Zobrazeno 1 - 10
of 165
pro vyhledávání: '"Matilde, Laura"'
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
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS
Autor:
Kayla M. D. Cornett, Manoj P. Menezes, Paula Bray, Rosemary R. Shy, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, Tim Estilow, Sabrina W. Yum, Trupti Bhandari, Francesco Muntoni, Matilde Laura, Mary M. Reilly, Richard S. Finkel, Katy J. Eichinger, David N. Herrmann, Michael E. Shy, Joshua Burns, CMTPedS Study Group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1713-1715 (2020)
Abstract The CMT Pediatric Scale (CMTPedS) is a reliable, valid, and responsive clinical outcome measure of disability in children with CMT. The aim of this study was to identify the most responsive patient subset(s), based on the standardized respon
Externí odkaz:
https://doaj.org/article/4e4fc26a6202461d90f33f1f848aad27
Autor:
Matilde Laura, Alexander M. Rossor, Robert W. Burgess, James N. Sleigh, Henny Wellington, Alexa Bacha, Reilly Mm, Mahima Kapoor, Shy Me, Amanda Heslegrave, Henrik Zetterberg, Xingyao Wu, Emily Spaulding
Publikováno v:
Journal of the Peripheral Nervous System. 27:50-57
Aims Advances in genetic technology and small molecule drug development have paved the way for clinical trials in Charcot-Marie-Tooth disease (CMT), however, the current FDA-approved clinical trial outcome measures are insensitive to detect a meaning
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5700ead345c7e2931f40b8c8440db0c3
https://doi.org/10.1111/jns.12477
https://doi.org/10.1111/jns.12477
Publikováno v:
Foot and Ankle Surgery. 27:865-868
Charcot Marie Tooth disease (CMT) is the most common inherited neuropathy and is also called Hereditary Motor Sensory Neuropathy (HMSN). Whilst both motor and sensory deficits are present, motor deficits tend to predominate over sensory deficits. Cha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2f3697d308bd840c92b2a9627156d43
https://doi.org/10.1016/j.fas.2020.11.005
https://doi.org/10.1016/j.fas.2020.11.005
Autor:
Luke Francis O'Donnell, Andrea Cortese, Alexander M Rossor, Matilde Laura, Julian Blake, Mariola Skorupinska, Michael P Lunn, John S Thornton, Riccardo Currò, Jasper M Morrow, Mary M Reilly
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 94:88-90
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8c12a21e92569172a9beddba0e69e8f
https://doi.org/10.1136/jnnp-2022-329432
https://doi.org/10.1136/jnnp-2022-329432
Autor:
Emilia Bellone, Paola Mandich, Stefano Facchini, Giuseppe Cosentino, Anna Pichiecchio, Chiara Briani, Stefano Tozza, Enrico Marchioni, Lucio Santoro, Francesca Magrinelli, Stephanie Efthymiou, Aisling Carr, Marios Hadjivassiliou, Enrico Alfonsi, Chiara Gemelli, Natalia Dominik, Henry Houlden, Matilde Laura, Silvia Colnaghi, Enza Maria Valente, Mary M. Reilly, Alexander M. Rossor, Simone Gana, Pietro Businaro, Cristina Tassorelli, Adolfo M. Bronstein, Elisa Vegezzi, Marina Grandis, Diego Kaski, Elena Pegoraro, Nicholas J. Beauchamp, Riccardo Currò, Alessandro Salvalaggio, Francesca Castellani, Angelo Schenone, Hadi Manji, Valentina Galassi Deforie, Ilaria Callegari, Michael P. Lunn, Andrea Cortese, Fiore Manganelli
Publikováno v:
Brain
After extensive evaluation, one-third of patients affected by polyneuropathy remain undiagnosed and are labelled as having chronic idiopathic axonal polyneuropathy, which refers to a sensory or sensory-motor, axonal, slowly progressive neuropathy of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b35b0fe382f6f9724febc873e2ca4901
https://doi.org/10.1093/brain/awab072
https://doi.org/10.1093/brain/awab072
Autor:
Christopher J Record, Menelaos Pipis, Julian Blake, Riccardo Curro, Michael P Lunn, Alexander M Rossor, Matilde Laura, Andrea Cortese, Mary M Reilly
Publikováno v:
Journal of the peripheral nervous system : JPNS. 27(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48082a10ec26d066cec4d3aae0ed7eb2
https://pubmed.ncbi.nlm.nih.gov/35224818
https://pubmed.ncbi.nlm.nih.gov/35224818
Autor:
Francesco Muntoni, Alberto A. Zambon, Matilde Laura, Matthew Pitt, James M. Polke, Mary M. Reilly
Publikováno v:
Journal of the Peripheral Nervous System. 25:303-307
Peripheral myelin protein 22 (PMP22) related neuropathies account for over 50% of inherited peripheral neuropathies. A gene copy variation results in CMT1A (duplication) and hereditary neuropathy with liability to pressure palsies (HNPP; single delet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::610500a85fa8d2749a94d25afc7c8956
https://doi.org/10.1111/jns.12386
https://doi.org/10.1111/jns.12386