Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Inherited polyneuropathy"'
Autor:
Kleita Michaelidou, Ioannis Tsiverdis, Sophia Erimaki, Dimitra Papadimitriou, Georgios Amoiridis, Alexandros Papadimitriou, Panayiotis Mitsias, Ioannis Zaganas
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Abstract Background Charcot–Marie–Tooth (CMT) hereditary polyneuropathies pose a diagnostic challenge. Our aim here is to describe CMT patients diagnosed by whole exome sequencing (WES) following years of fruitless testing. Methods/Results Three
Externí odkaz:
https://doaj.org/article/2ac3737e5acc46f4b300053d24abc3df
Autor:
Nicolas Granger, Alejandro Luján Feliu-Pascual, Charlotte Spicer, Sally Ricketts, Rebekkah Hitti, Oliver Forman, Joshua Hersheson, Henry Houlden
Publikováno v:
PeerJ, Vol 7, p e7983 (2019)
Background Charcot-Marie-Tooth (CMT) disease is the most common neuromuscular disorder in humans affecting 40 out of 100,000 individuals. In 2008, we described the clinical, electrophysiological and pathological findings of a demyelinating motor and
Externí odkaz:
https://doaj.org/article/9f6e8033e94d4942b625baab28368c84
Autor:
Georgios Amoiridis, Panayiotis Mitsias, Alexandros Papadimitriou, Dimitra Papadimitriou, Sophia Erimaki, Ioannis Tsiverdis, Ioannis Zaganas, Kleita Michaelidou
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Charcot–Marie–Tooth (CMT) hereditary polyneuropathies pose a diagnostic challenge. Our aim here is to describe CMT patients diagnosed by whole exome sequencing (WES) following years of fruitless testing. Methods/Results Three patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5156c2df8d8068fcae1b3b93f07cb314
https://doaj.org/article/2ac3737e5acc46f4b300053d24abc3df
https://doaj.org/article/2ac3737e5acc46f4b300053d24abc3df
Autor:
Rossella Cannarella, Sandro La Vignera, Giovanni Burgio, Rosita A. Condorelli, Aldo E. Calogero, Enzo Vicari
Publikováno v:
The Aging Male. 23:377-381
Charcot-Marie-Tooth (CMT) is the most common inherited polyneuropathy. Polyneuropathies are likely to affect the urogenital system. Urogenital dysfunction is rarely investigated and may be underestimated in CMT patients.The aim of the present study w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd584e721d91e805bdb74dfc96447b5a
https://doi.org/10.1080/13685538.2018.1491543
https://doi.org/10.1080/13685538.2018.1491543
Autor:
Joshua Hersheson, Henry Houlden, Alejandro Luján Feliu-Pascual, Oliver P. Forman, Rebekkah J. Hitti, Charlotte Spicer, Nicolas Granger, Sally L. Ricketts
Publikováno v:
PeerJ
PeerJ, Vol 7, p e7983 (2019)
PeerJ, Vol 7, p e7983 (2019)
BackgroundCharcot-Marie-Tooth (CMT) disease is the most common neuromuscular disorder in humans affecting 40 out of 100,000 individuals. In 2008, we described the clinical, electrophysiological and pathological findings of a demyelinating motor and s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b56de39130002787c59220677042bcb6
Publikováno v:
Muscle & Nerve. 55:316-322
Introduction In severely affected inherited polyneuropathy patients, primary demyelination can be difficult to determine by routine extremity limb nerve conduction studies (NCS). Blink reflexes may help classify severe polyneuropathies as either axon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6b5661fe810622fe65dc1778146d23f
https://doi.org/10.1002/mus.25250
https://doi.org/10.1002/mus.25250
Autor:
Andoni Echaniz-Laguna, Mathieu Anheim, O. Gebus, J.-B. Chanson, Christine Tranchant, Marie-Céline Fleury
Publikováno v:
European journal of neurology
European journal of neurology, 2018, 25 (11), pp.118-119. ⟨10.1111/ene.13767⟩
European journal of neurology, 2018, 25 (11), pp.118-119. ⟨10.1111/ene.13767⟩
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8752b530468ae9eb07c32a3d2037aaa
https://pubmed.ncbi.nlm.nih.gov/30306720
https://pubmed.ncbi.nlm.nih.gov/30306720
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