Consensus-based care recommendations for adults with myotonic dystrophy type 1
T Ashizawa, C Gagnon, WJ Groh… - Neurology: Clinical …, 2018 - AAN Enterprises
Purpose of review Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease
that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline …
that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline …
Treating pediatric neuromuscular disorders: the future is now
JJ Dowling, H D. Gonorazky, RD Cohn… - American Journal of …, 2018 - Wiley Online Library
Pediatric neuromuscular diseases encompass all disorders with onset in childhood and
where the primary area of pathology is in the peripheral nervous system. These conditions …
where the primary area of pathology is in the peripheral nervous system. These conditions …
Competency-based medical education: theory to practice
Although competency-based medical education (CBME) has attracted renewed interest in
recent years among educators and policy-makers in the health care professions, there is …
recent years among educators and policy-makers in the health care professions, there is …
[HTML][HTML] Nusinersen versus sham control in later-onset spinal muscular atrophy
Background Nusinersen is an antisense oligonucleotide drug that modulates pre–
messenger RNA splicing of the survival motor neuron 2 (SMN2) gene. It has been …
messenger RNA splicing of the survival motor neuron 2 (SMN2) gene. It has been …
Frog skin epithelium: electrolyte transport and chytridiomycosis
CR Campbell, J Voyles, DI Cook, A Dinudom - The international journal of …, 2012 - Elsevier
One unique physiological characteristic of frogs is that their main route for intake of water is
across the skin. In these animals, the skin acts in concert with the kidney and urinary bladder …
across the skin. In these animals, the skin acts in concert with the kidney and urinary bladder …
Pathogenesis of chytridiomycosis, a cause of catastrophic amphibian declines
The pathogen Batrachochytrium dendrobatidis (Bd), which causes the skin disease
chytridiomycosis, is one of the few highly virulent fungi in vertebrates and has been …
chytridiomycosis, is one of the few highly virulent fungi in vertebrates and has been …
[HTML][HTML] Increased gut permeability and microbiota change associate with mesenteric fat inflammation and metabolic dysfunction in diet-induced obese mice
YY Lam, CWY Ha, CR Campbell, AJ Mitchell… - PloS one, 2012 - journals.plos.org
We investigated the relationship between gut health, visceral fat dysfunction and metabolic
disorders in diet-induced obesity. C57BL/6J mice were fed control or high saturated fat diet …
disorders in diet-induced obesity. C57BL/6J mice were fed control or high saturated fat diet …
Ataluren treatment of patients with nonsense mutation dystrophinopathy
Introduction: Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations
are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of …
are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of …
The TREAT‐NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations
CL Bladen, D Salgado, S Monges… - Human …, 2015 - Wiley Online Library
Analyzing the type and frequency of patient‐specific mutations that give rise to Duchenne
muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research …
muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research …
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
Background Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare
neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of …
neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of …