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Type 2 Update: One Patient’s Diagnostic Odyssey with SORD
…the drug basically cured CMT in fruit flies. “This is a remarkable discovery only possible due to large scale genomic data aggregation from volunteering CMT patients,” he added. Dr. Züchner,…
CMTA_2011_Annual_Report
…Suter, ETH Institute, Zurich Dr. Vincent Timmerman, University of Antwerp Dr. Larry Wrabetz, SUNY Buffalo Charcot-Marie-Tooth Association PO Box 105 Glenolden, PA 19036 1-800-606-CMTA www.cmtausa.org www.facebook.com/CMTAssociation Twitter @CMTASTAR https://www.cmtausa.org http://www.facebook.com/CMTAssociation…
Modafinil_Reduces_Fatigue_in_CMT1A_Dr_Gregory_Carter
…in the myelin sheath that also eventually lead to secondary axonal loss.4,5 CMT 1A is passed on in an autosomal dominant pattern.1,5 Most of the descriptive phenotypic studies in CMT…
Inherited Neuropathies Consortium Study 6611: Charcot-Marie-Tooth disease Infant Scale
…disability that is already in place. Clinical outcome assessments have been developed for adults (CMT Neuropathy Score (CMTNS)) and for children 3 years of age and older (CMT Pediatric Scale…
Genetic Testing
…have had one of five conditions, caused by mutations in four genes: CMT1A (PMP22 gene duplication), CMTX1 (aka CMT1X, CMTX) (GJB1 gene mutation), CMT1B (MPZ gene mutation), HNPP (PMP22 gene…
INC Research Study 6602: Genetics of Charcot Marie Tooth Disease
CMTA-Funded Research Database for CMT2 Identifies New Disease-Causing Mutations While researchers have identified more than 90 mutated genes that cause CMT, approximately 50 percent of CMT2 patients do not yet…
2020_CMTA_PFC_Fireside_Chat_transcript
…CMT. This is really part of our mission at the CMTA. In addition to supporting the development of new drugs to treat CMT, we want to make sure we’re helping…
2020_CMTA_PFC_Emotional_Wellness_transcript
…He also has, he’s a member of our CMTA Advisory Board, and he does a column, “Ask David,” in The CMTA Report, which is always just great to read, and…
CMT_Guide_for_Nurses
…(fewer reps, breaks). PSA Nurses Guide.indd 6 4/28/15 10:26 PM CMTA WEBSITE www.cmtausa.org CMTA FACEBOOK PAGE www.facebook.com/CMTAssociation CMTA YOUTUBE CHANNEL www.youtube.com/CMTAssociation CONNECT WITH THE CMTA ON TWITTER www.twitter.com/CMTASTAR JEANA SWEENEY-…
CMT_Guide_for_Nurses
…(fewer reps, breaks). PSA Nurses Guide.indd 6 4/28/15 10:26 PM CMTA WEBSITE www.cmtausa.org CMTA FACEBOOK PAGE www.facebook.com/CMTAssociation CMTA YOUTUBE CHANNEL www.youtube.com/CMTAssociation CONNECT WITH THE CMTA ON TWITTER www.twitter.com/CMTASTAR JEANA SWEENEY-…