Items where authors include "Hobson, E."

Article

Harris, E.L., Roy, V., Montagne, M. et al. (15 more authors) (2024) A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes. American Journal of Human Genetics, 111 (1). pp. 119-132. ISSN 0002-9297

Mohamed Abu Baker, A., Moore, H., Baster, K. orcid.org/0000-0002-8397-1499 et al. (4 more authors) (2023) Psychometric properties of LUN-MS: a new questionnaire to identify the unmet needs of people with multiple sclerosis. Advances in Rehabilitation Science and Practice, 12. ISSN 2753-6351

Rose, L. orcid.org/0000-0003-1700-3972, Thaventhiran, T., Hobson, E. et al. (10 more authors) (2023) Digital peer-to-peer support programme for informal caregivers of people living with motor neuron disease: study protocol for a multi-centre parallel group, single-blinded (outcome assessor) randomised controlled superiority trial. Trials, 24. 119. ISSN 1745-6215

Cole, J., Choudry, S., Kular, S. et al. (8 more authors) (2022) Monkeypox encephalitis with transverse myelitis in a female patient. The Lancet Infectious Diseases. ISSN 1473-3099

Helleman, J., Johnson, B., Holdom, C. et al. (12 more authors) (2022) Patient perspectives on digital healthcare technology in care and clinical trials for motor neuron disease : an international survey. Journal of Neurology, 269 (11). pp. 6003-6013. ISSN 0340-5354

Nair, K. orcid.org/0000-0002-4004-2315, Lee, M., Hobson, E. orcid.org/0000-0002-8497-2338 et al. (2 more authors) (2022) End-of-life care of people with long-term neurological conditions. Practical Neurology, 22 (5). pp. 385-391. ISSN 1474-7758

Knox, L. orcid.org/0000-0003-2545-1046, McDermott, C. orcid.org/0000-0002-1269-9053 and Hobson, E. orcid.org/0000-0002-8497-2338 (2022) Telehealth in long-term neurological conditions : the potential, the challenges and the key recommendations. Journal of Medical Engineering & Technology, 46 (6). pp. 506-517. ISSN 0309-1902

van Eijk, R.P.A., Beelen, A., Kruitwagen, E.T. et al. (16 more authors) (2021) A road map for remote digital health technology for motor neuron disease. Journal of Medical Internet Research, 23 (9). e28766. ISSN 1438-8871

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Hobson, E., Skae, M. et al. (2 more authors) (2019) Developing pathways to clarify pathogenicity of unclassified variants in osteogenesis imperfecta genetic analysis. Molecular Genetics & Genomic Medicine, 7 (12). e912.

Hobson, E. orcid.org/0000-0002-8497-2338, Baird, W. orcid.org/0000-0002-4253-2721, Bradburn, M. orcid.org/0000-0002-3783-9761 et al. (6 more authors) (2019) Process evaluation and exploration of telehealth in motor neuron disease in a UK specialist centre. BMJ Open, 9. e028526.

O'Brien, D., Stavroulakis, T., Baxter, S. orcid.org/0000-0002-6034-5495 et al. (8 more authors) (2019) The optimisation of non-invasive ventilation in amyotrophic lateral sclerosis : a systematic review. European Respiratory Journal, 54 (3). 1900261. ISSN 0903-1936

Baxter, S. orcid.org/0000-0002-6034-5495, Johnson, M. orcid.org/0000-0003-0850-234X, Clowes, M. orcid.org/0000-0002-5582-9946 et al. (7 more authors) (2019) Optimizing the noninvasive ventilation pathway for patients with amyotrophic lateral sclerosis/motor neuron disease: a systematic review. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 20 (7-8). pp. 461-472. ISSN 2167-8421

Waller, R. orcid.org/0000-0001-5815-8829, Goodall, E.F., Milo, M. et al. (8 more authors) (2017) Serum miRNAs miR-206, 143-3p and 374b-5p as potential biomarkers for amyotrophic lateral sclerosis (ALS). Neurobiology of Aging, 55. pp. 123-131. ISSN 0197-4580

McRae, J.F., Clayton, S., Fitzgerald, T.W. et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542 (7642). pp. 433-438. ISSN 0028-0836

Pollitt, R.C. orcid.org/0000-0002-8864-397X, Saraff, V., Dalton, A. et al. (10 more authors) (2016) Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations. American Journal of Medical Genetics Part A. ISSN 1552-4825

Akawi, N., McRae, J., Ansari, M. et al. (40 more authors) (2015) Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nature Genetics, 47 (11). pp. 1363-1369. ISSN 1061-4036

Nicholls, Z., Hobson, E., Martindale, J.A. et al. (1 more author) (2015) Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis. Practical Neurology, 15 (4). pp. 280-283. ISSN 1474-7758

Fitzgerald, T.W., Gerety, S.S., Jones, W.D. et al. (263 more authors) (2015) Large-scale discovery of novel genetic causes of developmental disorders. Nature, 519. pp. 223-228. ISSN 0028-0836