المؤلفون: Rachel S. Carling, Zoe Barclay, Nathan Cantley, Erin C. Emmett, Sarah L. Hogg, Yael Finezilber, Danja Schulenburg‐Brand, Elaine Murphy, Stuart J. Moat

المصدر: JIMD Reports, Vol 64, Iss 6, Pp 468-476 (2023)

مصطلحات موضوعية: DBS, dried blood spots, microsampling, phenylalanine, phenylketonuria, PKU, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/a601184a46e343198b164355d78c914c

المؤلفون: Bianca Panis, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Martijn C. G. J. Brouwers, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, Anibh M. Das, Didem Demirbas, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Adriana Pané, Sabrina Paci, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: classic galactosemia, brain, galactose, cognitive problems, neurodevelopment, movement disorders, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1355962/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/7beddebac074439492e10a7f8e3d6ca8

المؤلفون: William Goodison, Fred Baron, Coralie Seary, Elaine Murphy, Robin Lachmann, Valerie L. Stevenson

المصدر: JIMD Reports, Vol 63, Iss 1, Pp 11-18 (2022)

مصطلحات موضوعية: adrenomyeloneuropathy, foot drop, functional electrical stimulation, walking satisfaction, walking speed, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/207085bb29964dda8bfcbb5783337fdf

المؤلفون: Philip J. Hennis, Elaine Murphy, Rick I. Meijer, Robin H. Lachmann, Radha Ramachandran, Claire Bordoli, Gurinder Rayat, David J. Tomlinson

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: Skeletal muscle, Glycogen storage disease type IIIa, Maximum voluntary contraction, Aerobic capacity, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/c86d3665caab46428d8cf2f3b215a55c

المؤلفون: Maureen Cleary, James Davison, Rachel Gould, Tarekegn Geberhiwot, Derralynn Hughes, Jean Mercer, Alexandra Morrison, Elaine Murphy, Saikat Santra, James Jarrett, Swati Mukherjee, Karolina M. Stepien

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: Clinical outcomes, Elosulfase alfa, Enzyme replacement therapy, Managed access agreement, Mucopolysaccharidosis IVA, Patient-reported outcomes, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/f387368635b84fd3b2bca84b04dbd10b

المؤلفون: Charlotte Dawson, Radha Ramachandran, Samreen Safdar, Elaine Murphy, Orlando Swayne, Jonathan Katz, Philip N. Newsome, Tarekegn Geberhiwot

المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1732-1737 (2020)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/633b7f1459f543f580a3185384d87105

المؤلفون: Mark Johnson, BSc, MBChB, Elaine Murphy, MRCP, FRCPath, Amr Raheem, MB BCh, PhD, David Ralph, BSc, MS FRCS(Urol)

المصدر: Sexual Medicine, Vol 6, Iss 2, Pp 171-173 (2018)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2050116118300163; https://doaj.org/toc/2050-1161

URL الوصول: https://doaj.org/article/f92749220a4e45cb96ed925f3e856394

المؤلفون: Julian F Guest, Andy Ingram, Nadia Ayoub, Christian J Hendriksz, Elaine Murphy, Yusof Rahman, Patrick McKiernan, Helen Mundy, Patrick Deegan

المصدر: PLoS ONE, Vol 13, Iss 2, p e0191945 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5796723?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/43ebc73578ac475b9c6867c89becb963

المؤلفون: Sandra O'Connell, Gearóid ÓLaighin, Lisa Kelly, Elaine Murphy, Sorcha Beirne, Niall Burke, Orlaith Kilgannon, Leo R Quinlan

المصدر: PLoS ONE, Vol 11, Iss 5, p e0154956 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4864247?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/ffd193c667c845c4b1eca8867911569a

المؤلفون: Matthew Sowcik, Anthony C. Andenoro, Mindy McNutt, Susan Elaine Murphy

Resource Type: eBook.

الموضوعات: Business forecasting, Business planning, Management

Categories: BUSINESS & ECONOMICS / Organizational Behavior, BUSINESS & ECONOMICS / Management, BUSINESS & ECONOMICS / Management Science, BUSINESS & ECONOMICS / Industrial Management

المؤلفون: Philip J. Hennis (12027822), Elaine Murphy (2742586), Rick I. Meijer (12027825), Robin H. Lachmann (1964161), Radha Ramachandran (5700389), Claire Bordoli (12027828), Gurinder Rayat (12027831), David J. Tomlinson (10751723)

مصطلحات موضوعية: Medicine, Physiology, Ecology, Sociology, Mental Health, Computational Biology, Skeletal muscle, Glycogen storage disease type IIIa, Maximum voluntary contraction, Aerobic capacity

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Aerobic_capacity_and_skeletal_muscle_characteristics_in_glycogen_storage_disease_IIIa_an_observational_study/19102041

الاتاحة: https://doi.org/10.6084/m9.figshare.19102041.v1

المؤلفون: Maureen Cleary (10021985), James Davison (10021988), Rachel Gould (10021991), Tarekegn Geberhiwot (4391239), Derralynn Hughes (3097440), Jean Mercer (5759159), Alexandra Morrison (10021994), Elaine Murphy (2742586), Saikat Santra (1617250), James Jarrett (10021997), Swati Mukherjee (493224), Karolina M. Stepien (8845502)

مصطلحات موضوعية: Medicine, Pharmacology, Biotechnology, Sociology, Immunology, Mental Health, Hematology, Infectious Diseases, Computational Biology, Clinical outcomes, Elosulfase alfa, Enzyme replacement therapy, Managed access agreement, Mucopolysaccharidosis IVA, Patient-reported outcomes

