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Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center
Neurogenetics
◽
10.1007/s10048-021-00681-2
◽
2022
◽
Author(s):
Kun Huang
◽
Qiu-Xiang Li
◽
Hui-Qian Duan
◽
Yue-Bei Luo
◽
Fang-Fang Bi
◽
...
Keyword(s):
Muscular Dystrophy
◽
Limb Girdle Muscular Dystrophy
Download Full-text
Related Documents
Cited By
References
Correlation between morphological and electro-physiological features in limb-girdle muscular dystrophy
Electroencephalography and Clinical Neurophysiology
◽
10.1016/s0013-4694(97)88200-8
◽
1997
◽
Vol 103
(1)
◽
pp. 65
Author(s):
S Groppa
Keyword(s):
Muscular Dystrophy
◽
Limb Girdle Muscular Dystrophy
Download Full-text
Investigating The Regulation And Role Of P38 Mapk In Collagen-Related Limb Girdle Muscular Dystrophy
10.30707/etd2020.1606247535.293019ap
◽
2020
◽
Author(s):
Briseida Oceguera-Perez
Keyword(s):
Muscular Dystrophy
◽
P38 Mapk
◽
Limb Girdle Muscular Dystrophy
Download Full-text
Orphan designation: 505 amino acid protein, corresponding to amino acids 2-506 of the wild-type human histidyl-tRNA synthetase, Treatment of limb-girdle muscular dystrophy
Case Medical Research
◽
10.31525/cmr-2935ce2
◽
2020
◽
Author(s):
Keyword(s):
Amino Acids
◽
Amino Acid
◽
Muscular Dystrophy
◽
Trna Synthetase
◽
Limb Girdle Muscular Dystrophy
◽
Wild Type
◽
Orphan Designation
◽
Acid Protein
◽
Amino Acid Protein
Download Full-text
Limb-Girdle Muscular Dystrophy Type 2I in Norway
Case Medical Research
◽
10.31525/ct1-nct03930628
◽
2019
◽
Author(s):
Keyword(s):
Muscular Dystrophy
◽
Limb Girdle Muscular Dystrophy
Download Full-text
Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy (LGMD)
Case Medical Research
◽
10.31525/ct1-nct03981289
◽
2019
◽
Author(s):
Keyword(s):
Muscular Dystrophy
◽
Limb Girdle Muscular Dystrophy
◽
Clinical Endpoints
Download Full-text
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients
Neurogenetics
◽
10.1007/s10048-021-00658-1
◽
2021
◽
Author(s):
Kiran Polavarapu
◽
Aradhna Mathur
◽
Aditi Joshi
◽
Saraswati Nashi
◽
Veeramani Preethish-Kumar
◽
...
Keyword(s):
Muscular Dystrophy
◽
Founder Mutation
◽
Limb Girdle Muscular Dystrophy
◽
Congenital Myasthenic Syndrome
◽
Mild Form
◽
Indian Patients
◽
South Indian
◽
Myasthenic Syndrome
Download Full-text
Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy
Journal of Interventional Cardiac Electrophysiology
◽
10.1007/s10840-007-9133-x
◽
2007
◽
Vol 19
(1)
◽
pp. 1-7
◽
Cited By ~ 13
Author(s):
Loizos Antoniades
◽
Christos Eftychiou
◽
Theodoros Kyriakides
◽
Kyproula Christodoulou
◽
Demosthenes G. Katritsis
Keyword(s):
Muscular Dystrophy
◽
Sudden Death
◽
Conduction System
◽
Limb Girdle Muscular Dystrophy
◽
Lamin A
◽
Mild Form
◽
System Disease
◽
Conduction System Disease
Download Full-text
A slowly progressive form of limb‐girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics
Molecular Genetics & Genomic Medicine
◽
10.1002/mgg3.125
◽
2015
◽
Vol 3
(2)
◽
pp. 92-98
◽
Cited By ~ 5
Author(s):
Samiah A. Al‐Zaidy
◽
Vinod Malik
◽
Kelley Kneile
◽
Xiomara Q. Rosales
◽
Ana Maria Gomez
◽
...
Keyword(s):
Muscular Dystrophy
◽
Puerto Rican
◽
Founder Mutation
◽
Limb Girdle Muscular Dystrophy
◽
Progressive Form
Download Full-text
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkBa/NF-kB pathway in limb-girdle muscular dystrophy type 2A
Nature Medicine
◽
10.1038/10579
◽
1999
◽
Vol 5
(7)
◽
pp. 849-849
◽
Cited By ~ 102
Author(s):
S. Baghdiguian
◽
M. Martin
◽
I. Richard
◽
F. Pons
◽
C. Astier
◽
...
Keyword(s):
Muscular Dystrophy
◽
Limb Girdle Muscular Dystrophy
◽
Calpain 3
Download Full-text
Assistive Robotic Exoskeleton for Helping Limb Girdle Muscular Dystrophy
2013 International Conference on Mechatronics, Electronics and Automotive Engineering
◽
10.1109/icmeae.2013.9
◽
2013
◽
Cited By ~ 1
Author(s):
Salomon de Jesus Castro Molina
◽
Esther Lugo
◽
Pedro Ponce Cruz
◽
Artuto Molina
Keyword(s):
Muscular Dystrophy
◽
Limb Girdle Muscular Dystrophy
◽
Robotic Exoskeleton
◽
Assistive Robotic
Download Full-text
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