Results 61 to 70 of about 2,672 (146)

Re-framing bio-plausible collision detection: identifying shared meta-properties through strategic prototyping

Frontiers in Neurorobotics
Insects exhibit remarkable abilities in navigating complex natural environments, whether it be evading predators, capturing prey, or seeking out con-specifics, all of which rely on their compact yet reliable neural systems.
Haotian Wu, Haotian Wu, Shigang Yue, Shigang Yue, Cheng Hu, Cheng Hu   +5 more
doaj   +1 more source

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   +1 more source

Limb-Girdle Muscular Dystrophies

Pediatric Neurology Briefs, 2003
The phenotype in limb-girdle muscular dystrophy (LGMD) type 21 was defined by mutation analysis, protein studies, and respiratory and cardiac involvement studied in 16 patients from 14 families with fukutin-related protein (FKRP) gene mutations and LGMD,
J Gordon Millichap
doaj   +1 more source

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Human Genomics, 2018
Background Limb girdle muscular dystrophies (LGMD) are a group of heterogeneous hereditary myopathies with similar clinical symptoms. Disease onset and progression are highly variable, with an elusive genetic background, and around 50% cases lacking ...
Jakub Piotr Fichna, Anna Macias, Marcin Piechota, Michał Korostyński, Anna Potulska-Chromik, Maria Jolanta Redowicz, Cezary Zekanowski   +6 more
doaj   +1 more source

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   +1 more source

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy

Annals of Clinical and Translational Neurology
Objective Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity.
Shruthi Mohan, Shannon McNulty, Courtney Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers, Teagan Nunnery, Autumn Self, Brooke Palus, Svetlana Gorokhova, April Kennedy, Zhiyv Niu, Mridul Johari, Alassane Baneye Maiga, Kelly Macalalad, Amanda R. Clause, Jacques S. Beckmann, Lucas Bronicki, Sandra T. Cooper, Vijay S. Ganesh, Peter B. Kang, Akanchha Kesari, Monkol Lek, Jennifer Levy, Laura Rufibach, Marco Savarese, Melissa J. Spencer, Volker Straub, Giorgio Tasca, Conrad C. Weihl   +29 more
doaj   +1 more source

From Doubt to Diagnosis: Canadian Patient Perspectives on a Limb‐Girdle Muscular Dystrophy Diagnosis

Health Expectations
Introduction Limb‐girdle muscular dystrophies (LGMDs) encompass a rare and genetically diverse set of disorders, posing challenges in diagnosis due to the absence of distinct pathological features, leading to frequent misdiagnoses and inadequate symptom ...
Homira Osman, Zainab Adamji, Gerald Pfeffer, Jodi Warman‐Chardon, Pryamvada Varma, Jenna Keindel, Stacey Lintern   +6 more
doaj   +1 more source

The role of magnetic resonance imaging in diagnosing limb-girdle muscular dystrophy: a descriptive exploratory diagnostic study

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery
Background Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited neuromuscular disorders characterized by progressive weakness of the pelvic and shoulder girdle muscles.
Sara Mohamed Ihab, Khaled Abou Alfotouh Ahmed, Nagia Ali Fahmy, Samia Ashour Helal, Doaa Abdallah Elaidy   +4 more
doaj   +1 more source

Lubricant Rheological Behavior Effect Analysis on the Performance of Finite Porous Self- Lubricating Journal Bearings

Journal of Applied Fluid Mechanics, 2018
In this paper, the hydrodynamic lubrication of finite porous self-lubricating journal bearings is investigated taking into account the rheological lubricant behavior effect.
M. Malki, Salah Larbi, S. Boubendir, R. Bennacer   +3 more
doaj  

Development of differential diagnostic models for distinguishing between limb-girdle muscular dystrophy and idiopathic inflammatory myopathy

Arthritis Research & Therapy
Objective Limb-girdle muscular dystrophy (LGMD) is usually confused with idiopathic inflammatory myopathy (IIM) in clinical practice. Our study aimed to establish convenient and reliable diagnostic models for distinguishing between LGMD and IIM.
Guangyu Wang, Lijun Fu, Lining Zhang, Kai Shao, Ying Hou, Tingjun Dai, Pengfei Lin, Chuanzhu Yan, Bing Zhao   +8 more
doaj   +1 more source