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Author/Creator Frachon, Nadia

2. Analysis of CLCNKB mutations at dimer‐interface, calcium‐binding site, and pore reveals a variety of functional alterations in ClC‐Kb channel leading to Bartter syndrome. Issue 4 (24th December 2019)

Authors:
Bignon, Yohan; Sakhi, Imene; Bitam, Sara; Bakouh, Naziha; Keck, Mathilde; Frachon, Nadia; Paulais, Marc; Planelles, Gabrielle; Teulon, Jacques; Andrini, Olga
Journal:
Human mutation
Issue:
Volume 41:Issue 4(2020)
Page Start:
774
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Diversity of functional alterations of the ClC‐5 exchanger in the region of the proton glutamate in patients with Dent disease 1. Issue 5 (1st March 2021)

Authors:
Sakhi, Imène; Bignon, Yohan; Frachon, Nadia; Hureaux, Marguerite; Arévalo, Bárbara; González, Wendy; Vargas‐Poussou, Rosa; Lourdel, Stéphane
Journal:
Human mutation
Issue:
Volume 42:Issue 5(2021)
Page Start:
537
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. New insights into the role of endoplasmic reticulum‐associated degradation in Bartter Syndrome Type 1. Issue 8 (31st May 2021)

Authors:
Shaukat, Irfan; Bakhos‐Douaihy, Dalal; Zhu, Yingying; Seaayfan, Elie; Demaretz, Sylvie; Frachon, Nadia; Weber, Stefanie; Kömhoff, Martin; Vargas‐Poussou, Rosa; Laghmani, Kamel
Journal:
Human mutation
Issue:
Volume 42:Issue 8(2021)
Page Start:
947
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