المؤلفون: Vishnu, Venugopalan Y, Lemmers, Richard JLF, Reyaz, Alisha, Mishra, Rinkle, Ahmad, Tanveer, van der Vliet, Patrick J, Kretkiewicz, Marcelina M, Macken, William L, Efthymiou, Stephanie, Dominik, Natalia, Morrow, Jasper M, Bhatia, Rohit, Wilson, Lindsay A, Houlden, Henry, Hanna, Michael G, Bugiardini, Enrico, van der Maarel, Silvere M, Srivastava, MV Padma

المصدر: european journal of human genetics (2024) (In press).

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, Genetics & Heredity, ACCURATE DIAGNOSIS, COPY NUMBER, D4Z4, PENETRANCE, MODIFIER, VARIANT, REPEAT, SMCHD1

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10191769/1/s41431-024-01577-z.pdf; https://discovery.ucl.ac.uk/id/eprint/10191769/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10191769/1/s41431-024-01577-z.pdf
https://discovery.ucl.ac.uk/id/eprint/10191769/

المؤلفون: Doherty, Carolynne M, Howard, Paige, O'Donnell, Luke F, Zuccarino, Riccardo, Wastling, Stephen, Milev, Evelin, Banks, Tina, Shah, Sachit, Zafeiropoulos, Nick, Stephens, Katherine J, Sarkozy, Anna, Grider, Tiffany, Feely, Shawna ME, Manzur, Adnan, Shy, Rosemary R, Skorupinska, Mariola, Pipis, Menelaos, Nicolaisen, Emma, McDowell, Amy, Dilek, Nuran, Rossor, Alexander M, Laura, Matilde, Clark, Christopher, Muntoni, Francesco, Thedens, Daniel, Thornton, John, Morrow, Jasper M, Shy, Michael E, Reilly, Mary M

المصدر: Annals of Neurology (2024) (In press).

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10191158/1/Quantitative%20Foot%20Muscle%20Magnetic%20Resonance%20Imaging%20Reliably%20Measures%20Disease.pdf; https://discovery.ucl.ac.uk/id/eprint/10191158/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10191158/1/Quantitative%20Foot%20Muscle%20Magnetic%20Resonance%20Imaging%20Reliably%20Measures%20Disease.pdf
https://discovery.ucl.ac.uk/id/eprint/10191158/

المؤلفون: O'Donnell, Luke F, Pipis, Menelaos, Thornton, John S, Kanber, Baris, Wastling, Stephen, McDowell, Amy, Zafeiropoulos, Nick, Laura, Matilde, Skorupinska, Mariola, Record, Christopher J, Doherty, Carolynne M, Herrmann, David N, Zetterberg, Henrik, Heslegrave, Amanda J, Laban, Rhiannon, Rossor, Alexander M, Morrow, Jasper M, Reilly, Mary M

مصطلحات موضوعية: Neuromuscular

وصف الملف: text/html

Relation: http://jnnp.bmj.com/cgi/content/short/95/6/500; http://dx.doi.org/10.1136/jnnp-2023-332454

الاتاحة: http://jnnp.bmj.com/cgi/content/short/95/6/500
https://doi.org/10.1136/jnnp-2023-332454

المؤلفون: Doherty, Carolynne M., Morrow, Jasper M., Zuccarino, Riccardo, Howard, Paige, Wastling, Stephen, Pipis, Menelaos, Zafeiropoulos, Nick, Stephens, Katherine J., Grider, Tiffany, Feely, Shawna M. E., Nopoulous, Peggy, Skorupinska, Mariola, Milev, Evelin, Nicolaisen, Emma, Dudzeic, Magdalena, McDowell, Amy, Dilek, Nuran, Muntoni, Francesco, Rossor, Alexander M., Shah, Sachit, Laura, Matilde, Yousry, Tarek A., Thedens, Daniel, Thornton, John, Shy, Michael E., Reilly, Mary M.

