Results 71 to 80 of about 12,800 (285)
Dystonia Scales for Children: Challenges and Obstacles in DBS Practice
Movement Disorders Clinical Practice, EarlyView.Abstract Background Dystonia in pediatric patients often coexists with other movement disorders and neurodevelopmental issues. Current rating scales for evaluating pediatric deep brain stimulation (DBS) candidates are not universally applicable and often require a non‐validated combination of the existing scales.
Marcela Montiel +4 more
wiley +1 more source
BMC Neurology, 2018 Background Filamin C-related myofibrillar myopathies (MFM) are progressive skeletal myopathies with an autosomal dominant inheritance pattern. The conditions are caused by mutations of the filamin C gene (FLNC) located in the chromosome 7q32-q35 region ...
Jing Miao +5 more
doaj +1 more source
Cellular and molecular mechanisms underlying muscular dystrophy [PDF]
, 2014 The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core +1 more source
MRI of Neurogenic Human Motor Units Following Poliomyelitis
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims Surviving motor units in neurogenic diseases demonstrate collateral reinnervation. Scanning electromyography (EMG) reveals normal motor unit corridor length, but with “silent regions,” suggesting that reinnervation does not result in increased motor unit size but may increase motor unit complexity.
Stuart Maitland +6 more
wiley +1 more source
Myopathy with anti-HMGCR antibodies: Perimysium and myofiber pathology [PDF]
, 2015 OBJECTIVE: To analyze clinical features and myopathology changes in muscle fibers, connective tissue, and vessels in 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) antibody–associated myopathies.
Alshehri, Ali +3 more
core +2 more sources
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims Dissociation of echogenicity of the flexor digitorum profundus (FDP) and flexor carpi ulnaris (FCU) on neuromuscular ultrasound has been reported to be a useful sign to differentiate inclusion body myositis (IBM) from more common disease mimics, but it is not clear that this finding is pathognomonic of IBM. Our study aimed to
Anson W. Wilks, Nizar Chahin
wiley +1 more source
Marshall Journal of Medicine, 2021 Mutations in the genes that code for type VI collagen can lead to what are known as the collagenopathies (collagen VI myopathies), such as Bethlem myopathy (BTHLM1), which affect structural tissues like muscles and tendons. We present the case of a young
Holly Farkosh, Dominika Lozowska
doaj +1 more source
Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients [PDF]
, 2013 The congenital myopathies include a wide spectrum of clinically, histologically and genetically variable neuromuscular disorders many of which are caused by mutations in genes for sarcomeric proteins.
El-Mezgueldi, M +9 more
core +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Facioscapulohumeral muscular dystrophy: more complex than it appears [PDF]
, 2014 Facioscapulohumeral muscular dystrophy (FSHD) has been classified as an autosomal dominant myopathy, linked to rearrangements in an array of 3.3 kb tandemly repeated DNA elements (D4Z4) located at the 4q subtelomere (4q35).
RICCI, GIULIA, TUPLER, Rossella, Zatz, M
core +1 more source