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Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel.
Imbrici, Paola; Accogli, Andrea; Blunck, Rikard; Altamura, Concetta; Iacomino, Michele; D'adamo, Maria Cristina; Allegri, Anna; Pedemonte, Marina; Brolatti, Noemi; Vari, Stella; Cataldi, Matteo; Capra, Valeria; Gustincich, Stefano; Zara, Federico; Desaphy, Jean-Francois; Fiorillo, Chiara.
Affiliation
  • Imbrici P; Department of Pharmacy-Drug Sciences, University of Bari Aldo Moro, 70121 Bari, Italy.
  • Accogli A; Medical Genetics Unit, IRCCS Institute "G. Gaslini", 80131 Genoa, Italy.
  • Blunck R; Department of Physics, Université de Montréal, Montréal, QC H3C 3J7, Canada.
  • Altamura C; Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, 70121 Bari, Italy.
  • Iacomino M; Medical Genetics Unit, IRCCS Institute "G. Gaslini", 80131 Genoa, Italy.
  • D'adamo MC; Department of Physiology and Biochemistry, Faculty of Medicine and Surgery, University of Malta, MDS-2080 Msida, Malta.
  • Allegri A; Paediatric Endocrinology Unit, IRCCS Institute "G. Gaslini", 80131 Genoa, Italy.
  • Pedemonte M; Paediatric Neurology and Neuromuscular Disorders Unit, IRCCS Institute "G. Gaslini", 80131 Genoa, Italy.
  • Brolatti N; Paediatric Neurology and Neuromuscular Disorders Unit, IRCCS Institute "G. Gaslini", 80131 Genoa, Italy.
  • Vari S; Paediatric Neurology and Neuromuscular Disorders Unit, IRCCS Institute "G. Gaslini", 80131 Genoa, Italy.
  • Cataldi M; Neuropsychiatric Unit, IRCCS Institute "G. Gaslini", 80131 Genoa, Italy.
  • Capra V; Neurosurgery Unit, IRCCS Institute "G. Gaslini", 80131 Genoa, Italy.
  • Gustincich S; Department of Neuroscience and Brain Technologies, Istituto Italiano di Tecnologia, 80131 Genoa, Italy.
  • Zara F; Medical Genetics Unit, IRCCS Institute "G. Gaslini", 80131 Genoa, Italy.
  • Desaphy JF; Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, 70121 Bari, Italy.
  • Fiorillo C; Paediatric Neurology and Neuromuscular Disorders Unit, IRCCS Institute "G. Gaslini", 80131 Genoa, Italy.
Biomedicines ; 9(1)2021 Jan 14.
Article in En | MEDLINE | ID: mdl-33466780
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies / Risk_factors_studies Language: En Journal: Biomedicines Year: 2021 Document type: Article Affiliation country: Italy Country of publication: Switzerland
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies / Risk_factors_studies Language: En Journal: Biomedicines Year: 2021 Document type: Article Affiliation country: Italy Country of publication: Switzerland