المساهمون: Muscular Dystrophy Association

المصدر: Annals of Clinical and Translational Neurology ; volume 11, issue 3, page 607-617 ; ISSN 2328-9503 2328-9503

الاتاحة: http://dx.doi.org/10.1002/acn3.51979
https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51979

المؤلفون: Doherty, Carolynne M., Howard, Paige, O'Donnell, Luke F., Zuccarino, Riccardo, Wastling, Stephen, Milev, Evelin, Banks, Tina, Shah, Sachit, Zafeiropoulos, Nick, Stephens, Katherine J., Sarkozy, Anna, Grider, Tiffany, Feely, Shawna M. E., Manzur, Adnan, Shy, Rosemary R., Skorupinska, Mariola, Pipis, Menelaos, Nicolaisen, Emma, McDowell, Amy, Dilek, Nuran, Rossor, Alexander M., Laura, Matilde, Clark, Christopher, Muntoni, Francesco, Thedens, Daniel, Thornton, John, Morrow, Jasper M., Shy, Michael E., Reilly, Mary M.

المساهمون: Muscular Dystrophy Association

المصدر: Annals of Neurology ; volume 96, issue 1, page 170-174 ; ISSN 0364-5134 1531-8249

الاتاحة: http://dx.doi.org/10.1002/ana.26934
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.26934

المؤلفون: O'Donnell, Luke F, Pipis, Menelaos, Thornton, John S, Kanber, Baris, Wastling, Stephen, McDowell, Amy, Zafeiropoulos, Nick, Laura, Matilde, Skorupinska, Mariola, Record, Christopher J, Doherty, Carolynne M, Herrmann, David N, Zetterberg, Henrik, Heslegrave, Amanda J, Laban, Rhiannon, Rossor, Alexander M, Morrow, Jasper M, Reilly, Mary M

المصدر: Journal of Neurology, Neurosurgery and Psychiatry (2023)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10184323/2/Zetterberg_ODonnell.pdf; https://discovery.ucl.ac.uk/id/eprint/10184323/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10184323/2/Zetterberg_ODonnell.pdf
https://discovery.ucl.ac.uk/id/eprint/10184323/

المؤلفون: Vivekanandam, Vinojini, Seutterlin, Karen, Matthews, Emma, Thornton, John, Jayaseelan, Dipa, Shah, Sachit, Morrow, Jasper M, Yousry, Tarek, Hanna, Michael G

المصدر: Muscle & Nerve (2023) (In press).

مصطلحات موضوعية: MRI, channelopathies, hyperkalemic, hypokalemic, periodic paralysis

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10174577/1/Muscle%20and%20Nerve%20-%202023%20-%20Vivekanandam.pdf; https://discovery.ucl.ac.uk/id/eprint/10174577/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10174577/1/Muscle%20and%20Nerve%20-%202023%20-%20Vivekanandam.pdf
https://discovery.ucl.ac.uk/id/eprint/10174577/

المؤلفون: Perry, Luke, Stimpson, Georgia, Singh, Leeha, Morrow, Jasper M, Shah, Sachit, Baranello, Giovanni, Muntoni, Francesco, Sarkozy, Anna

المصدر: Ann Clin Transl Neurol (2023)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10171470/1/Muscle%20magnetic%20resonance%20imaging%20involvement%20patterns%20in%20nemaline%20myopathies.pdf; https://discovery.ucl.ac.uk/id/eprint/10171470/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10171470/1/Muscle%20magnetic%20resonance%20imaging%20involvement%20patterns%20in%20nemaline%20myopathies.pdf
https://discovery.ucl.ac.uk/id/eprint/10171470/

المؤلفون: Salam, Sharfaraz, Morrow, Jasper M, Howard, Robin, Miller, James AL, Quinlivan, Ros M, Machado, Pedro M

المصدر: Clinical and Experimental Rheumatology , 41 (2) pp. 340-347. (2023)

مصطلحات موضوعية: Deglutition Disorders, Female, Humans, Macroglossia, Myositis, Inclusion Body, Phenotype

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10166614/1/Salam_article.pdf; https://discovery.ucl.ac.uk/id/eprint/10166614/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10166614/1/Salam_article.pdf
https://discovery.ucl.ac.uk/id/eprint/10166614/

المؤلفون: Sadjadi, Reza, Picher-Martel, Vincent, Morrow, Jasper M., Thedens, Daniel, DiCamillo, Paul A., McCray, Brett A., Pareyson, Davide, Herrmann, David N., Reilly, Mary M., Jun Li, Castro, Diana, Shy, Michael E.

