المؤلفون: Hisham Hamdalla, Anna Richardson, Jennifer C. Thompson, Amina Chaouch, Matthew Jones, Daniel Blackburn, Claire Gall, Julie S. Snowden, Jennifer A. Saxon, Tobias Langheinrich, Tahir Majeed, Jennifer M. Harris, Carolyn A Young, John Ealing

المصدر: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Amyotrophic Lateral Sclerosis, Cognition, Neuropsychological Tests, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Neurology, Frontotemporal Dementia, mental disorders, Cognitive screening, medicine, Humans, Neurology (clinical), Amyotrophic lateral sclerosis, Cognition Disorders, business, Motor neurone disease, 030217 neurology & neurosurgery, Frontotemporal dementia

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03c74c21ba68f814e3070528f057b1dfTest
https://doi.org/10.1080/21678421.2020.1797090Test

المؤلفون: D. Gareth Evans, K Joshi George, John Ealing, Emma Burkitt Wright, Calvin Soh, Konstantina Karabatsou, Carlos M. Curtis-Lopez, Grace Vassallo

المصدر: Journal of Clinical Neuroscience. 77:98-105

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Neurofibromatosis 1, Neurofibromatoses, Nerve root, Scoliosis, Spinal Curvatures, Lesion, 03 medical and health sciences, 0302 clinical medicine, Physiology (medical), Humans, Medicine, Spinal Cord Neoplasms, Neurofibromatosis, Retrospective Studies, Neurological deficit, Retrospective review, Neurofibroma, business.industry, Incidence, Dural ectasia, General Medicine, Middle Aged, medicine.disease, Spine, United Kingdom, nervous system diseases, Neurology, 030220 oncology & carcinogenesis, Spinal deformity, Female, Surgery, Neurology (clinical), Radiology, medicine.symptom, Spinal Nerve Roots, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::994de06838d49ad1a576081fa5edca1aTest
https://doi.org/10.1016/j.jocn.2020.05.014Test

المؤلفون: Usman Javaid, Ahmed Al-Sharefi, R. A. James, Peter Truran, Lauren Lewis, John Ealing, Fiona Cains, Shafie Kamaruddin, Sath Nag, Petros Perros, Kamal Abouglila

المصدر: European Endocrinology

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Urinary system, phaeochromocytoma, 030209 endocrinology & metabolism, adverse outcomes, Disease, 030204 cardiovascular system & hematology, Asymptomatic, 03 medical and health sciences, paraganglioma, 0302 clinical medicine, Endocrinology, Paraganglioma, medicine, Neurofibromatosis, Endocrine and Autonomic Systems, business.industry, Incidence (epidemiology), screening, Retrospective cohort study, Metanephrines, medicine.disease, Neuroendocrine Tumours, medicine.symptom, business, Neurofibromatosis-1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98647e52cafe574c22240ebaec588b05Test
http://europepmc.org/articles/PMC6785954Test

المؤلفون: R J Mills, Carolyn A Young, Tahir Majeed, Tim Williams, John Ealing, Christopher J McDermott, Rhys C. Roberts, Ammar Al-Chalabi, Alan Tennant

المصدر: Amyotrophic lateral sclerosisfrontotemporal degeneration. 23(5-6)

مصطلحات موضوعية: medicine.medical_specialty, Anxiety, Quality of life, medicine, Effective treatment, Humans, Amyotrophic lateral sclerosis, Depressive symptoms, Depression (differential diagnoses), Fatigue, Rasch model, business.industry, Depression, Amyotrophic Lateral Sclerosis, medicine.disease, humanities, respiratory tract diseases, Dyspnea, Neurology, Respiratory failure, Physical therapy, Quality of Life, Neurology (clinical), medicine.symptom, business, Respiratory Insufficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b43393e1c1d70fb80110ebf0a3be7fedTest
https://pubmed.ncbi.nlm.nih.gov/34709092Test

المؤلفون: George J Burghel, Bronwyn Kerr, Sanjeev S. Bhaskar, John Ealing, Helen Kingston, Claire Kyle, Iain A. Bruce, Helen M. Stuart, Graeme C.M. Black, Algy Taylor, Elizabeth A. Jones, Siddharth Banka, Abigail Rousseau, Suresh Somarathi, D A Gokhale, Emma Burkitt-Wright, Jamie M Ellingford, Laura Dutton, Kate Chandler, Sofia Douzgou, Leslie P Molina-Ramírez, Ronnie Wright, Adele Fairclough, William G. Newman, Tracy A Briggs, Harriet Jackson, Christopher J. Campbell, Jill Clayton-Smith

