006-8950

Al-Jawahiri, R., Stokes, L., Smith, H. et al. (2 more authors) (2023) Short report: Behavioural characterisation of SOX11 syndrome. Research in Developmental Disabilities, 143. 104623. ISSN 0891-4222

Payne, T., Appleby, M., Buckley, E. et al. (16 more authors) (2023) A double‐blind, randomized, placebo‐controlled trial of ursodeoxycholic acid (UDCA) in Parkinson's disease. Movement Disorders, 38 (8). pp. 1493-1502. ISSN 0885-3185

Redgrave, S. and McNeill, A. (2022) A qualitative interview study of the attitudes toward reproductive options of people with genetic visual loss. Journal of Genetic Counseling, 31 (5). pp. 1231-1234. ISSN 1059-7700

Binshalan, T., Nair, K.P.S. orcid.org/0000-0002-4004-2315 and McNeill, A. (2022) The effectiveness of physiotherapy interventions for mobility in severe multiple sclerosis: a systematic review and meta-analysis. Multiple Sclerosis International, 2022. 2357785. ISSN 2090-2654

Shribman, S., Marjot, T., Sharif, A. et al. (12 more authors) (2022) Investigation and management of Wilson's disease: a practical guide from the British Association for the Study of the Liver. The Lancet Gastroenterology & Hepatology, 7 (6). pp. 560-575. ISSN 2468-1253

McNeill, A., Amador, M.-D.-M., Bekker, H. et al. (11 more authors) (2022) Predictive genetic testing for motor neuron disease : time for a guideline? European Journal of Human Genetics, 30 (6). pp. 635-636. ISSN 1018-4813

McNeill, A., Aurora, P., Rajput, K. et al. (4 more authors) (2022) Dominant and recessive SLC12A2-syndrome. American Journal of Medical Genetics Part A, 188 (3). pp. 996-999. ISSN 1552-4825

McNeill, A. (2021) Comment on : Bi-allelic variants in genes previously associated with dominant inheritance : CACNA1A, RET and SLC20A2. European Journal of Human Genetics, 29. pp. 1475-1476. ISSN 1018-4813

Horton, M., Perman-Howe, P.R., Angus, C. orcid.org/0000-0003-0529-4135 et al. (31 more authors) (2021) The SPECTRUM Consortium: a new UK Prevention Research Partnership consortium focussed on the commercial determinants of health, the prevention of non-communicable diseases, and the reduction of health inequalities. Wellcome Open Research, 6. 6. ISSN 2398-502X

McNeill, A., Iovino, E., Mansard, L. et al. (17 more authors) (2020) SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect. Brain, 143 (8). pp. 2380-2387. ISSN 0006-8950

Payne, T., Sassani, M., Buckley, E. et al. (12 more authors) (2020) Ursodeoxycholic acid as a novel disease-modifying treatment for Parkinson’s disease: protocol for a two-centre, randomised, double-blind, placebo-controlled trial, The 'UP' study. BMJ Open, 10 (8). e038911. ISSN 2044-6055

McNeill, A., Lewis, R. and Freeth, M. orcid.org/0000-0003-0534-9095 (2020) Views of adults with 22q11 deletion syndrome on reproductive choices. American Journal of Medical Genetics Part A, 182 (5). pp. 1284-1287. ISSN 1552-4825

McNeill, A. (2019) Movement disorders in adults with 22q11 deletion syndrome. Movement Disorders Clinical Practice, 6 (4). p. 339. ISSN 2330-1619

McNeill, A. (2019) Editorial for Brain Sciences Special Issue: "Diagnosis of Neurogenetic Disorders: Contribution of Next-Generation Sequencing and Deep Phenotyping". Brain Sciences, 9 (3). 72. ISSN 2076-3425

Zawerton, A., Yao, B., Yeager, J.P. et al. (13 more authors) (2019) De Novo SOX4 variants cause a neurodevelopmental disease associated with mild dysmorphism. The American Journal of Human Genetics, 104 (2). pp. 246-259. ISSN 0002-9297

McNeill, A. (2018) Are congenital anomalies of the kidney and urinary tract part of the SOX11 syndrome? Kidney international, 94 (4). pp. 826-827. ISSN 0085-2538

Ratschen, E., Thorley, R., Jones, L. et al. (6 more authors) (2018) A randomised controlled trial of a complex intervention to reduce children’s exposure to secondhand smoke in the home. Tobacco Control, 27 (2). pp. 155-162. ISSN 0964-4563

Buckley, E. orcid.org/0000-0002-0968-6286, Mazzà, C. orcid.org/0000-0002-5215-1746 and McNeill, A. (2018) A systematic review of the gait characteristics associated with Cerebellar Ataxia. Gait & Posture, 60. pp. 154-163. ISSN 0966-6362

Blanchet, P., Bebin, M., Bruet, S, et al. (16 more authors) (2017) MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus. PLoS Genetics, 13 (8). e1006957. ISSN 1553-7390

Buckley, E., Siddique, A. and McNeill, A. (2017) Hyposmia, symptoms of REM sleep behavior disorder and Parkinsonian motor signs suggests prodromal neurodegeneration in 22q11 deletion syndrome. NeuroReport, 28 (11). pp. 677-681. ISSN 0959-4965

Siddique, A., Willoughby, J. and McNeill, A. (2017) A 7q21.11 microdeletion presenting with apparent intellectual disability without epilepsy. American Journal of Medical Genetics Part A, 173 (4). pp. 1128-1130. ISSN 1552-4825

Hempel, A., Pagnamenta, A. T., Blyth, M. et al. (18 more authors) (2016) Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. Journal of Medical Genetics, 53 (3). pp. 152-162. ISSN 0022-2593

Kilpatrick, B.S., Magalhaes, J., Beavan, M.S. et al. (8 more authors) (2016) Endoplasmic reticulum and lysosomal Ca2+ stores are remodelled in GBA1-linked Parkinson disease patient fibroblasts. Cell Calcium, 59 (1). pp. 12-20. ISSN 0143-4160

Zokaei, N., McNeill, A., Proukakis, C. et al. (8 more authors) (2014) Visual short-term memory deficits associated with GBA mutation and Parkinson's disease. Brain, 137 (8). pp. 2301-2311. ISSN 0006-8950

Vaduvescu, O., Hudin, L., Mocnik, T. et al. (80 more authors) 280 one-opposition near-Earth asteroids recovered by the EURONEAR with the Isaac Newton Telescope.

Book Section

McNeill, A. and Chinnery, P.F. (2011) Neurodegeneration with brain iron accumulation. In: Handbook of Clinical Neurology. Elsevier , pp. 161-172. ISBN 978-0-444-52014-2