Results 41 to 50 of about 26,826 (219)
Rehabilitation interventions for foot drop in neuromuscular disease [PDF]
, 2007 "Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Disler, Peter B. +3 more
core +1 more source
Two cases of myotonic dystrophy manifesting various ophthalmic findings with genetic evaluation
Indian Journal of Ophthalmology, 2016 We report two cases of myotonic dystrophy in one family; both diagnosed from genetic analysis following ophthalmic indications, but before the manifestation of systemic symptoms. A 39-year-old female visited our clinic for routine examination.
Min Ji Kang +2 more
doaj +1 more source
Vitamin-enriched drinks and dessert for myotoniс dystrophy patients with oropharyngeal dysfagia
Бюллетень сибирской медицины, 2008 Myotonic dystrophy is a multisystemic disease which mutation may influence your development and function of different organs and tissue: smooth and skeletal-muscular tissue; heart; organs of the eye, brain.
N. A. Shnaider +3 more
doaj +1 more source
Myotonic Dystrophy: Severity and Maternal Age
Pediatric Neurology Briefs, 1992 The severity of myotonic dystrophy in 17 affected sibling pairs from 15 families in which 2 or more affected children were born to mothers with myotonic dystrophy is reported from the Hospital for Sick Children, London and the Prince of Wales Children’s ...
J Gordon Millichap
doaj +1 more source
JA Clinical Reports, 2021 Background Remimazolam is a benzodiazepine receptor agonist with an ultra-short-acting anesthetic effect. We used remimazolam for anesthesia in a patient with myotonic dystrophy type 1 who underwent endoscopic retrograde cholangiopancreatography (ERCP ...
Masakazu Fukuda +3 more
doaj +1 more source
Citron binds to PSD-95 at glutamatergic synapses on inhibitory neurons in the hippocampus [PDF]
, 1999 Synaptic NMDA-type glutamate receptors are anchored to the second of three PDZ (PSD-95/Discs large/ZO-1) domains in the postsynaptic density (PSD) protein PSD-95.
Apperson, Michelle +3 more
core +1 more source
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy [PDF]
, 2015 International audienceMyotonic Dystrophy type 1 (DM1) is a dominant neuromuscular disease caused by nuclear-retained RNAs containing expanded CUG repeats.
Allamand, Valérie +20 more
core +3 more sources
Animal Models and Experimental Medicine, EarlyView.We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp +12 more
wiley +1 more source
Pulmonary thromboembolism in a patient with myotonic dystrophy type 1
Annals of Indian Academy of Neurology, 2012 Thromboembolism is a rare complication in patients with myotonic dystrophy. While immobilization of patients with advanced disease predisposes to high risk for venous thromboembolism, hypercoagulability could account for venous thromboembolism in ...
Joong-Yang Cho +6 more
doaj +1 more source