المصدر: Molina-Ramírez, L P, Kyle, C, Ellingford, J M, Wright, R, Taylor, A, Bhaskar, S S, Campbell, C, Jackson, H, Fairclough, A, Rousseau, A, Burghel, G J, Dutton, L, Banka, S, Briggs, T A, Clayton-Smith, J, Douzgou, S, Jones, E A, Kingston, H M, Kerr, B, Ealing, J, Somarathi, S, Chandler, K E, Stuart, H M, Burkitt-Wright, E M, Newman, W G, Bruce, I A, Black, G C & Gokhale, D 2021, ' Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2020-107303Test

مصطلحات موضوعية: Proband, Pediatrics, medicine.medical_specialty, Genomics, Workload, medical, 03 medical and health sciences, Rare Diseases, Gene panel, Intellectual disability, Exome Sequencing, Genetics, medicine, genomics, Humans, Exome, genetics, Genetics (clinical), Exome sequencing, 030304 developmental biology, Retrospective Studies, 0303 health sciences, business.industry, 030305 genetics & heredity, medicine.disease, Gene selection, business, Rare disease, early diagnosis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0067003e93ee1155e5c058f3e4351b47Test
https://pure.manchester.ac.uk/ws/files/194448392/jmedgenet_2020_107303.full.pdfTest

المؤلفون: John Ealing, Calvin Soh, David Gosal, Daniel du Plessis, Subodh Patil, K. Joshi George, Vanisha Chauhan, Tanvir Hasan

المصدر: Surgical Neurology International

مصطلحات موضوعية: Chronic inflammatory demyelinating polyradiculoneuropathy, Pathology, medicine.medical_specialty, Cord, Nerve root, Sural nerve, Case Report, Hypertrophic neuropathy, Lower motor neuron, Neurofibromatosis, 03 medical and health sciences, 0302 clinical medicine, Spinal cord compression, medicine, 030212 general & internal medicine, Charcot-marie-tooth disease, business.industry, Polyradiculoneuropathy, Spinal cord, medicine.disease, medicine.anatomical_structure, Surgery, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4cd66b8bd220d6d76545194286df986Test
http://europepmc.org/articles/PMC8053436Test

المؤلفون: Patrick Shenjere, Richard W. Whitehouse, Naomi L. Bowers, James P Wylie, Judith Eelloo, Noel W. Clarke, Miriam J. Smith, D. Gareth Evans, Anthony J. Freemont, Chris Duff, Calvin Soh, Paul Hulse, John Ealing, Mark Jones

المصدر: Eelloo, J, Smith, M J, Bowers, N, Ealing, J, Hulse, P, Wylie, J, Shenjere, P, Clarke, N, Soh, C, Whitehouse, R, Jones, M, Duff, C J, Freemont, T & Evans, D G 2019, ' Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant ', Familial Cancer . https://doi.org/10.1007/s10689-019-00138-4Test

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, medicine.medical_specialty, Horner Syndrome, Skin Neoplasms, Neurofibromatoses, SMARCB1, 030105 genetics & heredity, Schwannoma, Follicular lymphoma, Neoplasms, Multiple Primary, Lesion, 03 medical and health sciences, 0302 clinical medicine, MPNST, Biopsy, Genetics, Atypia, Humans, Medicine, Neurofibroma, Retroperitoneal Neoplasms, Neurofibromatosis, Schwannomatosis, Genetics (clinical), medicine.diagnostic_test, business.industry, Malignancy, SMARCB1 Protein, Middle Aged, medicine.disease, Abdominal mass, Neurofibromatosis type 2, Oncology, Neurofibrosarcoma, 030220 oncology & carcinogenesis, Female, Radiology, medicine.symptom, Hemangioma, business, Neurilemmoma, Neurofibromatosis type 1

وصف الملف: application/msword

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9808eabe966e67c37c5ed86b9d507cf4Test
https://doi.org/10.1007/s10689-019-00138-4Test

المؤلفون: Calvin Soh, K Joshi George, Mueez Waqar, Konstantina Karabatsou, John Ealing, Susan M Huson, D. Gareth Evans

المصدر: Journal of Neurosurgery: Spine. 30:126-132

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Neurofibromatosis 1, Cord, Adolescent, Nerve root, Spinal neurofibromas, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Neurofibroma, In patient, Spinal canal, Spinal Cord Neoplasms, Neurofibromatosis, Spinal imaging, business.industry, General Medicine, medicine.disease, Magnetic Resonance Imaging, Spine, Phenotype, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Female, Radiology, business, Spinal Cord Compression, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87ff7424fed291d5c559f12555f259a2Test
https://doi.org/10.3171/2018.7.spine171340Test

