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CLCN1 gene

Known as: CLCN1, Thomsen disease, autosomal dominant, chloride voltage-gated channel 1 
 
National Institutes of Health

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Highly Cited
2007
Highly Cited
2007
In myotonic dystrophy (dystrophia myotonica [DM]), an increase in the excitability of skeletal muscle leads to repetitive action… Expand
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Highly Cited
2004
Highly Cited
2004
ABSTRACT Insertional mutagenesis was applied to Cryptococcus neoformans to identify genes associated with virulence attributes… Expand
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Highly Cited
2003
Highly Cited
2003
ClC-1 is a dimeric, double-pored chloride channel that is present in skeletal muscle. Mutations of this channel can result in the… Expand
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Review
2002
Review
2002
  • M. Pusch
  • Human mutation
  • 2002
  • Corpus ID: 41727736
Pure non‐syndromic, non‐dystrophic myotonia in humans is caused by mutations in the genes coding for the skeletal muscle sodium… Expand
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Highly Cited
1997
Highly Cited
1997
We investigated the effect of truncations on the human muscle chloride channel CLC-1 and studied the functional complementation… Expand
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Highly Cited
1995
Highly Cited
1995
Autosomal dominant myotonia congenita and autosomal recessive generalized myotonia (GM) are genetic disorders characterized by… Expand
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Highly Cited
1994
Highly Cited
1994
Voltage‐gated ClC chloride channels play important roles in cell volume regulation, control of muscle excitability, and probably… Expand
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Highly Cited
1994
Highly Cited
1994
We expressed the skeletal muscle chloride channel, ClC-1, in HEK293 cells and investigated it with the patch-clamp technique… Expand
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Highly Cited
1992
Highly Cited
1992
CHLORIDE channels have several functions, including the regulation of cell volume1,2, stabilizing membrane potential3,4, signal… Expand
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Highly Cited
1992
Highly Cited
1992
Autosomal recessive generalized myotonia (Becker's disease) (GM) and autosomal dominant myotonia congenita (Thomsen's disease… Expand
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