Výsledky vyhledávání - "Judith, Eelloo"

Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1

Autor: Shruti Garg, Misty Bhandary, Gorana Pobric, Emily Pye, Jason R. Taylor, Emma Burkitt-Wright, Jonathan Green, Johan Hulleman, Hemavathy M Ramalingam, Grace Vassallo, Karolina Szumanska-Ryt, D. Gareth Evans, JeYoung Jung, Judith Eelloo, Louise Theodosiou, Louise Robinson

Publikováno v: Pobric, G, Taylor, J R, Ramalingam, H M, Pye, E, Robinson, L, Vassallo, G, Jung, J, Bhandary, M, Szumanska-ryt, K, Theodosiou, L, Evans, D G, Eelloo, J, Burkitt-wright, E, Hulleman, J, Green, J & Garg, S 2021, ' Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1 ', Journal of Autism and Developmental Disorders . https://doi.org/10.1007/s10803-021-05043-3

Neurofibromatosis 1 (NF1) is a single gene disorder associated with working Memory (WM) impairments. The aim of this study was to investigate P300 event-related potential (ERP) associated with WM in NF1. Sixteen adolescents with NF1 were compared wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a144875c8906a6688da289f75197dc7

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The skeletal muscle phenotype of children with Neurofibromatosis Type 1 - A clinical perspective

Autor: Amish, Chinoy, Grace R, Vassallo, Emma, Burkitt Wright, Judith, Eelloo, Siobhan, West, Eileen, Hupton, Paula, Galloway, Amy, Pilkington, Raja, Padidela, M Zulf, Mughal

Publikováno v: Journal of musculoskeletalneuronal interactions. 22(1)

Neurofibromatosis type 1 (NF1) can affect multiple systems in the body. An under recognised phenotype is one of muscle weakness. Clinical studies using dynamometry and jumping mechanography have demonstrated that children with NF1 are more likely to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::52eedc2189d7c7d513bc06199c391e2b
https://pubmed.ncbi.nlm.nih.gov/35234161

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Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018-2019

Autor: Yoshua Colyn Collins‐Sawaragi, Rosalie Ferner, Grace Vassallo, Germana De Agrò, Simon Eccles, Jill Cadwgan, Darren Hargrave, Eileen Hupton, Judith Eelloo, Lauren Lunt, Vivian Tang, Emma Burkitt Wright, Karine Lascelles

Publikováno v: American journal of medical genetics. Part AREFERENCES. 188(6)

We report on the location, symptoms, and management of plexiform neurofibroma (PN) in children with Neurofibromatosis Type 1 (NF1) attending the 2 National Complex Neurofibromatosis 1 Services at Guy's and St. Thomas' NHS Foundation Trust, London and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abcd58c8aefc150fb2f6c9b25becf532
https://pubmed.ncbi.nlm.nih.gov/35178860

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Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant

Autor: 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

Publikováno v: 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/s10689-019-00138-4

A 51-year old presented with a 6-month history of increasing pelvic/lower back pain with nocturnal waking and episodes of anorexia and vomiting. Examination revealed right torticollis and Horner’s syndrome, and a large abdominal mass arising from t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9808eabe966e67c37c5ed86b9d507cf4
https://doi.org/10.1007/s10689-019-00138-4

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Development of tibia & fibula bone deficits in children with neurofibromatosis type I – A longitudinal case-control comparison

Autor: Kate A Ward, Ann Prentice, M Zulf Mughal, Judith Eelloo, Amy Riddell, Alex Ireland

Publikováno v: Bone. 154:116183

Neurofibromatosis type 1 (NF1) is associated with lower bone mass and increased risk of fracture. Children with NF1 display faltering growth from mid-childhood. However, to date tibia bone development in children with NF1 across childhood and the rol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9537d1ebefc62302b05e77ec83271930
https://doi.org/10.1016/j.bone.2021.116183

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A retrospective regional study of aqueduct stenosis and fourth ventricle outflow obstruction in the paediatric complex neurofibromatosis type 1 population; Aetiology, clinical presentation and management

Autor: Eileen Hupton, Ian Kamaly-Asl, Lauren Lewis, Christopher Murphy, Grace Vassallo, Susan M Huson, Stavros Stivaros, Judith Eelloo, Emma Burkitt-Wright

Publikováno v: Clinical neurology and neurosurgery. 193

Objectives Aqueduct stenosis (AS) and fourth ventricle outflow obstruction are rare associations of neurofibromatosis type 1 (NF1), resulting in ventriculomegaly and hydrocephalus requiring surgical treatment. This study aims to identify the prevalen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05922127f149823625d77f88a0aefff7
https://pubmed.ncbi.nlm.nih.gov/32208299

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Perceived fatigue in children and young adults with neurofibromatosis type 1

Autor: Stephen A Roberts, Lauren Lewis, Stavros Stivaros, Judith Eelloo, Eileen Hupton, Grace Vassallo, Louise Robinson, Shruti Garg, Zulf Mughal, Daniel Weisberg, D. Gareth Evans, Emma Burkitt Wright

Publikováno v: Vassallo, G, Mughal, Z, Robinson, L, Weisberg, D, Roberts, S A, Hupton, E, Eelloo, J, Burkitt Wright, E M, Garg, S, Lewis, L, Evans, D G & Stivaros, S M 2020, ' Perceived fatigue in children and young adults with neurofibromatosis type 1 ', Journal of paediatrics and child health . https://doi.org/10.1111/jpc.14764

AimThis study describes the prevalence and severity of perceived fatigue in a young neurofibromatosis type 1 (NF1) population.MethodsEthical approval was obtained and NF1 affected Individuals aged 2–18 years from the Manchester's NF1 clinic invited

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c021862e7db4a39c660b3035c9f75ef4
https://pubmed.ncbi.nlm.nih.gov/31916647

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