المصدر: Neurology; 9/10/2024, Vol. 103 Issue 5, p1-8, 8p

المؤلفون: Elmansy, Mostafa, Morrow, Jasper M, Shah, Sachit, Fischmann, Arne, Wastling, Stephen, Reilly, Mary M, Hanna, Michael G, Helmy, Eman Mohamed, El-Essawy, Saleh Saleh, Thornton, John S, Yousry, Tarek A

المصدر: Muscle & Nerve , 66 (6) pp. 744-749. (2022)

مصطلحات موضوعية: Charcot–Marie–Tooth disease, inclusion body myositis, magnetic resonance imaging, magnetic resonance neurography, nerve enlargement

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10187184/1/Evidence%20of%20nerve%20hypertrophy%20in%20patients%20with%20inclusion%20body%20myositis%20on%20lower%20limb.pdf; https://discovery.ucl.ac.uk/id/eprint/10187184/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10187184/1/Evidence%20of%20nerve%20hypertrophy%20in%20patients%20with%20inclusion%20body%20myositis%20on%20lower%20limb.pdf
https://discovery.ucl.ac.uk/id/eprint/10187184/

المؤلفون: Bugiardini, Enrico, Nunes, Andreia M, Oliveira-Santos, Ariany, Dagda, Marisela, Fontelonga, Tatiana M, Barraza-Flores, Pamela, Pittman, Alan M, Morrow, Jasper M, Parton, Matthew, Houlden, Henry, Elliott, Perry M, Syrris, Petros, Maas, Roderick P, Akhtar, Mohammed M, Küsters, Benno, Raaphorst, Joost, Schouten, Meyke, Kamsteeg, Erik-Jan, van Engelen, Baziel, Hanna, Michael G, Phadke, Rahul, Lopes, Luis R, Matthews, Emma, Burkin, Dean J

المصدر: Journal of the American Heart Association Cardiovascular and Cerebrovascular Disease , Article e026494. (2022) (In press).

مصطلحات موضوعية: Cardiomyopathy, congenital muscular dystrophy, congenital myopathy, integrin α7

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10161319/1/JAHA.122.026494.pdf; https://discovery.ucl.ac.uk/id/eprint/10161319/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10161319/1/JAHA.122.026494.pdf
https://discovery.ucl.ac.uk/id/eprint/10161319/

المؤلفون: Guja, A, Morrow Jasper, M, Adnan, M, Roxana, G, Roberta, B, Eugenio, M, Reilly, MR, Francesco, M, Yousry, TA

المصدر: Neuromuscular Disorders , 32 (2) pp. 142-149. (2022)

مصطلحات موضوعية: MRI, distal myopathy, distal spinal muscular atrophy, early-onset

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10139082/1/1-s2.0-S0960896621006933-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10139082/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10139082/1/1-s2.0-S0960896621006933-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10139082/

المؤلفون: Morrow, Jasper M., Shah, Sachit, Cristiano, Lara, Evans, Matthew R. B., Doherty, Carolynne M., Alnaemi, Talal, Saab, Abeer, Emira, Ahmed, Klickovic, Uros, Hammam, Ahmed, Altuwaijri, Afnan, Wastling, Stephen, Reilly, Mary M., Hanna, Michael G., Yousry, Tarek A., Thornton, John S.

