Results 221 to 230 of about 157,656 (310)
Quantitative MRI of upper limb muscles in DMD patients showed increasing sensitivity to change over time with larger analysis volumes and longer follow‐up. Muscle fat fraction had the highest sensitivity to change and was associated with declining upper limb function, supporting its value as a robust imaging biomarker in DMD. ABSTRACT Duchenne muscular
M. Michaëls +5 more
wiley +1 more source
Diagnosis, Pathogenesis and Treatment of Muscular Dystrophy. [PDF]
Bozzi M.
europepmc +1 more source
Abstract Background Mutations in DMD affect not only muscles but also the brain. Cases of schizophrenia with DMD mutations have been described previously. Although female dystrophinopathy often has a milder phenotype, some affected females also have intellectual disabilities and psychiatric disorders.
Shusei Arafuka +15 more
wiley +1 more source
Assessing the multidimensional burden of facioscapulohumeral muscular dystrophy through patient-reported outcomes and experience. [PDF]
Ji W +16 more
europepmc +1 more source
ABSTRACT Rush Medical College implemented a new, integrated pre‐clerkship curriculum. Pharmacology was integrated with other basic sciences into a flipped, small‐group, case‐based structure. This report describes the main features of the pharmacology curriculum for pharmacology directors to have a template.
Brinda Desai Bradaric +3 more
wiley +1 more source
Co-Occurrence of Myasthenia Gravis and Facioscapulohumeral Muscular Dystrophy: A Case Series and Review of Literature. [PDF]
Tammam G +14 more
europepmc +1 more source
ABSTRACT Background and Aims Autoimmune nodopathy (AN) is a subtype of antibody‐mediated inflammatory neuropathy targeting the node of Ranvier (NoR). Diagnosis requires detection of anti‐(para)nodal autoantibodies like contactin‐1 and neurofascin‐155 via ELISA or cell‐based assays, but protocols are inconsistent. Causes of node autoimmunity are unknown,
Luise Appeltshauser +9 more
wiley +1 more source
X-linked Emery-Dreifuss muscular dystrophy caused by a novel <i>FHL1</i> mutation: A case report. [PDF]
Zhang H +4 more
europepmc +1 more source
Complementary square wave voltammetry (SWV) and liquid chromatography‐tandem mass spectrometry (LC‐MS/MS DNA) are used to analyze DNA extracted from selected muscle tissues from either mdx or col5a1(+/‐) mouse models. SWV oxidative currents change with treatment and allow for a rapid genetic analysis.
Elizabeth R. LaFave +6 more
wiley +1 more source
The Promise and Pitfalls of AAV-Mediated Gene Therapy for Duchenne Muscular Dystrophy. [PDF]
Kurshakova EV +3 more
europepmc +1 more source

