Results 181 to 190 of about 20,164 (264)

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Standardized freeze-dried FMT: is the ideal protectant out there? [PDF]

Front Microbiol
Pourrat A, Baillieu V, Ansel S, Leonardi M, Poiron P, Bellais S, Paul M, Nebbad B.   +7 more
europepmc   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Effects of Active Paper Sheets on the Quality of Cherry Tomatoes and Kale During Storage. [PDF]

Foods
Navarro-Martínez A, Piñeros-Castro Y, Garre A, López-Gómez A, Martínez-Hernández GB.   +4 more
europepmc   +1 more source

[The virulence of enterobacteria and immunity].

Zhurnal mikrobiologii, epidemiologii i immunobiologii, 1997
Iu A, Belaia, O F, Belaia
openaire   +1 more source

Bacterial resistance in enterobacteria

Jornal Brasileiro de Patologia e Medicina Laboratorial, 2016
openaire   +2 more sources

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Klebsiella pneumoniae LPS drives stromal-mediated repression of p53 and colorectal cancer chemoresistance. [PDF]

Cell Death Dis
Fragkoulis K, Łasut-Szyszka B, Végvári Á, Ayona D, Saei AA, Aschtgen MS, Peuget S.   +6 more
europepmc   +1 more source

[On the classification of enterobacteria (a review)].

Zhurnal mikrobiologii, epidemiologii i immunobiologii, 1969
E D, Ravich-Birger, L B, Bogoiavlenskaia
openaire   +1 more source