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Impact_of_long-term_elosulfase_alfa_treatment_on_clinical_and_patient-reported_outcomes_in_patients_with_mucopolysaccharidosis_type_IVA_results_from_a_Managed_Access_Agreement_in_England/13627259

الاتاحة: https://doi.org/10.6084/m9.figshare.13627259.v1

المؤلفون: Angeliki Vakrinou, Elaine Murphy, Sanjay M. Sisodiya, Umesh Vivekananda, Simona Balestrini

المصدر: Journal of Neurology. 269:6395-6405

مصطلحات موضوعية: Adult, Observational Studies as Topic, Epilepsy, Neurology, Ammonia, Risk Factors, Valproic Acid, Humans, Hyperammonemia, Oxcarbazepine, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a10ccff3c75d73992ab2f74a1b708499
https://doi.org/10.1007/s00415-022-11304-7

المؤلفون: Patrick Murphy, Fay Williams, Indran Davagnanam, Edgar Chan, Elaine Murphy, Derralynn Hughes, Gabriella Quattrocchi, David J. Werring, Robin H. Lachman, Lisa Cipolotti

المصدر: Journal of Inherited Metabolic Disease. 45:782-795

مصطلحات موضوعية: Stroke, Case-Control Studies, Genetics, Fabry Disease, Humans, Cognitive Dysfunction, Neuropsychological Tests, Magnetic Resonance Imaging, White Matter, Genetics (clinical), Brain Ischemia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70be3f405e4120fe7e05327764b512c6
https://doi.org/10.1002/jimd.12472

المؤلفون: Charles Wade, Thomas Williams, Áine Merwick, Rebekah Ahmed, Justin Kinsella, Frederik Barkhof, Nevin John, Jason Warren, Catherine Mummery, Jonathon Schott, Wallace Brownlee, Matthew Adams, Indran Davagnanam, Henry Houlden, Elaine Murphy, David Lynch, Jeremy Chataway

المصدر: Wednesday, April 26.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c4e36dc0845530dba0f4ffd81cfb8dc6
https://doi.org/10.1212/wnl.0000000000202197

المؤلفون: Elaine Murphy

المصدر: New Zealand Journal of Ecology.

مصطلحات موضوعية: Ecology, Ecology, Evolution, Behavior and Systematics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b3abd14554138e28a2fd723f6415508c
https://doi.org/10.20417/nzjecol.47.3517

المؤلفون: Jian Peng Kieran Chen, Abigail Rees, Charles Hamish Coughlan, Will Goodison, Elaine Murphy, Arvind Chandratheva

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::11fac1030166cc002165326f750048ce
https://doi.org/10.21203/rs.3.rs-2560988/v1

المؤلفون: Mohamed Khalil, Blake Hale, Samuel Shribman, Elaine Murphy, Carla Cordivari

المصدر: Clinical Neurophysiology. 150:e182-e183

مصطلحات موضوعية: Neurology, Physiology (medical), Neurology (clinical), Sensory Systems

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::86d0df734b20d89a04d66285bf1c4b65
https://doi.org/10.1016/j.clinph.2023.03.327

المؤلفون: Wolfgang Köhler, Marc Engelen, Florian Eichler, Robin Lachmann, Ali Fatemi, Jacinda Sampson, Ettore Salsano, Josep Gamez, Maria Judit Molnar, Sílvia Pascual, Maria Rovira, Anna Vilà, Guillem Pina, Itziar Martín-Ugarte, Adriana Mantilla, Pilar Pizcueta, Laura Rodríguez-Pascau, Estefania Traver, Anna Vilalta, María Pascual, Marc Martinell, Uwe Meya, Fanny Mochel, Eavan Mc Govern, Elise Yazbeck, Magali Barbier, Marie-Pierre Luton, Françoise Pousset, Jean-Yves Hogrel, Isaac Adanyeguh, Florian Then Bergh, Caroline Bergner, Astrid Unterlauft, Hannes Roicke, Karl-Titus Hoffmann, Cordula Scherlach, Andrea Kalb, Bianca Meilick, Mandy Reuschel, Silvia Fenu, Elena Mauro, Elaine Murphy, Gauri Krishna, Tiggy Beyene, Alba Sierra, Sara Quiñoa, Anna Belen Canovas, Zoltan Grosz, Báthori Györgyi, S.I. van de Stadt, I.C. Huffnagel, W.J.C. van Ballegoij, M.M.C. Voermans, Reza Seyedsadjadi, Camille Corre, Neha Godbole, Natalie Rose Grant, Claudia Maria Brito Pires, Melissa Trovato, Nancy Yeh, Jordan Goodman, Jennifer Keller, Chris Joseph, Keith Van Haren, Sarada Sakamuri, Tina Duong, Lila Perrone, Stephanie Tran, Sally Dunaway Young, Syed Hashmi

المساهمون: Neurology, Paediatric Neurology, ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Paediatrics, Paediatric Pulmonology

المصدر: The Lancet Neurology, 22(2), 127-136. Lancet Publishing Group

مصطلحات موضوعية: Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb8695c85f230bdb0e4f78481480d58
https://pure.amc.nl/en/publications/safety-and-efficacy-of-leriglitazone-for-preventing-disease-progression-in-men-with-adrenomyeloneuropathy-advance(6d25a248-5b0d-4f76-b918-9f438ca0dcf9).html

المؤلفون: Terry Segal, Emma Harewood, Sara Stoneham, Sara Trompeter, Natalia Zarate-Lopez, Corinne Fisher, Elaine Murphy, Sara McCartney, Helen Simpson

المصدر: Poster.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1a70df77527121e4ff70fbb62413f4c1
https://doi.org/10.1136/bmjpo-2022-rcpch.56