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2 results 1
Postprint
Consortium of Swiss Academic Libraries

Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity

Ernst, Daniela ; Murphy, Sinéad ; Sathiyanadan, Karthik ; Wei, Yu ; Othman, Alaa ; Laurá, Matilde ; Liu, Yo-Tsen ; Penno, Anke ; Blake, Julian ; Donaghy, Michael ; Houlden, Henry ; Reilly, Mary ; Hornemann, Thorsten

In: NeuroMolecular Medicine, 2015, vol. 17, no. 1, p. 47-57

Postprint
Consortium of Swiss Academic Libraries

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

2 results 1
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