The expansion of 300 CTG repeats in myotonic dystrophy transgenic mice does not induce sensory or motor neuropathy [PDF]
, 2018 Summary: Although many studies have been carried out to verify the involvement of the peripheral nervous system (PNS) in dystrophia myotonica (DM1) patients, the results remain controversial. The generation of DM1 transgenic mice displaying the human DM1
Barakat-Walter, I. +5 more
core
The evolution of infrahissian conduction time in myotonic dystrophy patients: clinical implications [PDF]
, 2012 International ...
Babuty, Dominique +8 more
core +2 more sources
Congenital myotonic dystrophy: case report [PDF]
, 2014 Miotonička distrofi ja ili Steinertova bolest druga je po učestalosti mišićna distrofi ja u djetinjstvu, odmah nakon progresivnih mišić- nih distrofi ja (Duchenne i Becker).
Antun Sasso +5 more
core +2 more sources
A role for RNA localization in the human neuromuscular disease myotonic dystrophy [PDF]
, 2009 textRNA localization, a regulated step of gene expression, is fundamentally important in development and differentiation. In multidisciplinary experiments, we discovered that RNA (mis)localization underlies the human disease myotonic dystrophy (DM).
Croft, Samantha Brooke
core +1 more source
Muscle MRI in myotonic dystrophy type 1 with foot drop [PDF]
, 2010 The purpose of this study was to investigate the relationship of muscle MRI findings and gait disturbance in myotonic dystrophy type 1 (DM1) patients. Thirteen patients with DM1 were evaluated by manual muscle strength test and muscle MRI of the lower ...
57466 +9 more
core
Myotonic Dystrophy Type 1 - An Atypical Presentation Having Symmetric Parkinsonism and Early Proximal Muscle Involvement. [PDF]
Ann Indian Acad Neurol, 2023 Misra AK +4 more
europepmc +1 more source
From phenotype to genotype: issues in navigating the available information resources [PDF]
, 2003 pre-printObjectives-As part of an investigation of connecting health professionals and the lay public to both disease and genomic information, we assessed the availability and nature of the data from the Human Genome Project relating to human genetic ...
McCray, A.T., Bodenreider, O. +1 more
core
, 2014 Cysteinyl residues in proteins are important for many cellular processes and unregulated modification of the cysteine thiol group can have negative effects on cell vitality and viability.
Sondhauss, Sven
core +2 more sources
A novel fusion between CDC42BPB and ALK in a patient with quadruple wild-type gastrointestinal stromal tumor. [PDF]
Mol Genet Genomic Med, 2022 Huang W +9 more
europepmc +1 more source