Zobrazeno 1 - 10 of 34 pro vyhledávání: '"Menelaos Pipis"'
1
Akademický článek
Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A
Autor: Carolynne M. Doherty, Jasper M. Morrow, Riccardo Zuccarino, Paige Howard, Stephen Wastling, Menelaos Pipis, Nick Zafeiropoulos, Katherine J. Stephens, Tiffany Grider, Shawna M. E. Feely, Peggy Nopoulous, Mariola Skorupinska, Evelin Milev, Emma Nicolaisen, Magdalena Dudzeic, Amy McDowell, Nuran Dilek, Francesco Muntoni, Alexander M. Rossor, Sachit Shah, Matilde Laura, Tarek A. Yousry, Daniel Thedens, John Thornton, Michael E. Shy, Mary M. Reilly
Publikováno v: Annals of Clinical and Translational Neurology, Vol 11, Iss 3, Pp 607-617 (2024)
Abstract Objective With potential therapies for many forms of Charcot‐Marie‐Tooth disease (CMT), responsive outcome measures are urgently needed for clinical trials. Quantitative lower limb MRI demonstrated progressive calf intramuscular fat accu
Externí odkaz: https://doaj.org/article/b655160e70c64a5fac42d356158f7451
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2
Akademický článek
Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders
Autor: Jonathan Gilley, Oscar Jackson, Menelaos Pipis, Mehrdad A Estiar, Ammar Al-Chalabi, Matt C Danzi, Kristel R van Eijk, Stephen A Goutman, Matthew B Harms, Henry Houlden, Alfredo Iacoangeli, Julia Kaye, Leandro Lima, Queen Square Genomics, John Ravits, Guy A Rouleau, Rebecca Schüle, Jishu Xu, Stephan Züchner, Johnathan Cooper-Knock, Ziv Gan-Or, Mary M Reilly, Michael P Coleman
Publikováno v: eLife, Vol 10 (2021)
SARM1, a protein with critical NADase activity, is a central executioner in a conserved programme of axon degeneration. We report seven rare missense or in-frame microdeletion human SARM1 variant alleles in patients with amyotrophic lateral sclerosis
Externí odkaz: https://doaj.org/article/983da56b2cb8455c8e30f44db1e45752
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4
A Novel approach using O-CVP to treat paraneoplastic NMO spectrum disorder associated with follicular lymphoma
Autor: David Antony Palmer, Hannah Dooley, Menelaos Pipis, Piers Patten, Eli Silber
Publikováno v: BMJ case reports. 15(11)
Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune neuroinflammatory disorder of the central nervous system that very rarely may be a paraneoplastic phenomenon. We describe the case of a woman with a longitudinally extensive transverse m
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68cd1a421e3e7483e6d1399787b2b4f2
https://pubmed.ncbi.nlm.nih.gov/36379621
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7
Advancing Charcot-Marie-Tooth disease diagnostics, through the UK 100,000 Genomes Project
Autor: Henry Houlden, Menelaos Pipis, Mary M. Reilly
Publikováno v: Medizinische Genetik. 32:227-231
Whole genome sequencing (WGS) is regarded by many as the pinnacle of contemporary molecular genetic testing, and has only been possible because of the rapid development and roll-out of next-generation sequencing technologies. It provides a phenotype-
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4b29fd5609076d96c051aca7c10fbca7
https://doi.org/10.1515/medgen-2020-2037
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8
Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders
Autor: Leandro Lima, Stephen A. Goutman, Oscar Jackson, Henry Houlden, Menelaos Pipis, Mehrdad Asghari Estiar, Ziv Gan-Or, Kristel R. van Eijk, Rebecca Schüle, Ammar Al-Chalabi, Julia Kaye, Mary M. Reilly, Matthew B. Harms, Stephan Züchner, John Ravits, Jishu Xu, Johnathan Cooper-Knock, Queen Square Genomics, Jonathan Gilley, Matt C. Danzi, Alfredo Iacoangeli, Michael P. Coleman, Guy A. Rouleau
Publikováno v: eLife, Vol 10 (2021)
eLife 10, e70905 (2021). doi:10.7554/eLife.70905
eLife
SARM1, a protein with critical NADase activity, is a central executioner in a conserved programme of axon degeneration. We report seven rare missense or in-frame microdeletion human SARM1 variant alleles in patients with amyotrophic lateral sclerosis
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::974b4c13efb4632c6d940a6b55aa0ddc
https://doi.org/10.7554/elife.70905
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9
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype
Autor: M Skorupinska, Guilhem Solé, Philippe Latour, Mary M. Reilly, Andrea Cortese, Tanya Stojkovic, Sachit Shah, Ki Wha Chung, Raul Juntas-Morales, Jana Vandrovcova, Byung-Ok Choi, Menelaos Pipis, Roy Poh, James M. Polke, Philippe Petiot, Matilde Laura, Alexander M. Rossor, Yves Fromes, Julian Blake, Arnaud Jacquier
Publikováno v: Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, 2021, jnnp-2021-327186. ⟨10.1136/jnnp-2021-327186⟩
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2021, jnnp-2021-327186. ⟨10.1136/jnnp-2021-327186⟩
ObjectiveNeurofilaments are the major scaffolding proteins for the neuronal cytoskeleton, and variants in NEFH have recently been described to cause axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC).MethodsIn this large observational study, we pre
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d319da7afd60ea990d61bdd8ccdc0dee
https://hal.sorbonne-universite.fr/hal-03353031/file/jnnp-2021-327186.full.pdf
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