المصدر: European Radiology Experimental; 7/25/2024, Vol. 8 Issue 1, p1-12, 12p

مصطلحات موضوعية: INTER-observer reliability, MAGNETIC resonance imaging, NEUROMUSCULAR diseases, CALF muscles, TRAINING manuals, DIRECT instruction

المؤلفون: O'Donnell, Luke F., Pipis, Menelaos, Thornton, John S., Kanber, Baris, Wastling, Stephen, McDowell, Amy, Zafeiropoulos, Nick, Laura, Matilde, Skorupinska, Mariola, Record, Christopher J., Doherty, Carolynne M., Herrmann, David N., Zetterberg, Henrik, Heslegrave, Amanda J., Laban, Rhiannon, Rossor, Alexander M., Morrow, Jasper M., Reilly, Mary M.

المصدر: Journal of Neurology, Neurosurgery & Psychiatry; Jun2024, Vol. 95 Issue 6, p500-503, 4p

مصطلحات موضوعية: ARTIFICIAL neural networks, MAGNETIC resonance imaging, CONVOLUTIONAL neural networks

المؤلفون: D'Costa, Matthew Selwyn, Bugiardini, Enrico, Merve, Ashirwad, Morrow, Jasper M

المصدر: BMJ Case Reports ; volume 17, issue 3, page e259907 ; ISSN 1757-790X

الاتاحة: http://dx.doi.org/10.1136/bcr-2024-259907
https://syndication.highwire.org/content/doi/10.1136/bcr-2024-259907

المؤلفون: Scalco, Renata Siciliani, Morrow, Jasper M, Manole, Andreea, Skorupinska, Iwona, Ricciardi, Federico, Matthews, Emma, Hanna, Michael G, Fialho, Doreen

المصدر: Neuromuscular Disorders ; volume 35, page 33-38 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2023.12.015
https://api.elsevier.com/content/article/PII:S0960896623008465?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896623008465?httpAccept=text/plain

المؤلفون: Ribeiro, Ana, Suetterlin, Karen J., Skorupinska, Iwona, Tan, S. Veronica, Morrow, Jasper M., Matthews, Emma, Hanna, Michael G., Fialho, Doreen

المساهمون: Medical Research Council Canada, University College London Hospitals Biomedical Research Centre, Wellcome Trust

المصدر: Muscle & Nerve ; volume 65, issue 5, page 581-585 ; ISSN 0148-639X 1097-4598

الاتاحة: http://dx.doi.org/10.1002/mus.27465
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.27465
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mus.27465

المؤلفون: D’Costa, Matthew Selwyn, Bugiardini, Enrico, Merve, Ashirwad, Morrow, Jasper M

المصدر: BMJ Case Reports; Mar2024, Vol. 17 Issue 3, p1-4, 4p

المؤلفون: Pipis, Menelaos, Feely, Shawna ME, Polke, James M, Skorupinska, Mariola, Perez, Laura, Shy, Rosemary R, Laura, Matilde, Morrow, Jasper M, Moroni, Isabella, Pisciotta, Chiara, Taroni, Franco, Vujovic, Dragan, Lloyd, Thomas E, Acsadi, Gyula, Yum, Sabrina W, Lewis, Richard A, Finkel, Richard S, Herrmann, David N, Day, John W, Li, Jun, Saporta, Mario, Sadjadi, Reza, Walk, David, Burns, Joshua, Muntoni, Francesco, Ramchandren, Sindhu, Horvath, Rita, Johnson, Nicholas E, Züchner, Stephan, Pareyson, Davide, Scherer, Steven S, Rossor, Alexander M, Shy, Michael E, Reilly, Mary M, Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)

مصطلحات موضوعية: Charcot-Marie-Tooth Examination Score v2.0, Charcot-Marie-Tooth disease type 2A, genotype-phenotype correlations, mitofusin-2, standardized response mean, Adolescent, Adult, Age of Onset, Charcot-Marie-Tooth Disease, Child, Preschool, Cohort Studies, Disease Progression, Female, GTP Phosphohydrolases, Genes, Dominant, Recessive, Genetic Association Studies, Genetic Markers, Humans, Infant, Longitudinal Studies, Male, Mitochondrial Proteins, Neurologic Examination, Orthotic Devices, Prognosis, Prospective Studies, Wheelchairs

وصف الملف: Print; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/311582

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/311582
https://doi.org/10.17863/CAM.58674