Variety appeal to set Chantelle Lawrence free

by Josephine Gillespie for The Queensland Times At only 13, Chantelle Lawrence has already seen the inside of more hospitals than most people will in a lifetime. Born with a rare progressive neuromuscular condition known as Dejerine-Sottas Syndrome, Chantelle has Continue reading Variety appeal to set Chantelle Lawrence free

Girl with Dejerine-Sottas receives Children of Courage award

From the Macedon Ranges Leader, by Barry Kennedy: CARLSRUHE’S Amber Jepsen has a growing set of hobbies including horse riding, playing the keyboard, card games, drawing, painting and writing. The seven-year-old is confident she will be a famous author and Continue reading Girl with Dejerine-Sottas receives Children of Courage award

Why medical discoveries don’t become cures

Desperately Seeking Cures How the road from promising scientific breakthrough to real-world remedy has become all but a dead end. By Sharon Begley and Mary Carmichael | NEWSWEEK Published May 14, 2010 From the magazine issue dated May 31, 2010 Continue reading Why medical discoveries don’t become cures

Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.

J Neurol. 2010 May 12 Lee YC, Lin KP, Chang MH, Liao YC, Tsai CP, Liao KK, Soong BW. Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan, ROC. Abstract Mutations in MPZ, which encodes myelin protein zero Continue reading Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.

Schoolboy with Dejerine-Sottas wins international horse riding competition

By Suruchi Sharma A young horse rider at an Elstree riding school is celebrating his win as junior champion at an international tournament in Belgium. Michael Murphy, 13, from Mill Hill, went to Moorsele, in Belgium, two weeks ago with Continue reading Schoolboy with Dejerine-Sottas wins international horse riding competition

Genetic Factors Clinical Study

Researchers at the University of Miami are investigating genetic factors that contribute to Charcot Marie Tooth disease.  Any individual with a diagnosis of CMT and his/her selected family members can participate.  Participation involves providing a small blood sample, a family Continue reading Genetic Factors Clinical Study

NT3 Gene Therapy for CMT1A Benefits Mice

From MDA’s Quest magazine: Mice with a disorder resembling type 1A Charcot-Marie-Tooth (CMT1A) disease that received a single intramuscular injection of genes for the protein neurotrophin 3 (NT3) showed improvements in grip strength, ability to stay on a rotating rod, Continue reading NT3 Gene Therapy for CMT1A Benefits Mice

Rebecca Ionasescu, 86 Victor Ionasescu, 83

Drs. Rebecca and Victor Ionasescu, researchers into muscular dystrophy and Charcot-Marie-Tooth, have passed away after a long life with each other. Dr. Rebecca (Gabi) Ionasescu, who specialized in internal medicine and conducted research in immunology back in Romania, joined Victor Continue reading Rebecca Ionasescu, 86 Victor Ionasescu, 83