Miguel Van Bemmelen

Publications | Mémoires et thèses

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6 publications

2023 | 2022 | 2017 | 2015 | 2014 |
2023
 
A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene.
Efthymiadou A., Gautschi I., van Bemmelen M.X., Sertedaki A., Giannakopoulos A., Chrousos G., Schild L., Chrysis D., 2023/07/01. American journal of physiology. Endocrinology and metabolism, 325 (1) pp. E1-E9. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3BD1E0FEBF0F]
2022
 
The E3 ubiquitin-protein ligase Nedd4-2 regulates the sodium chloride cotransporter NCC but is not required for a potassium-induced reduction of NCC expression.
Rosenbaek L.L., Petrillo F., van Bemmelen M.X., Staub O., Murali S.K., Fenton R.A., 2022. Frontiers in physiology, 13 p. 971251. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7988A48D467A]
2017
 
A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome.
Salih M., Gautschi I., van Bemmelen M.X., Di Benedetto M., Brooks A.S., Lugtenberg D., Schild L., Hoorn E.J., 2017. Journal of the American Society of Nephrology, 28 (11) pp. 3291-3299. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D902F01DA761]
Proton and non-proton activation of ASIC channels.
Gautschi I., van Bemmelen M.X., Schild L., 2017. PloS one, 12 (4) pp. e0175293. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_CE061D1AF63A]
2015
The Human Acid-Sensing Ion Channel ASIC1a: Evidence for a Homotetrameric Assembly State at the Cell Surface.
van Bemmelen M.X., Huser D., Gautschi I., Schild L., 2015. Plos One, 10 (8) pp. e0135191. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_76090C0DECB0]
2014
 
Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.
García Segarra N., Gautschi I., Mittaz-Crettol L., Kallay Zetchi C., Al-Qusairi L., Van Bemmelen M.X., Maeder P., Bonafé L., Schild L., Roulet-Perez E., 2014. Journal of the Neurological Sciences, 342 (1-2) pp. 69-78. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_B4E051BFBF6E]
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