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Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

Zimoń, Magdalena ; Baets, Jonathan ; Auer-Grumbach, Michaela ; Berciano, José ; Garcia, Antonio ; Lopez-Laso, Eduardo ; Merlini, Luciano ; Hilton-Jones, David ; McEntagart, Meriel ; Crosby, Andrew H. ; Barisic, Nina ; Boltshauser, Eugen ; Shaw, Christopher E. ; Landouré, Guida ; Ludlow, Christy L. ; Gaudet, Rachelle ; Houlden, Henry ; Reilly, Mary M. ; Fischbeck, Kenneth H. ; Sumner, Charlotte J. ; Timmerman, Vincent ; Jordanova, Albena ; Jonghe, Peter De

In: Brain, 2010, vol. 133, no. 6, p. 1798-1809