Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

OBJECTIVES: To describe the clinical and neurophysiologic patterns of patients with neuronal ceroid lipofuscinoses associated with CLN6 mutations. METHODS: We reviewed the features of 11 patients with different ages at onset. RESULTS: Clinical disease onset occurred within the first decade of life i...

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Bibliografiska uppgifter
I publikationen:Neurology
Huvudupphovsmän: Canafoglia, Laura, Gilioli, Isabella, Invernizzi, Federica, Sofia, Vito, Fugnanesi, Valeria, Morbin, Michela, Chiapparini, Luisa, Granata, Tiziana, Binelli, Simona, Scaioli, Vidmer, Garavaglia, Barbara, Nardocci, Nardo, Berkovic, Samuel F., Franceschetti, Silvana
Materialtyp: Artigo
Språk:Inglês
Publicerad: Lippincott Williams & Wilkins 2015
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4520821/
https://ncbi.nlm.nih.gov/pubmed/26115733
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001784
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