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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Mutat
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2018
Gaiak:
Article
Sarrera elektronikoa: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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