Results 61 to 70 of about 466,013 (152)

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

Exploring Awareness of and Self‐Reported Adherence to Neuromuscular Clinical Practice Guidelines Among Australian and New Zealand Health Professionals: A Cross‐Sectional Survey Study

Journal of Evaluation in Clinical Practice, Volume 32, Issue 6, September 2026.
ABSTRACT Background and Purpose There is limited evidence describing awareness and adherence to clinical practice guidelines for neuromuscular disorders. This study aimed to assess awareness of and self‐reported adherence to clinical practice guidelines for neuromuscular disorders among Australian and New Zealand health professionals.
Rachel A. Kennedy, Marlena Klaic, Gabrielle Donlevy, Kate Carroll, Paula Bray, Eppie M. Yiu, Zoe E. Davidson   +6 more
wiley   +1 more source

Revised genetic classification of limb girdle muscular dystrophies

, 2014
Limb girdle muscular dystrophies (LGMD) are a heterogeneous group of inherited progressive muscle disorders affecting predominantly the shoulder and pelvic girdle muscles.
S. Brajkovic, F. Magri, A. Govoni, G.P. Comi, R. Brusa   +4 more
core   +1 more source