المؤلفون: Robert Swingler, Nigel Leigh, Christine Weaver, Nigel Stallard, Amina Chaouch, Dawn Lyle, Francisco Javier Carod-Artal, Suvankar Pal, Richard A Parker, Ian Morrison, Hisham Hamdalla, Amy Stenson, Pablo Garcia Reitboeck, Jenny Preston, Venkataramanan Srinivasan, Ashwin Pinto, Judith Newton, Stella A. Glasmacher, Arpan R Mehta, Rachel Dakin, Callum Duncan, Aleksandar Radunovic, Siddharthan Chandran, Richard Davenport, Jeremy Chataway, Elizabeth Elliott, Maria Stavrou, John Ealing, Tim Williams, Jenna M. Gregory, George Gorrie, Mahesh K. B. Parmar, Charis Wong, Emily Beswick, Jill M Williamson, Danielle Leighton, Christopher J. Weir, Malcolm R. Macleod, Peter J. Connelly

المصدر: Brain Communications
Wong, C, Stavrou, M, Elliott, L, Gregory, J, Leigh, P N, Pinto, A, Williams, T, Chataway, J, Swingler, R, Parmar, M K B, Stallard, N, Weir, C J, Parker, R A, Chaouch, A, Hamdalla, H, Ealing, J, Gorrie, G, Morrison, I, Duncan, C, Connelly, P, Javier Carod-Artal, F, Davenport, R, Reitboeck, P G, Radunovic, A, Srinivasan, V, Preston, J, Mehta, A, Leighton, D, Glasmacher, S, Beswick, E, Williamson, J, Stenson, A, Weaver, C, Newton, J, Lyle, D, Dakin, R S, MacLeod, M, Pal, S & Chandran, S 2021, ' Clinical trials in amyotrophic lateral sclerosis : a systematic review and perspective ', Brain Communications, vol. 3, no. 4 . https://doi.org/10.1093/braincomms/fcab242Test, https://doi.org/10.1093/braincomms/fcab242Test

مصطلحات موضوعية: medicine.medical_specialty, amyotrophic lateral sclerosis, clinical trials, Drug trial, AcademicSubjects/SCI01870, Perspective (graphical), General Engineering, Outcome measures, perspective, methodology, Disease, Review Article, medicine.disease, Clinical trial, systematic review, medicine, AcademicSubjects/MED00310, Amyotrophic lateral sclerosis, Intensive care medicine, RC

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91afba6db5d18614e79af23fbeb9ff09Test
https://pubmed.ncbi.nlm.nih.gov/34901853Test

المؤلفون: Simon R. Freeman, Owen M. Thomas, Claire Hartley, Chris Duff, Roger Laitt, Omar N. Pathmanaban, Miriam J. Smith, Andrew J Wallace, D. Gareth Evans, Simon K W Lloyd, Rosalie E. Ferner, John Ealing, Naomi L. Bowers, Scott A. Rutherford, Amy Taylor, Charlotte Hammerbeck-Ward, Dorothy Halliday, Mark Kellett, Simon Tobi, Andrew T. King, Elaine F. Harkness

المصدر: Evans, D G, Bowers, N L, Tobi, S, Hartley, C, Wallace, A J, King, A T, Lloyd, S K W, Rutherford, S A, Hammerbeck-Ward, C, Pathmanaban, O N, Freeman, S R, Ealing, J, Kellett, M, Laitt, R, Thomas, O, Halliday, D, Ferner, R, Taylor, A, Duff, C, Harkness, E F & Smith, M J 2018, ' Schwannomatosis: a genetic and epidemiological study ', Journal of Neurology, Neurosurgery and Psychiatry, vol. 89, no. 11, pp. 1215-1219 . https://doi.org/10.1136/jnnp-2018-318538Test

مصطلحات موضوعية: Adult, Male, Neurofibromatosis 2, Pediatrics, medicine.medical_specialty, Skin Neoplasms, Adolescent, Databases, Factual, Neurofibromatoses, Population, Prevalence, SMARCB1, Young Adult, 03 medical and health sciences, 0302 clinical medicine, vestibular schwannoma, Epidemiology, otorhinolaryngologic diseases, medicine, Humans, education, Schwannomatosis, Aged, Aged, 80 and over, schwannomatosis, Neurofibromin 2, education.field_of_study, business.industry, Incidence, Incidence (epidemiology), Mean age, SMARCB1 Protein, Middle Aged, medicine.disease, Psychiatry and Mental health, England, 030220 oncology & carcinogenesis, Life expectancy, Female, Surgery, Neurology (clinical), LZTR1, business, Neurilemmoma, 030217 neurology & neurosurgery, Transcription Factors

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c29c0c07933bb46d6a6fcfe1285e610eTest
https://doi.org/10.1136/jnnp-2018-318538Test