Results 71 to 80 of about 1,827 (98)

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

Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)

Objective: To identify novel biomarkers as an alternative diagnostic tool for limb girdle muscular dystrophy (LGMD). Background: LGMD encompasses a group of muscular dystrophies characterized by proximal muscles weakness, elevated CK levels and ...
Anna Rubegni, Nicola De Stefano, Gian Nicola Gallus, Patrizia Formichi, Alessandro Malandrini, Simona Salvatore, Diego Lopergolo, Sara Aguti, Gianna Berti, Silvia Bianchi   +9 more
core   +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

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  

Functional inference of conductances in the LGMD neuron

, 2014
This thesis develops an approach to determine spatially-varying ionic channel conductances throughout the dendrites of the LGMD neuron from distal transmembrane potential recordings in response to distributed subthreshold current injections.
Ackermann, Etienne
core  

French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice

Orphanet Journal of Rare Diseases
Background Calpainopathies, including limb-girdle muscular dystrophy recessive type 1 (LGMD R1) and the rare dominant type 4 (LGMD D4), are genetic neuromuscular disorders caused by pathogenic variants in the CAPN3 gene, which encodes calpain-3, a muscle-
Gianmarco Severa, Sarah Souvannanorath, Iman Tahiri, Christophe Alimi, Abderhmane Slioui, Luisa Villa, Emmanuelle Salort-Campana, France Leturcq, Nathalie Streichenberger, Martin Krahn, Guilhem Solé, Léonard Feasson, Aleksandra Nadaj-Pakleza, Celine Tard, Tanya Stojkovic, Sabrina Sacconi, Edoardo Malfatti   +16 more
doaj   +1 more source

Differential axon terminal spread and synapse numbers amongst afferent neurons onto a locust's movement detector [PDF]

BIO Web of Conferences
Leitinger Gerd, Radulovic Snjezana, Cocks Erin, Rind Claire   +3 more
doaj   +1 more source

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

Association of Limb-Girdle muscular dystrophy with multiple sclerosis: A case report

Caspian Journal of Internal Medicine, 2018
Background: The association of limb-girdle muscular dystrophy (LGMD) with other neurological disorders is uncommon. Case presentation: We report a 25-year-old female with LGMD who suffered from slowly progressive proximal muscular weakness and atrophy ...
Mahsa Arzani, Hamed Rezaei, Abdorreza Naser Moghadasi   +2 more
doaj  

DAB2 in LGMD R2: a molecular link between disease progression and lipid dysregulation

JCI Insight
Limb-girdle muscular dystrophy R2 (LGMD R2) is an autosomal recessive disorder caused by dysferlin deficiency, leading to progressive muscle weakness and wasting.
Celine Bruge, Nathalie Bourg, Emilie Pellier, Quentin Miagoux, Manon Benabides, Noella Grossi, Hassan Hayat, Margot Jarrige, Helene Polveche, Valeria Agostini, Anthony Brureau, Stephane Vassilopoulos, Teresinha Evangelista, Gorka Fernández-Eulate, Tanya Stojkovic, Isabelle Richard, Xavier Nissan   +16 more
doaj   +1 more source