Results 61 to 70 of about 466,057 (189)

Advances in imaging of brain abnormalities in neuromuscular disease

Therapeutic Advances in Neurological Disorders, 2019
Brain atrophy, white matter abnormalities, and ventricular enlargement have been described in different neuromuscular diseases (NMDs). We aimed to provide a comprehensive overview of the substantial advancement of brain imaging in neuromuscular diseases ...
Corrado Angelini, Elena Pinzan
doaj   +1 more source

Phenotypic and immunohistochemical characterization of sarcoglycanopathies

Clinics, 2011
INTRODUCTION: Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of progression, and intensity of ...
Ana F. B. Ferreira, Mary S. Carvalho, Maria Bernadete D. Resende, Alda Wakamatsu, Umbertina Conti Reed, Suely Kazue Nagahashi Marie   +5 more
doaj   +1 more source

With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies

Neurology and Clinical Neuroscience, Volume 14, Issue 5, Page 354-361, September 2026.
ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, Volume 270, Issue 1, Page 83-97, September 2026.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies

We describe a strategy for molecular diagnosis in the autosomal recessive Limb-girdle muscular dystrophies, a highly heterogeneous group of inherited muscle-wasting diseases.
Mercuri E, Pollitt C, Pogue R, Moss JA, Johnson MA, Davison K, Bushby KMD, Anderson LVB, Pyle A, Muntoni F, Sewry C   +10 more
core   +5 more sources

Advances in diagnosis and treatment of limb-girdle muscular dystrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
Limb - girdle muscular dystrophy (LGMD) is a group of disorders caused by gene mutations, with proximal muscle weakness as their main manifestation. Although various subtypes of LGMD share the common feature, heterogenity exist both in clinical phenotype
Meng YU, Zhao-xia WANG
doaj  

Analysis on clinical phenotype and gene mutation of two cases of limb - girdle muscular dystrophy type 2A during preclinical stage

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To explore the clinical manifestations, laboratory examination, imaging, neurophysiological, genetic test and family data of 2 patients with limb-girdle muscular dystrophy type 2A (LGMD2A) during the preclinical stage, and to provide clinical ...
Huan LI, Yu-ling ZHU, Jing LI, Liang WANG, Ruo-jie HE, Jin-fu LIN, Cheng ZHANG   +6 more
doaj   +1 more source

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

PROTEOMICS, Volume 26, Issue 9, Page 6-23, September 2026.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling, Dounia Bouragba, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck   +6 more
wiley   +1 more source

TUBA4A Pathogenic Variant Manifesting With Adulthood‐Onset Genetic Myasthenic Syndrome, Myopathy, and Infertility

European Journal of Neurology, Volume 33, Issue 9, September 2026.
ABSTRACT Objectives TUBA4A pathogenic variants are associated with ALS, frontotemporal dementia, spastic ataxia, spasticity, ataxia, Parkinson's disease, female infertility, macrothrombocytopenia, and myopathy. Four recently reported patients with TUBA4A neonatal/childhood onset myopathy had also a decrement on repetitive nerve stimulation (RNS), but ...
Margherita Milone, Stefan Nicolau, Zhiyv Niu, Teerin Liewluck, Eric J. Sorenson, Xin‐Ming Shen, C. Michael Harper, William J. Litchy   +7 more
wiley   +1 more source

Use of magnetic resonance imaging in the diagnosis of idiopathic inflammatory myopathies

Современная ревматология, 2019
Idiopathic inflammatory myopathies (IIMs) are a group of autoimmune diseases characterized by cross-striated muscle inflammation accompanied by muscle weakness.
A. N. Khelkovskaya-Sergeeva, L. P. Ananyeva, D. O. Kazakov, E. L. Nasonov   +3 more
doaj   +1 more source