Results 71 to 80 of about 28,319 (230)

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

Neurology and Clinical Neuroscience, EarlyView.
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

Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2

BMC Neurology, 2022
Background Myosin heavy chain (MyHC) isoforms define the three major muscle fiber types in human extremity muscles. Slow beta/cardiac MyHC (MYH7) is expressed in type 1 muscle fibers.
Carola Hedberg-Oldfors, Ólöf Elíasdóttir, Mats Geijer, Christopher Lindberg, Anders Oldfors   +4 more
doaj   +1 more source

Kelch proteins: emerging roles in skeletal muscle development and diseases [PDF]

, 2014
Our understanding of genes that cause skeletal muscle disease has increased tremendously over the past three decades. Advances in approaches to genetics and genomics have aided in the identification of new pathogenic mechanisms in rare genetic disorders ...
Beggs, Alan H, Gupta, Vandana A
core   +1 more source

Review of nutrition management of pediatric intestinal pseudo‐obstruction

Nutrition in Clinical Practice, EarlyView.
Abstract Chronic intestinal pseudo‐obstruction (CIPO) is a rare, heterogeneous, and debilitating disorder characterized by profound intestinal dysmotility and severe nutrition challenges. Its presentation resembles that of mechanical bowel obstruction, but CIPO occurs in the absence of luminal obstruction.
Senthilkumar Sankararaman, Raisa Rani James, Bushra El‐Amaireh, Andrea Adler, Kadakkal Radhakrishnan, Sujithra Velayuthan   +5 more
wiley   +1 more source

Intrafamilial phenotypic variability of DNAJB6 mutation associated autosomal dominantly inherited myopathy: a family report and literature review

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
Objective To summarize the clinical phenotypes and genetic mutations of DNAJB6 related myopathies. Methods We retrospectively reviewed the clinical information, laboratory tests, muscle MRIs, electromyography results, muscle pathology examinations and ...
LI Fan, YU Meng, XIE Zhi⁃ying, WANG Qing⁃qing, LIU Jing, ZHANG Wei, LÜ He, YUAN Yun, WANG Zhao⁃xia   +8 more
doaj  

Follow-up of a pregnant patient with restrictive cardiomyopathy and neuromuscular disease – mission is possible – case report [PDF]

Българска кардиология
The follow-up of pregnant patients with cardiomyopathies is a challenge that every cardiologist will be facing sooner or later. We present the first case of a patient with restrictive cardiomyopathy and Alpha-B-crystallinopathy (distal myopathy type ...
Z. Shomanova, H. Welp, R. Schmitz, J.R. Sindermann   +3 more
doaj   +3 more sources

Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy

Scientific Reports, 2022
GNE myopathy is a distal myopathy caused by biallelic variants in GNE, which encodes a protein involved in sialic acid biosynthesis. Compound heterozygosity of the second most frequent variant among Japanese GNE myopathy patients, GNE c.620A>T encoding p.
Wakako Yoshioka, Aritoshi Iida, Kyuto Sonehara, Kazuki Yamamoto, Yasushi Oya, Madoka Mori-Yoshimura, Takashi Kurashige, Mariko Okubo, Megumu Ogawa, Fumihiko Matsuda, Koichiro Higasa, Shinichiro Hayashi, Harumasa Nakamura, Masakazu Sekijima, Yukinori Okada, Satoru Noguchi, Ichizo Nishino   +16 more
doaj   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

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, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center

Frontiers in Neurology, 2020
Background: Myofibrillar myopathy is a group of hereditary neuromuscular disorders characterized by dissolution of myofibrils and abnormal intracellular accumulation of Z disc-related proteins.
Yue-Bei Luo, Yuyao Peng, Yuling Lu, Qiuxiang Li, Huiqian Duan, Fangfang Bi, Huan Yang   +6 more
doaj   +1 more source

Ultrasound-Guided Femoral and Sciatic Nerve Blocks for Repair of Tibia and Fibula Fractures in a Bennett's Wallaby (Macropus rufogriseus) [PDF]

, 2016
Locoregional anesthetic techniques may be a very useful tool for the anesthetic management of wallabies with injuries of the pelvic limbs and may help to prevent capture myopathies resulting from stress and systemic opioids’ administration.
Adami, C, Campoy, L, Monticelli, P
core   +5 more sources