Prevalence, pathological mechanisms, and genetic basis of limb‐girdle muscular dystrophies: A review

E Taghizadeh, M Rezaee, GE Barreto… - Journal of cellular …, 2019 - Wiley Online Library
Limb‐girdle muscular dystrophies (LGMDs) are a highly heterogeneous group of
neuromuscular disorders that are associated with weakness and wasting of muscles in legs …

Sarcoglycanopathies: an update

M Vainzof, LS Souza, J Gurgel-Giannetti… - Neuromuscular Disorders, 2021 - Elsevier
Sarcoglycanopathies are the most severe forms of autosomal recessive limb-girdle muscular
dystrophies (LGMDs), constituting about 10–25% of LGMDs. The clinical phenotype is …

CRISPR/Cas correction of muscular dystrophies

Y Zhang, T Nishiyama, EN Olson… - Experimental cell research, 2021 - Elsevier
Muscular dystrophies are a heterogeneous group of monogenic neuromuscular disorders
which lead to progressive muscle loss and degeneration of the musculoskeletal system. The …

A random grouping-based self-regulating artificial bee colony algorithm for interactive feature detection

B Guan, T Xu, Y Zhao, Y Li, X Dong - Knowledge-Based Systems, 2022 - Elsevier
As the dimensionality and complexity of datasets increase, such as biological data, the
demand for fast and efficient technologies to detect relevant feature information from these …

Current classification of canine Muscular dystrophies and identification of new variants

GD Shelton, KM Minor, SG Friedenberg, JN Cullen… - Genes, 2023 - mdpi.com
The spectrum of canine muscular dystrophies has rapidly grown with the recent identification
of several more affected breeds and associated mutations. Defects include those in genes …

A domestic cat whole exome sequencing resource for trait discovery

AR Rodney, RM Buckley, RS Fulton, C Fronick… - Scientific reports, 2021 - nature.com
Over 94 million domestic cats are susceptible to cancers and other common and rare
diseases. Whole exome sequencing (WES) is a proven strategy to study these disease …

Random forest-integrated analysis in AD and LATE brain transcriptome-wide data to identify disease-specific gene expression

X Wu, C Peng, PT Nelson, Q Cheng - Plos one, 2021 - journals.plos.org
Alzheimer's disease (AD) is a complex neurodegenerative disorder that affects thinking,
memory, and behavior. Limbic-predominant age-related TDP-43 encephalopathy (LATE) is …

A comparative assessment of the diagnosis of swallowing impairment and gastroesophageal reflux in canines and humans

TV Ullal, SL Marks, PC Belafsky, JL Conklin… - Frontiers in Veterinary …, 2022 - frontiersin.org
Swallowing impairment is a highly prevalent and clinically significant problem affecting
people and dogs. There are myriad causes of swallowing impairment of which …

A novel canine model for Duchenne muscular dystrophy (DMD): single nucleotide deletion in DMD gene exon 20

S Mata López, JJ Hammond, MB Rigsby… - Skeletal muscle, 2018 - Springer
Abstract Background Boys with Duchenne muscular dystrophy (DMD) have DMD gene
mutations, with associated loss of the dystrophin protein and progressive muscle …

SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy

B Brunetti, B Bacci, JM Abbate, G Tura, O Paciello… - Genes, 2023 - mdpi.com
An 8-month-old female Lagotto Romagnolo dog was presented for a 1-month history of an
initial severe reluctance to move, rapidly progressing to a marked stiff gait and progressive …