Results 131 to 140 of about 1,930,566 (331)

Charcot and vascular Parkinsonism

Arquivos de Neuro-Psiquiatria
Jean-Martin Charcot (1825-1893), recognized as the founder of Neurology and the first formal teacher of nervous system diseases, died on August 16, 1893, from acute pulmonary edema secondary to myocardial infarction. In his last years, there were several
Hélio A. G. Teive, Francisco M. B. Germiniani, Renato P. Munhoz   +2 more
doaj   +1 more source

Acidemia orgánica (propiónica) en un neonato detectada por espectrometría de masas en tándem

Biomédica: revista del Instituto Nacional de Salud, 2008
La acidemia propiónica es un error innato del metabolismo de herencia autosómica recesiva, causada por la deficiencia de la enzima propionil CoA carboxilasa, que cataliza la conversión de propionil CoA a malonil CoA.
Yolanda Cifuentes, Isabel De la Hoz, Martha Bermúdez, Clara Arteaga   +3 more
doaj   +1 more source

Remarks on the Etiology of Choked Disk in Brain Disease [PDF]

, 1875
Edward G. Loring
openalex   +1 more source

Identification of amino acids essential for angulin‐1/3 binding of the tricellular tight junction binder, angubindin‐1

FEBS Open Bio, EarlyView.
Angubindin‐1 binds angulin‐1/‐3 at tricellular tight junctions, enhancing intestinal macromolecule permeation. Alanine scanning identified six essential residues (L562, L598, E638, V640, Y643, and K644) of angubindin‐1 critical for binding to angulin‐1/‐3 and permeation‐enhancing activity, providing insights for the development of targeted noninvasive ...
Taiki Kuzu, Yumi Iwashita, Keisuke Tachibana, Itsuki Nishino, Yuki Niwa, Atsuko Uyeda, Kazuki Matsuo, Masahiro Nagahama, Masuo Kondoh   +8 more
wiley   +1 more source

Electrical pulse stimulation reflecting the episodic nature of real‐life exercise modulates metabolic and secretory profile of primary human myotubes

FEBS Open Bio, EarlyView.
Here, we introduced an intermittent electrical stimulation protocol mimicking the episodic nature of real‐life exercise in vitro by alternating low‐ and high‐frequency stimulation. In comparison with widely used continuous stimulation, it enhanced the rate of glucose and fatty acid oxidation, but not the myokine release.
Klára Gabrišová, Tímea Kurdiová, Daria Barkova, Natália Pálešová, Jana Babulicová, Silvia Tyčiaková, Marta Novotová, Mária Balážová, Miroslav Sabo, Václav Pustka, Jozef Ukropec, Barbara Ukropcová   +11 more
wiley   +1 more source

Treatment of brain disease in the mucopolysaccharidoses

Molecular Genetics and Metabolism, 2017
The mucopolysaccharidosis (MPS) disorders are a group of lysosomal storage diseases caused by lysosomal enzyme deficits that lead to glycosaminoglycan accumulation, affecting various tissues throughout the body based on the specific enzyme deficiency. These disorders are characterized by their progressive nature and a variety of somatic manifestations ...
Scarpa, Maurizio, Orchard, Paul J., Schulz, Angela, Dickson, Patricia I., Haskins, Mark E., Escolar, Maria L., Giugliani, Roberto   +6 more
openaire   +5 more sources

Congenital Myasthenic Syndrome with Agrin Mutations

Pediatric Neurology Briefs, 2014
Investigators at Newcastle University, UK, and Hopitaux de Paris, France, report 5 patients from 3 unrelated families with a strikingly homogeneous clinical entity combining congenital myasthenia with distal muscle weakness and atrophy resembling a ...
J Gordon Millichap, John J Millichap
doaj   +1 more source

The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells

FEBS Open Bio, EarlyView.
We performed nanopore whole‐transcriptome sequencing comparing RNA from Hnrnpl‐knockdown versus control C2C12 myoblasts to investigate the contributions of Hnrnpl to muscle development. Our results indicate that Hnrnpl regulates the expression of genes involved with Notch signaling and skeletal muscle, particularly splicing patterns of specific muscle ...
Hannah R. Littel, Mekala Gunasekaran, Audrey L. Daugherty, Natalya M. Wells, Johnnie Turner, Christine C. Bruels, Christina A. Pacak, Isabelle Draper, Peter B. Kang   +8 more
wiley   +1 more source

Multiple Sclerosis and Seizure Prevalence

Pediatric Neurology Briefs, 2014
Investigators from Oslo University Hospital and other centers in Norway studied changes in the prevalence and incidence of multiple sclerosis (MS) in Vestfold County, Norway, in the period 1983-2003.
J Gordon Millichap, John J Millichap
doaj   +1 more source

Lectures on Paralysis as an Effect of Brain-Disease [PDF]

, 1876
C. E. Brown-Séquard
openalex   +1 more source