Results 31 to 40 of about 32,083 (123)

A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy. [PDF]

J Neuromuscul Dis
Background: LAMA2-related muscular dystrophy (LAMA2-RD) is an autosomal-recessive disorder and one of the most common congenital muscular dystrophies. Due to promising therapies in preclinical development, there is an increasing effort to better define ...
Enzmann C, Steiner L, Pospieszny K, Zweier C, Plattner K, Baumann D, Henzi B, Galiart E, Fink M, Jacquier D, Stettner GM, Ripellino P, Fluss J, Klein A, Swiss-Reg-NMD Group .   +14 more
europepmc   +3 more sources

LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort

Annals of Clinical and Translational Neurology, Volume 7, Issue 10, Page 1870-1882, October 2020., 2020
Abstract Objective To characterize natural history of Laminin‐α2 related muscular dystrophies (LAMA2‐RD) to help anticipating complications and identifying reliable outcome measures for clinical trial design and powering. Methods We conducted a retrospective, single‐center, cross‐sectional and longitudinal study on 46 LAMA2‐RD pediatric patients (37 ...
Alberto A. Zambon, Deborah Ridout, Marion Main, Rachael Mein, Rahul Phadke, Francesco Muntoni, Anna Sarkozy   +6 more
wiley   +1 more source

Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients

Molecular Genetics &Genomic Medicine, Volume 8, Issue 5, May 2020., 2020
Our study achieved a diagnostic yield from WES of 26% (13/50). These cases were diagnostically challenging as prior investigations failed to give clues on specific genetic diagnosis. Our findings are compatible to previous studies observing the diagnostic yield tends to be lower in cohorts that have already undergone prior extensive evaluations ...
Mandy H. Y. Tsang, Annie T. G. Chiu, Bernard M. H. Kwong, Rui Liang, Mullin H. C. Yu, Kit‐San Yeung, Wetor H. L. Ho, Christopher C. Y. Mak, Gordon K. C. Leung, Steven L. C. Pei, Jasmine L. F. Fung, Virginia C. N. Wong, Francesco Muntoni, Brian H. Y. Chung, Sophelia H. S. Chan   +14 more
wiley   +1 more source

Walking and weakness in children: a narrative review of gait and functional ambulation in paediatric neuromuscular disease

Journal of Foot and Ankle Research, Volume 13, Issue 1, 2020., 2020
Abstract Background Weakness is the primary impairment in paediatric neuromuscular diseases, impacting gait and gait‐related functional activities in ambulant children affected by these rare and often degenerative diseases. Gait speed is an indicator of health and disability, yet gait is a complex, multi‐faceted activity.
Rachel A. Kennedy, Kate Carroll, Jennifer L. McGinley, Kade L. Paterson   +3 more
wiley   +1 more source

Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. [PDF]

PLoS ONE, 2017
PURPOSE:Congenital muscular dystrophy (CMD) is a heterogeneous disease entity. The detailed clinical manifestation and causative gene for each subgroup of CMD are quite variable.
Wen-Chen Liang, Xia Tian, Chung-Yee Yuo, Wan-Zi Chen, Tsu-Min Kan, Yi-Ning Su, Ichizo Nishino, Lee-Jun C Wong, Yuh-Jyh Jong   +8 more
doaj   +1 more source

A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.

PLoS ONE, 2012
Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. In patients, muscle weakness is usually present at or shortly after birth and is progressive in nature.
Vandana A Gupta, Genri Kawahara, Jennifer A Myers, Aye T Chen, Thomas E Hall, M Chiara Manzini, Peter D Currie, Yi Zhou, Leonard I Zon, Louis M Kunkel, Alan H Beggs   +10 more
doaj   +1 more source

Impaired Regeneration in Dystrophic Muscle—New Target for Therapy

Frontiers in Molecular Neuroscience, 2020
Muscle stem cells (MuSCs), known as satellite cells (SCs) have an incredible ability to regenerate, which enables the maintenance and growth of muscle tissue.
Nurit Yanay, Nurit Yanay, Malcolm Rabie, Malcolm Rabie, Yoram Nevo, Yoram Nevo   +5 more
doaj   +1 more source

Characterizing the impact of LAMA2-deficiency in cancer cell lines

, 2023
Tese de mestrado, Biologia Evolutiva e Desenvolvimento, 2023, Universidade de Lisboa, Faculdade de CiênciasAt the present time, cancer is a leading cause of death worldwide, according to the World Health Organization (WHO).
Fonseca, Inês Cardoso Ferreira Oliva da
core   +2 more sources

Additional file 1 of Human laminin-111 and laminin-211 protein therapy prevents muscle disease progression in an immunodeficient mouse model of LAMA2-CMD

, 2020
Additional file 1: Supplemental Figure 1. Fibrosis is not significantly changed between immuno deficient and immuno competent LAMA2-CMD muscle. (A) Detection of sirius red stain in TA sections of wild type, NOD Scid, dyW and NODScid dyW mice. Quantification of hydroxyproline in quadriceps of male (N = 4, 6, 8, 5 respectively; p value < 0.05*, 0.004**
Barraza-Flores, Pamela, Hermann, Hailey J., Bates, Christina R., Allen, Tyler G., Grunert, Timothy T., Burkin, Dean J.   +5 more
openaire   +1 more source

Hypoglycemia in patients with congenital muscle disease

BMC Pediatrics, 2020
Background Only a few small studies have previously reported episodes of hypoglycemia in children with neuromuscular diseases; however, there has been no broader investigation into the occurrence of hypoglycemia in children with congenital muscle disease
Leslie H. Hayes, Pomi Yun, Payam Mohassel, Gina Norato, Sandra Donkervoort, Meganne E. Leach, Rachel Alvarez, Anne Rutkowski, Natalie D. Shaw, A. Reghan Foley, Carsten G. Bönnemann   +10 more
doaj   +1 more source