HuGE Literature Finder
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| Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG). Cerebellum (London, England) 2021 2 20 (4): 596-605. Pettinato Fabio, Mostile Giovanni, Battini Roberta, Martinelli Diego, Madeo Annalisa, Biamino Elisa, Frattini Daniele, Garozzo Domenico, Gasperini Serena, Parini Rossella, Sirchia Fabio, Sortino Giuseppe, Sturiale Luisa, Matthijs Gert, Morrone Amelia, Di Rocco Maja, Rizzo Renata, Jaeken Jaak, Fiumara Agata, Barone Ri |
| Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies. Journal of medical genetics 2019 8 57 (1): 11-17. Chong Michael, Yoon Grace, Susan-Resiga Delia, Chamberland Ann, Cheillan David, Paré Guillaume, Seidah Nabil |
| A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. Journal of neurology 2015 Jan 262 (1): 154-64. Barone Rita, Carrozzi M, Parini R, Battini R, Martinelli D, Elia M, Spada M, Lilliu F, Ciana G, Burlina A, Leuzzi V, Leoni M, Sturiale L, Matthijs G, Jaeken J, Di Rocco M, Garozzo D, Fiumara |
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