Results 61 to 70 of about 13,537,879 (292)

Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia

Brain Sciences
Background: Childhood-onset progressive ataxias are rare neurodegenerative disorders characterized by cerebellar signs, sometimes associated with other neurological or extra-neurological features.
Jacopo Sartorelli, Maria Grazia Pomponi, Giacomo Garone, Gessica Vasco, Francesca Cumbo, Vito Luigi Colona, Adele D’Amico, Enrico Bertini, Francesco Nicita   +8 more
doaj   +1 more source

The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review

Orphanet Journal of Rare Diseases, 2017
BackgroundDuchenne Muscular Dystrophy (DMD) is a rapidly progressive, lethal neuromuscular disorder, present from birth, which occurs almost exclusively in males. We have reviewed contemporary evidence of burden, epidemiology, illness costs and treatment
S. Ryder, R. Leadley, N. Armstrong, M. Westwood, S. de Kock, T. Butt, Mohit J. Jain, J. Kleijnen   +7 more
semanticscholar   +1 more source

Effect of DFPP on Ferroptosis in Peripheral Blood CD14+ Monocytes of Hyperlipidemic Patients Involving the ACSL4/LPCAT3/ALOX5 Pathway

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Hyperlipidemia is a major risk factor for atherosclerotic cardiovascular disease (ASCVD). Although statins are the cornerstone of lipid‐lowering therapy, their use may be limited in some patients by adverse effects. This study evaluated the possible impact of non‐drug treatment using double‐filtration plasmapheresis (DFPP) on CD14+
Yun Cheng, Lan Li, Qingmei Yang, Meipeng Wu   +3 more
wiley   +1 more source

Sulfotransferase signaling sustains fibroblast identity and antagonizes therapeutic cardiac reprogramming

Nature Communications
Differentiated cells maintain their identity through active mechanisms that suppress alternative cell fates, but disrupting these barriers can enhance direct reprogramming for organ repair.
Michaela R. Romero, Sean Murphy, Yu-Ling Chang, Aashna Lamba, Sara Ancel, Alicia Llorente, James Marchant, Chun-Teng Huang, Caroline Kumsta, Peter Andersen, Sanjeev Ranade, Ahmed I. Mahmoud, Chulan Kwon, Hudson H. Freeze, Peter D. Adams, Alessandra Sacco, Mark J. Ranek, Brooke M. Emerling, Yu Xin Wang, Alexandre R. Colas   +19 more
doaj   +1 more source

Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for Care

Journal of Neuromuscular Diseases, 2019
Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in SMN1 and results in the loss of motor neurons and progressive muscle weakness.
D. Schorling, A. Pechmann, J. Kirschner
semanticscholar   +1 more source

Correction of muscular dystrophies by CRISPR gene editing.

Journal of Clinical Investigation, 2020
Muscular dystrophies are debilitating disorders that result in progressive weakness and degeneration of skeletal muscle. Although the genetic mutations and clinical abnormalities of a variety of neuromuscular diseases are well known, no curative ...
F. Chemello, R. Bassel-Duby, E. Olson
semanticscholar   +1 more source

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

FEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

Studies on muscular dystrophy associated genes [PDF]

, 2007
Muscular dystrophy is a collective group of genetic disorder that results in progressive wasting of skeletal muscle. Dysferlin, the gene responsible for Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM) was found to be a member of
Bakir, Hadil
core  

Dystrophin glycoprotein complex dysfunction:a regulatory link between muscular dystrophy and cancer cachexia [PDF]

, 2005
Cachexia contributes to nearly a third of all cancer deaths, yet the mechanisms underlying skeletal muscle wasting in this syndrome remain poorly defined.
Butchbach, Matthew E R, Burghes, Arthur H M, Guttridge, Denis C, Sahenk, Zarife, Saji, Motoyasu, Acharyya, Swarnali, Ringel, Matthew D, Skipworth, Richard J E, Rafael-Fortney, Jill A, Wang, Huating, Hollingsworth, Michael A, Carathers, Micheal, Fearon, Kenneth C H, Muscarella, Peter   +13 more
core   +1 more source

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source