A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy
Diagnosis and classification of peripheral neuropathy (PN) is facilitated by nerve conduction (NC) studies. Here, Bjornsdottir et al. find a low-frequency PRPH splice-donor variant that associates with NC amplitude and neurological assessment of recalled PRPH variant carriers reveals increased risk...
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2019
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oai:doaj.org-article:b48e58526a4c485288a2ec34194ffc472021-12-02T15:35:18ZA PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy10.1038/s41467-019-09719-42041-1723https://doaj.org/article/b48e58526a4c485288a2ec34194ffc472019-04-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-09719-4https://doaj.org/toc/2041-1723Diagnosis and classification of peripheral neuropathy (PN) is facilitated by nerve conduction (NC) studies. Here, Bjornsdottir et al. find a low-frequency PRPH splice-donor variant that associates with NC amplitude and neurological assessment of recalled PRPH variant carriers reveals increased risk of a mild sensory-negative PN.Gyda BjornsdottirErna V. IvarsdottirKristbjorg BjarnadottirStefania BenonisdottirSandra Sif GylfadottirGudny A. ArnadottirRafn BenediktssonGisli Hreinn HalldorssonAnna HelgadottirAdalbjorg JonasdottirAslaug JonasdottirIngileif JonsdottirAnna Margret KristinsdottirOlafur Th. MagnussonGisli MassonPall MelstedThorunn RafnarAsgeir SigurdssonGunnar SigurdssonAstros SkuladottirValgerdur SteinthorsdottirUnnur StyrkarsdottirGudmundur ThorgeirssonGudmar ThorleifssonArnor VikingssonDaniel F. GudbjartssonHilma HolmHreinn StefanssonUnnur ThorsteinsdottirGudmundur L. NorddahlPatrick SulemThorgeir E. ThorgeirssonKari StefanssonNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-10 (2019) |
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DOAJ |
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EN |
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Science Q |
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Science Q Gyda Bjornsdottir Erna V. Ivarsdottir Kristbjorg Bjarnadottir Stefania Benonisdottir Sandra Sif Gylfadottir Gudny A. Arnadottir Rafn Benediktsson Gisli Hreinn Halldorsson Anna Helgadottir Adalbjorg Jonasdottir Aslaug Jonasdottir Ingileif Jonsdottir Anna Margret Kristinsdottir Olafur Th. Magnusson Gisli Masson Pall Melsted Thorunn Rafnar Asgeir Sigurdsson Gunnar Sigurdsson Astros Skuladottir Valgerdur Steinthorsdottir Unnur Styrkarsdottir Gudmundur Thorgeirsson Gudmar Thorleifsson Arnor Vikingsson Daniel F. Gudbjartsson Hilma Holm Hreinn Stefansson Unnur Thorsteinsdottir Gudmundur L. Norddahl Patrick Sulem Thorgeir E. Thorgeirsson Kari Stefansson A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy |
| description |
Diagnosis and classification of peripheral neuropathy (PN) is facilitated by nerve conduction (NC) studies. Here, Bjornsdottir et al. find a low-frequency PRPH splice-donor variant that associates with NC amplitude and neurological assessment of recalled PRPH variant carriers reveals increased risk of a mild sensory-negative PN. |
| format |
article |
| author |
Gyda Bjornsdottir Erna V. Ivarsdottir Kristbjorg Bjarnadottir Stefania Benonisdottir Sandra Sif Gylfadottir Gudny A. Arnadottir Rafn Benediktsson Gisli Hreinn Halldorsson Anna Helgadottir Adalbjorg Jonasdottir Aslaug Jonasdottir Ingileif Jonsdottir Anna Margret Kristinsdottir Olafur Th. Magnusson Gisli Masson Pall Melsted Thorunn Rafnar Asgeir Sigurdsson Gunnar Sigurdsson Astros Skuladottir Valgerdur Steinthorsdottir Unnur Styrkarsdottir Gudmundur Thorgeirsson Gudmar Thorleifsson Arnor Vikingsson Daniel F. Gudbjartsson Hilma Holm Hreinn Stefansson Unnur Thorsteinsdottir Gudmundur L. Norddahl Patrick Sulem Thorgeir E. Thorgeirsson Kari Stefansson |
| author_facet |
Gyda Bjornsdottir Erna V. Ivarsdottir Kristbjorg Bjarnadottir Stefania Benonisdottir Sandra Sif Gylfadottir Gudny A. Arnadottir Rafn Benediktsson Gisli Hreinn Halldorsson Anna Helgadottir Adalbjorg Jonasdottir Aslaug Jonasdottir Ingileif Jonsdottir Anna Margret Kristinsdottir Olafur Th. Magnusson Gisli Masson Pall Melsted Thorunn Rafnar Asgeir Sigurdsson Gunnar Sigurdsson Astros Skuladottir Valgerdur Steinthorsdottir Unnur Styrkarsdottir Gudmundur Thorgeirsson Gudmar Thorleifsson Arnor Vikingsson Daniel F. Gudbjartsson Hilma Holm Hreinn Stefansson Unnur Thorsteinsdottir Gudmundur L. Norddahl Patrick Sulem Thorgeir E. Thorgeirsson Kari Stefansson |
| author_sort |
Gyda Bjornsdottir |
| title |
A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy |
| title_short |
A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy |
| title_full |
A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy |
| title_fullStr |
A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy |
| title_full_unstemmed |
A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy |
| title_sort |
prph splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy |
| publisher |
Nature Portfolio |
| publishDate |
2019 |
| url |
https://doaj.org/article/b48e58526a4c485288a2ec34194ffc47 |
| work_keys_str_mv |
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