JAMES LUPSKI to SOXE Transcription Factors
This is a "connection" page, showing publications JAMES LUPSKI has written about SOXE Transcription Factors.
Connection Strength
0.616
-
Interruption of SOX10 function in myelinopathies. Ann Neurol. 2010 Aug; 68(2):121-3.
Score: 0.358
-
Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain. Hum Mol Genet. 2007 Dec 15; 16(24):3037-46.
Score: 0.073
-
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet. 2004 Apr; 36(4):361-9.
Score: 0.057
-
Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation. Ann Neurol. 1999 Sep; 46(3):313-8.
Score: 0.042
-
22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. Am J Med Genet A. 2017 Apr; 173(4):1066-1070.
Score: 0.036
-
A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo. PLoS One. 2010 Dec 16; 5(12):e14346.
Score: 0.023
-
Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature. Pediatr Surg Int. 2003 Dec; 19(11):725-8.
Score: 0.014
-
Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation. Ann Neurol. 2002 Dec; 52(6):836-42.
Score: 0.013