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De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

Journal of medical genetics, 2015-05, Vol.52 (5), p.330-337

2015

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A novel KCNA1 mutation causing episodic ataxia type I

Muscle & nerve, 2014-08, Vol.50 (2), p.289-291

2014

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Hypomagnesemia in Type 2 Diabetes: A Vicious Circle?

Diabetes (New York, N.Y.), 2016-01, Vol.65 (1), p.3-13

2016

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A molecular update on pseudohypoaldosteronism type II

American journal of physiology. Renal physiology, 2013-12, Vol.305 (11), p.F1513-F1520

2013

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Bone Resorption Inhibitor Alendronate Normalizes the Reduced Bone Thickness of TRPV5−/− Mice

Journal of bone and mineral research, 2008-11, Vol.23 (11), p.1815-1824

2008

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Shedding of klotho by ADAMs in the kidney

American journal of physiology. Renal physiology, 2015-08, Vol.309 (4), p.F359-F368

2015

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Identification of SLC41A3 as a novel player in magnesium homeostasis

Scientific reports, 2016-06, Vol.6 (1), p.28565-28565, Article 28565

2016

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Functionomics of NCC mutations in Gitelman syndrome using a novel mammalian cell-based activity assay

American journal of physiology. Renal physiology, 2016-12, Vol.311 (6), p.F1159-F1167

2016

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Calcium Absorption Across Epithelia

Physiological reviews, 2005-01, Vol.85 (1), p.373-422

2005

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The impact of formative testing on study behaviour and study performance of (bio)medical students: a smartphone application intervention study

BMC medical education, 2015-04, Vol.15 (1), p.72-72, Article 72

2015

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TRP channel-associated factors are a novel protein family that regulates TRPM8 trafficking and activity

The Journal of cell biology, 2015-01, Vol.208 (1), p.89-107

2015

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Aromatase Deficiency Causes Altered Expression of Molecules Critical for Calcium Reabsorption in the Kidneys of Female Mice

Journal of bone and mineral research, 2007-12, Vol.22 (12), p.1893-1902

2007

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Segmental transport of Ca^sup 2+^ and Mg^sup 2+^ along the gastrointestinal tract

American journal of physiology: Gastrointestinal and liver physiology, 2015-02, Vol.308 (3), p.G206

2015

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Insight into renal Mg2+ transporters

Current opinion in nephrology and hypertension, 2011-03, Vol.20 (2), p.169-176

2011

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Fluid shear stress increases transepithelial transport of Ca2+ in ciliated distal convoluted and connecting tubule cells

The FASEB journal, 2017-05, Vol.31 (5), p.1796-1806

2017

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P2X6 Knockout Mice Exhibit Normal Electrolyte Homeostasis

PloS one, 2016-06, Vol.11 (6), p.e0156803-e0156803

2016

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Structural analysis of calmodulin binding to ion channels demonstrates the role of its plasticity in regulation

Pflügers Archiv, 2013-11, Vol.465 (11), p.1507-1519

2013

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Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia

Nephrology, dialysis, transplantation, 2015-06, Vol.30 (6), p.952-957

2015

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PACSINs bind to the TRPV4 cation channel. PACSIN 3 modulates the subcellular localization of TRPV4

The Journal of biological chemistry, 2006-07, Vol.281 (27), p.18753-18762

2006

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Regulation of the epithelial calcium channel TRPV5 by extracellular factors

Current opinion in nephrology and hypertension, 2007-07, Vol.16 (4), p.319-324

2007

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Elucidation of the distal convoluted tubule transcriptome identifies new candidate genes involved in renal Mg^sup 2+^ handling

American journal of physiology. Renal physiology, 2013-12, Vol.305 (11), p.F1563

2013

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Recent advances in renal tubular calcium reabsorption

Current opinion in nephrology and hypertension, 2006-09, Vol.15 (5), p.524-529

2006

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Functional TRPV6 channels are crucial for transepithelial Ca^sup 2+^ absorption

American journal of physiology: Gastrointestinal and liver physiology, 2012-10, Vol.303 (7), p.G879

2012

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Novel molecular pathways in renal Mg2+ transport: a guided tour along the nephron

Current opinion in nephrology and hypertension, 2010-09, Vol.19 (5), p.456-462

2010

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Insight into the molecular regulation of the epithelial magnesium channel TRPM6

Current opinion in nephrology and hypertension, 2008-07, Vol.17 (4), p.373-378

2008

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De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

A novel KCNA1 mutation causing episodic ataxia type I

Hypomagnesemia in Type 2 Diabetes: A Vicious Circle?

A molecular update on pseudohypoaldosteronism type II

Bone Resorption Inhibitor Alendronate Normalizes the Reduced Bone Thickness of TRPV5−/− Mice

Shedding of klotho by ADAMs in the kidney

Identification of SLC41A3 as a novel player in magnesium homeostasis

Functionomics of NCC mutations in Gitelman syndrome using a novel mammalian cell-based activity assay

Calcium Absorption Across Epithelia

The impact of formative testing on study behaviour and study performance of (bio)medical students: a smartphone application intervention study

TRP channel-associated factors are a novel protein family that regulates TRPM8 trafficking and activity

Aromatase Deficiency Causes Altered Expression of Molecules Critical for Calcium Reabsorption in the Kidneys of Female Mice

Segmental transport of Ca^sup 2+^ and Mg^sup 2+^ along the gastrointestinal tract

Insight into renal Mg2+ transporters

Fluid shear stress increases transepithelial transport of Ca2+ in ciliated distal convoluted and connecting tubule cells

P2X6 Knockout Mice Exhibit Normal Electrolyte Homeostasis

Structural analysis of calmodulin binding to ion channels demonstrates the role of its plasticity in regulation

Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia

PACSINs bind to the TRPV4 cation channel. PACSIN 3 modulates the subcellular localization of TRPV4

Regulation of the epithelial calcium channel TRPV5 by extracellular factors

Elucidation of the distal convoluted tubule transcriptome identifies new candidate genes involved in renal Mg^sup 2+^ handling

Recent advances in renal tubular calcium reabsorption

Functional TRPV6 channels are crucial for transepithelial Ca^sup 2+^ absorption

Novel molecular pathways in renal Mg2+ transport: a guided tour along the nephron

Insight into the molecular regulation of the epithelial magnesium channel TRPM6

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