AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN

Literature (3)

Literature for OMIM 218000: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN

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The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum., Howard HC,Mount DB,Rochefort D,Byun N,Dupré N,Lu J,Fan X,Song L,Rivière JB,Prévost C,Horst J,Simonati A,Lemcke B,Welch R,England R,Zhan FQ,Mercado A,Siesser WB,George AL,McDonald MP,Bouchard JP,Mathieu J,Delpire E,Rouleau GA, Nat Genet. November 1, 2002; 32(3):1546-1718.
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy., Park J,Flores BR,Scherer K,Kuepper H,Rossi M,Rupprich K,Rautenberg M,Deininger N,Weichselbaum A,Grimm A,Sturm M,Grasshoff U,Delpire E,Haack TB, J Med Genet. April 1, 2020; 57(4):1468-6244.
Advancements in the use of xenopus oocytes for modelling neurological disease for novel drug discovery., O'Connor EC,Kambara K,Bertrand D, Expert Opin Drug Discov. February 1, 2024; 19(2):1746-045X.

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum., Howard HC,Mount DB,Rochefort D,Byun N,Dupré N,Lu J,Fan X,Song L,Rivière JB,Prévost C,Horst J,Simonati A,Lemcke B,Welch R,England R,Zhan FQ,Mercado A,Siesser WB,George AL,McDonald MP,Bouchard JP,Mathieu J,Delpire E,Rouleau GA, Nat Genet. November 1, 2002; 32(3):1546-1718.

De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy., Park J,Flores BR,Scherer K,Kuepper H,Rossi M,Rupprich K,Rautenberg M,Deininger N,Weichselbaum A,Grimm A,Sturm M,Grasshoff U,Delpire E,Haack TB, J Med Genet. April 1, 2020; 57(4):1468-6244.

Advancements in the use of xenopus oocytes for modelling neurological disease for novel drug discovery., O'Connor EC,Kambara K,Bertrand D, Expert Opin Drug Discov. February 1, 2024; 19(2):1746-045X.