Results 11 to 20 of about 7,022 (221)

Enhancing LGMD-based model for collision prediction via binocular structure

Frontiers in Neuroscience, 2023
IntroductionLobular giant motion detector (LGMD) neurons, renowned for their distinctive response to looming stimuli, inspire the development of visual neural network models for collision prediction.
Yi Zheng, Yi Zheng, Yusi Wang, Yusi Wang, Guangrong Wu, Guangrong Wu, Haiyang Li, Haiyang Li, Jigen Peng, Jigen Peng   +9 more
doaj   +2 more sources

Unraveling the Molecular Basis of the Dystrophic Process in Limb-Girdle Muscular Dystrophy LGMD-R12 by Differential Gene Expression Profiles in Diseased and Healthy Muscles

Cells, 2022
Limb-girdle muscular dystrophy R12 (LGMD-R12) is caused by two mutations in anoctamin-5 (ANO5). Our aim was to identify genes and pathways that underlie LGMD-R12 and explain differences in the molecular predisposition and susceptibility between three ...
Christophe E. Depuydt, Veerle Goosens, Rekin’s Janky, Ann D’Hondt, Jan L. De Bleecker, Nathalie Noppe, Stefaan Derveaux, Dietmar R. Thal, Kristl G. Claeys   +8 more
doaj   +2 more sources

Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study

BMC Neurology
Background The Limb Girdle Muscular Dystrophies (LGMDs) are characterized by progressive weakness of the shoulder and hip girdle muscles as a result of over 30 different genetic mutations.
Amy Doody, Lindsay Alfano, Jordi Diaz-Manera, Linda Lowes, Tahseen Mozaffar, Katherine D. Mathews, Conrad C. Weihl, Matthew Wicklund, Man Hung, Jeffrey Statland, Nicholas E. Johnson, On behalf of the GRASP-LGMD Consortium   +11 more
doaj   +2 more sources

LGMD. Identification, description and classification.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2020
The term 'limb girdle muscular dystrophy' (LGMD) was first used in the seminal paper by Walton and Nattrass in 1954, were they identified LGMD as a separate clinical entity In LGMD description it is pointed out that the category of LGMD most likely comprises a heterogeneous group of disorders.
C. Angelini
openaire   +3 more sources

Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi)

Stem Cell Research, 2017
Recently, a new type of limb-girdle muscular dystrophy (LGMD type 2Z) has been identified due to a missense mutation in POGLUT1 (protein O-glucosyltransferase-Rumi), an enzyme capable of adding glucose to a distinct serine residue of epidermal growth ...
Jianbo Wu, Samuel D. Hunt, Nadine Matthias, Emilia Servián-Morilla, Jonathan Lo, Hamed Jafar-Nejad, Carmen Paradas, Radbod Darabi   +7 more
doaj   +2 more sources

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing. [PDF]

Mol Genet Genomic Med
Targeted routine testing combined with NGS approaches enabled effective genetic diagnosis of muscular dystrophies in Moroccan patients, with nearly half of cases resolved by first‐line testing and additional diagnoses obtained through targeted sequencing and whole‐exome sequencing.
Rahmuni Y, Ratbi I, Lyahyai J, Jaouad IC, Batta O, Sbiti A, Sahli M, Askander O, Rchiad Z, Sefiani A.   +9 more
europepmc   +2 more sources

RUNX2 Activation in Fibro/Adipogenic Progenitors Promotes Muscle Fibrosis in Muscular Dystrophy. [PDF]

Adv Sci (Weinh)
This study revealed a novel role of the chemokine‐TGF‐β1‐RUNX2 axis in determining the fate of FAP differentiation and modulating muscle fibrosis in patients and mice with muscular dystrophies. ABSTRACT Clinical evidence indicates concurrent muscle inflammation and fibrosis in muscular dystrophies (MDs); however, the molecular mechanisms underlying ...
Wu P, Zhang Z, Zheng K, Zhu Z, Zhu Y, Kiram A, Zhao L, Chen H, Xu Z, Li X, Sun B, Li Z, Xu D.   +12 more
europepmc   +2 more sources

OppLoD: the Opponency based Looming Detector, Model Extension of Looming Sensitivity from LGMD to LPLC2 [PDF]

arXiv.org, 2023
Looming detection plays an important role in insect collision prevention systems. As a vital capability evolutionary survival, it has been extensively studied in neuroscience and is attracting increasing research interest in robotics due to its close ...
Shuang Feng, Yanpeng Zhu, Yuxuan Xie, Lei Zhao, Quansheng Xie, Jiannan Zhao, Shigang Yue   +6 more
semanticscholar   +1 more source

Systemic γ-sarcoglycan AAV gene transfer results in dose-dependent correction of muscle deficits in the LGMD 2C/R5 mouse model

Molecular Therapy: Methods & Clinical Development, 2023
Limb-girdle muscular dystrophy (LGMD) type 2C/R5 results from mutations in the γ-sarcoglycan (SGCG) gene and is characterized by muscle weakness and progressive wasting.
Young-Eun Seo, S. Baine, A. Kempton, O. Rogers, S. Lewis, K. Adegboye, Alex Haile, D. Griffin, E. Peterson, E. Pozsgai, R. Potter, L. Rodino-Klapac   +11 more
semanticscholar   +1 more source

Skeletal Muscle Cells Derived from Induced Pluripotent Stem Cells: A Platform for Limb Girdle Muscular Dystrophies

Biomedicines, 2022
Limb girdle muscular dystrophies (LGMD), caused by mutations in 29 different genes, are the fourth most prevalent group of genetic muscle diseases. Although the link between LGMD and its genetic origins has been determined, LGMD still represent an unmet ...
Celine Bruge, Marine Geoffroy, Manon Benabides, Emilie Pellier, Evelyne Gicquel, Jamila Dhiab, Lucile Hoch, Isabelle Richard, Xavier Nissan   +8 more
doaj   +1 more source