Results 81 to 90 of about 924,459 (214)

Nemaline myopathy in newly diagnosed systemic lupus erythematosus and Sjögren’s overlap syndrome complicated by macrophage activation syndrome

BMC Rheumatology, 2022
Background Nemaline myopathies are congenital or acquired muscle disorders that typically present in childhood but can occasionally occur in adults with underlying malignant, infectious or autoimmune disorders.
Christina Vogel, Poonam Manwani, Marcia E. Cornford, Emil R. Heinze   +3 more
doaj   +1 more source

A Case of Non-Progressive Congenital Myopathy: Efficacy and Clinical Outcomes of the Wharton's Jelly Derived Mesenchymal Stem Cell Transplantation

Acta Medica Iranica, 2022
Non-Progressive Congenital Myopathy is a disease characterized by muscle weakness, and unfortunately, there is no conventional treatment. In the last decade, regenerative medicine practices have become a rising value, and Mesenchymal Stem Cells (MSCs ...
Riza Azeri, Eda Sun, Erdal Karaoz
doaj   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source

Congenital myopathies: A clinicopathological study of 25 cases

Indian Journal of Pathology and Microbiology, 2008
Objective: Congenital myopathies are rare. Through this article, the authors want to present a clinicopathological analysis of 25 new cases. Materials and methods: The clinical data of patients who were diagnosed with congenital myopathy between 2001 ...
Jain Deepali, Sharma Mehar, Sarkar Chitra, Gulati Shefali, Kalra Veena, Singh Sumit, Bhatia Rohit   +6 more
doaj  

Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance

, 2006
Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal muscle weakness and specific structural changes in muscle fiber.
최영철, 김태승, 강성웅
core   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Proteomic profiling of Elp1‐deficient trigeminal ganglia reveals disruption of neurotrophic and metabolic pathways in a familial dysautonomia mouse model

Developmental Dynamics, EarlyView.
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard, Lauren Clarissa Tang, Beatrix Ueberheide, Lisa A. Taneyhill   +3 more
wiley   +1 more source

Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.

PLoS Genetics, 2009
Myotubularin is a lipid phosphatase implicated in endosomal trafficking in vitro, but with an unknown function in vivo. Mutations in myotubularin cause myotubular myopathy, a devastating congenital myopathy with unclear pathogenesis and no current ...
James J Dowling, Andrew P Vreede, Sean E Low, Elizabeth M Gibbs, John Y Kuwada, Carsten G Bonnemann, Eva L Feldman   +6 more
doaj   +1 more source

Ocular sequelae of congenital toxoplasmosis in Brazil compared with Europe [PDF]

, 2008
Toxoplasmic retinochoroiditis appears to be more severe in Brazil, where it is a leading cause of blindness, than in Europe, but direct comparisons are lacking.
Bahia Oliveira LM, Bahia-Oliveira Lilian M. G., Bahia-Oliveira, LM, Wallon M, Martine Wallon, Lilian M G Bahia-Oliveira, Petersen E, Miles R Stanford, Wallon Martine, Stanford MR, Ruth E Gilbert, Tan, HK, Freeman, K, Katherine Freeman, Stanford Miles R., Lago, EG, Lago EG, Hooi Kuan Tan, Stanford, MR, Tan Hooi Kuan, Freeman K, Gilbert RE, Tan HK, European Multicentre Study on Congenital T.o.x.o.p.l.a.s.m.o.s.i.s., Freeman Katherine, Gilbert, RE, Eskild Petersen, Gilbert Ruth E., European Multicentre Study on Congenital Toxoplasmosis (EMSCOT), Buffolano Wilma, Wilma Buffolano, Petersen, E, Lago Eleonor G., BUFFOLANO, WILMA, Eleonor G Lago, Buffolano, W, Wallon, M, Petersen Eskild   +37 more
core   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source