Results 41 to 50 of about 879,135 (289)

Transient Myopia and Hypotonia after Blunt Eye Trauma

open access: yes, 2011
A patient whot received blunt trauma to the right eye one week ago referred to our clinic with complaints of low vision. Traumatic mMyopia and hypotonia were detected in the same eye after full ophthalmologic examination.
Yonca Ayd›n Akova   +4 more
core   +1 more source

That Happen When You Are In XL Real Muscle Gainer.

open access: yes, 2021
XL Muscle Gainer Testosterone has many benefits, and therefore, men should ensure they have a balanced amount in their system. To support the use of XL Real Muscle Gainer, men should also aim for eating healthy balanced diets, adopt a cleaner lifestyle ...
XL Real Muscle Gainer
core   +1 more source

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

open access: yesAnnals 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   +8 more
wiley   +1 more source

The emergence of Pax7-expressing muscle stem cells during vertebrate head muscle development [PDF]

open access: yes, 2015
Pax7 expressing muscle stem cells accompany all skeletal muscles in the body and in healthy individuals, efficiently repair muscle after injury. Currently, the in vitro manipulation and culture of these cells is still in its infancy, yet muscle stem ...
Erika C. Jorge   +23 more
core   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem   +9 more
wiley   +1 more source

Infantile Hypotonia and Respiratory Failure with Missense Variant in IGHMBP2 Gene: A Case of SMARD1 Disease

open access: yesIndian Pediatrics Case Reports
Background: Infantile-onset hypotonia could be due to genetic causes of neuromuscular diseases. We report an infant with spinal muscular atrophy with respiratory distress type 1 (SMARD1), which is a less-known, rare, severe, progressive congenital ...
Reshma Chillal   +3 more
doaj   +1 more source

Mechanical forces during muscle development [PDF]

open access: yes, 2016
International audienceMuscles are the major force producing tissue in the human body. While certain muscle types specialize in producing maximum forces, others are very enduring.
Schnorrer, F., Lemke, S., Lemke, S.B.
core   +1 more source

Image1_Shank3 related muscular hypotonia is accompanied by increased intracellular calcium concentrations and ion channel dysregulation in striated muscle tissue.TIF

open access: yes, 2023
Phelan-McDermid syndrome (PMS) is a syndromic form of Autism Spectrum Disorders (ASD) classified as a rare genetic neurodevelopmental disorder featuring global developmental delay, absent or delayed speech, ASD-like behaviour and neonatal skeletal muscle
Sarah Jesse (120792)   +6 more
core   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou   +6 more
wiley   +1 more source

X-linked Myotubular Myopathy with a Novel MTM1 Mutation in a Taiwanese Child

open access: yesJournal of the Formosan Medical Association, 2008
We report a male, preterm newborn infant with X-linked myotubular myopathy, the most severe type of the disease. He presented at birth with generalized hypotonia, difficulty in swallowing, and respiratory distress with frequent episodes of atelectasis ...
Chia-Ying Chang   +5 more
doaj   +1 more source

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