Autosomal dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function

We describe progressive spastic paraparesis in two male siblings and the daughter of one of these individuals. Onset of disease occurred within the first decade, with stiffness and gait difficulties. Brisk deep tendon reflexes and extensor plantar responses were present, in the absence of intellectu...

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Bibliografiska uppgifter
I publikationen:Hum Mutat
Huvudupphovsmän: Ruaud, Lyse, Rice, Gillian I, Cabrol, Christelle, Piard, Juliette, Rodero, Mathieu, van Eyk, Lien, Boucher-Brischoux, Elise, de Noordhout, Alain Maertens, Maré, Ricardo, Scalais, Emmanuel, Pauly, Fernand, Debray, François-Guillaume, Dobyns, William, Uggenti, Carolina, Park, Ji Woo, Hur, Sun, Livingston, John H, Crow, Yanick J, Van Maldergem, Lionel
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2018
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6043383/
https://ncbi.nlm.nih.gov/pubmed/29782060
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23554
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