Gerardo Del Valle
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Hereditary Neurological Disorders, Ion channel regulation and function, DNA Repair Mechanisms, Cardiac electrophysiology and arrhythmias
Most-Cited Works
- → Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity(2012)181 cited
- → Randomized trial of two doses of the prostaglandin E1 analog misoprostol for labor induction(1997)93 cited
- → Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models(2009)80 cited
- → A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3(2001)78 cited
- → Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1(2014)29 cited
- → Identification and Functional Characterization ofCLCN1Mutations Found in Nondystrophic Myotonia Patients(2015)24 cited
- → Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3(2004)22 cited
- → Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero ( MPZ , P0 ) gene causes different phenotypes in homozygous and heterozygous carriers within one family(2003)17 cited
- → Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene(2006)13 cited