Results 161 to 170 of about 1,170,413 (268)

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

RRAGD p.(Ser76Leu) Variant Causes Dysregulated Expression of Muscle Development and Cytoskeleton Genes in Cardiomyocytes. [PDF]

FASEB J
Adella A, van Katwijk SB, Leermakers PA, van Ham WB, de Ruiter H, Ilgutytė J, Hendrickx S, Nijland L, de Boer TP, van Rooij E, Hoenderop JGJ, de Baaij JHF.   +11 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

CHAMP1 is an essential regulator for human myoblast fusion and muscle development. [PDF]

Nat Commun
Zhang H, Zhou M, Zhang Z, Wang Z, Shi R, Wang Y, Wei X, Shang R, Li J, He C, Xie J, Diao Y, Bi P.   +12 more
europepmc   +1 more source

Effects of Lift Velocity on Muscle Activation During Leg Extension

, 2013
It is not known if manipulating velocity within a prescribed resistance training mode will improve muscle activation. Muscle activations of the Rectus Femoris (RF), Vastus Lateralis (VL), Vastus Medialis (VM) and Bicep Femoris (BF) were examined during a
Johnson, Scott, Hatzel, Brian, Glass, Stephen C., Sjoquist, Heather   +3 more
core  

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Multi-Omics Epigenetic Landscape Unveils Regulatory Mechanisms Underlying Heterosis in Sheep Muscle Development. [PDF]

Animals (Basel)
Cheng J, Xu D, Tian H, Zhang X, Zhao L, Zhang R, Wang J, Xiao J, Li F, Wang W, Zhang D.   +10 more
europepmc   +1 more source

Effect of heparan sulfate and gold nanoparticles on muscle development during embryogenesis

, 2011
Marlena Zielinska1,2, Ewa Sawosz1, Marta Grodzik1, Mateusz Wierzbicki1, Maria Gromadka1, Anna Hotowy3, Filip Sawosz3, Andrzej Lozicki1, Andrè Chwalibog31Division of Biotechnology and Biochemistry of Nutrition, Warsaw University of Life ...
Sawosz E, Sawosz F, Zielinska M, Gromadka M, Chwalibog A, Grodzik M, Hotowy A, Lozicki A, Wierzbicki M   +8 more
core  

Integration of Serum Neurofilament Light Chain and Cortical Dysfunction Improves Diagnostic Accuracy in ALS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether integration of serum neurofilament light chain (NfL) and cortical dysfunction improves diagnostic accuracy in amyotrophic lateral sclerosis (ALS) when applied alongside the Gold Coast criteria (GCC). Methods In this prospective study, 148 participants with suspected ALS were recruited (101 ALS and 47 with ALS ...
Aicee Dawn Calma, Nathan Pavey, Yukiko Tsuji, Amirul Ab Ghapar, Mehdi A.J. van den Bos, Bronwen Orden, Grace Lee, Linda Mekhael, Julie Ryder, Cláudia Santos Silva, David McDonald, Fakhria Kakar, Con Yiannikas, Matthew C. Kiernan, David A. Brown, Parvathi Menon, Steve Vucic   +16 more
wiley   +1 more source

The Role of Polyphenols in Regulating Skeletal Muscle Development and Homeostasis: Molecular Mechanisms and Potential Medical Applications. [PDF]

Mol Nutr Food Res
Mattioli R, Di Risola D, Chiaradia C, Dimauro I, Mosca L, Duranti G, Ceci R.   +6 more
europepmc   +1 more source