| PubMed |
Abstract |
RScore(About this table) |
| 17893295 |
Salin-Cantegrel A, Riviere JB, Dupre N, Charron FM, Shekarabi M, Karemera L, Gaspar C, Horst J, Tekin M, Deda G, Krause A, Lippert MM, Willemsen MA, Jarrar R, Lapointe JY, Rouleau GA: Distal truncation of KCC3 in non-French Canadian HMSN/ACC families. Neurology. 2007 Sep 25;69(13):1350-5.
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5(0,0,0,5) |
Details |
| 18566107 |
Salin-Cantegrel A, Shekarabi M, Holbert S, Dion P, Rochefort D, Laganiere J, Dacal S, Hince P, Karemera L, Gaspar C, Lapointe JY, Rouleau GA: HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3. Hum Mol Genet. 2008 Sep 1;17(17):2703-11. Epub 2008 Jun 19.
The potassium-chloride co-transporter 3 (KCC3) is mutated in hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC); however, the molecular mechanisms of HMSN/ACC pathogenesis and the exact role of KCC3 in the development of the nervous system remain poorly understood. |
4(0,0,0,4) |
Details |
| 20020398 |
Rudnik-Schoneborn S, Hehr U, von Kalle T, Bornemann A, Winkler J, Zerres K: Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene. Neuropediatrics. 2009 Jun;40(3):129-33. Epub 2009 Dec 17.
Andermann syndrome is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum (ACC), progressive motor-sensory neuropathy, mental retardation and facial features. |
3(0,0,0,3) |
Details |