Julie M. Rochelle

TL;DR: It is concluded that the primary gene mutated in CMT2A is MFN2, and seven large pedigrees affected with Charcot-Marie-Tooth neuropathy type 2A are concluded.

TL;DR: Through additional positional cloning, a good candidate gene, encoding ganglioside-induced differentiation-associated protein-1 (GDAP1), is identified and three different mutations in four different Tunisian families—two nonsense and one missense mutation are found.

TL;DR: The results suggest that altered Fas transcription results in the failure of lymphocytes to undergo programmed cell death and may lead to an altered immune cell repertoire, which may explain certain central and peripheral defects in tolerance that are present in autoimmune disease.

TL;DR: Northern analysis demonstrated highest levels of mRNA expression in human skeletal muscle, kidney, and heart, with lower levels in brain and other tissues, and Pharmacological characterization demonstrated that the protein product of this cDNA mediated high affinity creatine uptake, which was blocked by creatine analogs with high affinity.

TL;DR: Two linkage groups known to be conserved between segments of mouse Chr 1 and the long arm of human Chrs 1 and 2 where further defined and a new conserved linkage group was identified that includes markers of distal mouse Chr1 and human Chr 1, bands q32 to q42.