Results 161 to 170 of about 306,770 (339)

A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle [PDF]

Stijn L.M. in ‘t Groen, Marnix Franken, Theresa Bock, Marcus Krüger, Jessica C. de Greef, W.W.M. Pim Pijnappel   +5 more
openalex   +1 more source

Impact of Noninvasive Ventilation on Lung Volumes and Maximum Respiratory Pressures in Duchenne Muscular Dystrophy [PDF]

, 2016
Dante Brasil Santos, Isabelle Vaugier, Ghilas Boussaïd, David Orlikowski, Hélène Prigent, Frédéric Lofaso   +5 more
openalex   +1 more source

Feasibility of High‐Density Surface Electromyography for the Detection of Neuromuscular Disorders in Children

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Diagnosing neuromuscular disorders in children is challenging. Concentric needle electromyography (CNEMG) is the standard for electrophysiological assessments but has limitations in pediatric populations. High‐density surface electromyography (HDsEMG) provides a noninvasive technique with superior spatial resolution, enabling
Eduardo Martinez‐Valdes, Ignacio Contreras‐Hernandez, Ragul Selvamoorthy, Francesco Negro, Andrew Lawley   +4 more
wiley   +1 more source

A pathogenic variant in the transforming growth factor beta I (TGFBI) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review.

, 2020
Aliasgar Mohammadi, Aazam Ahmadi Shadmehri, Mahnaz Taghavi, Gholamhossein Yaghoobi, Mohammad Reza Pourreza, Mohammad Amin Tabatabaiefar   +5 more
openalex   +2 more sources

Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1 [PDF]

, 2019
Qi Yin, Hongye Wang, Zhenfei Xie, Lifang Jin, Yifu Ding, Na Li, Yan Li, Qiong Wang, Xinyi Liu, Liu‐Qing Xu, Kai Wang, Yanbo Cheng, Boran Chang, Cuiqing Zhong, Yu Qian, Wei Tang, Wan‐Jin Chen, Wenjun Yang, Fan Zhang, Chen Ding, Lan Bao, Bin Zhou, Ping Hu, Jinsong Li   +23 more
openalex   +1 more source

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source

Quantitative ultrasound assessment of Duchenne muscular dystrophy using edge detection analysis [PDF]

, 2016
Aarnink, Arai, Bhansing, Bickerstaffe, Boland, Bushby, Bushby, Canny, Chen, Emery, Gudmundsson, Hammoude, Hoffman, Hou, Jansen, Janssen, Mahmoud, Mazzone, Mazzone, McDonald, Peters, Pillen, Pillen, Rutkove, Schreiber, Shklyar, Torriani, Wu, Zaidman, Zaidman, Zwehl   +30 more
core   +2 more sources

Direct Haplotyping-Based Noninvasive Prenatal Test for Myotonic Dystrophy Type 1 with Large CTG Expansion [PDF]

, 2020
Hyukmin Lee, Kyungbok Lee, Han Song, Choong-Hyun Sun, Man Jin Kim, Sung Im Cho, Young Kyung Lee, Sung Sup Park, Moon‐Woo Seong   +8 more
openalex   +1 more source

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

Inhibition of FLT1 ameliorates muscular dystrophy phenotype by increased vasculature in a mouse model of Duchenne muscular dystrophy

, 2019
Mayank Verma, Yuko Shimizu‐Motohashi, Yoko Asakura, James P. Ennen, Jennifer Bosco, Zhiwei Zhou, Guo-Hua Fong, Serene Josiah, Dennis Keefe, Atsushi Asakura   +9 more
openalex   +2 more sources