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Zahra Oushyani Roudsari
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Living with Dysphagia: a Survey Exploring the Experiences of Adults Living with Neuromuscular Disease and their Caregivers in the United Kingdom
10.3233/jnd-230002 · 2024
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy
10.1093/brain/awab301 · 2022
Assessing diagnosis and managing respiratory and cardiac complications of sarcoglycanopathy
10.1080/21678707.2020.1865916 · 2020
Assessment of the quality of life in patients with LGMD. The case of transportinopathy
2024
The Dysferlinopathies Conundrum: clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments
10.3390/biom14030256 · 2024
Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: a Systematic Review
10.3233/jnd-210771 · 2022
The ties that bind: functional clusters in limb-girdle muscular dystrophy
10.1186/s13395-020-00240-7 · 2020
The role of the dystrophin glycoprotein complex on the neuromuscular system
10.1016/j.neulet.2020.134833 · 2020
Limb–Girdle Muscular Dystrophies Classification and Therapies
10.3390/jcm12144769 · 2023
Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I
10.1177/0883073816677680 · 2017
Improved efficacy of FKRP AAV gene therapy by combination with ribitol treatment for LGMD2I
10.1016/j.ymthe.2023.10.022 · 2023
Advanced Gene-Targeting Therapies for Motor Neuron Diseases and Muscular Dystrophies
10.3390/ijms23094824 · 2022
Recombinant Adeno-Associated Viral Integration and Genotoxicity: insights from Animal Models
10.1089/hum.2017.009 · 2017
A Patient of Limb-girdle Muscular Dystrophy Type 1B Presenting with Heart Failure and Cardiac Conduction Defects: a Case Report
10.3329/bmrcb.v48i1.60664 · 2022
The Limb–Girdle Muscular Dystrophies: is Treatment on the Horizon?
10.1007/s13311-018-0648-x · 2018
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study
10.1016/s0140-6736(11)60756-3 · 2011
LGMD D2 TNPO3-Related: from Clinical Spectrum to Pathogenetic Mechanism
10.3389/fneur.2022.840683 · 2022
Limb‐girdle muscular dystrophies: a scoping review and overview of currently available rehabilitation strategies
10.1002/mus.28284 · 2025
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
10.1212/nxg.0000000000000321 · 2019
A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping
10.1242/dmm.040832 · 2020
Dystrophinopathies and Limb-Girdle Muscular Dystrophies
10.1055/s-0037-1601860 · 2017
Lamin A/C Mechanotransduction in Laminopathies
10.3390/cells9051306 · 2020
Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study
10.1186/s12883-024-03588-1 · 2024
Lamin A/C: function in Normal and Tumor Cells
10.3390/cancers12123688 · 2020
Zinc finger nucleases: custom-designed molecular scissors for genome engineering of plant and mammalian cells
10.1093/nar/gki912 · 2005
Nuclear Factor-κB Pathway Mediates the Molecular Pathogenesis of LMNA-Related Muscular Dystrophies
10.1007/s10528-020-09989-4 · 2020
Autologous intramuscular transplantation of engineered satellite cells induces exosome-mediated systemic expression of Fukutin-related protein and rescues disease phenotype in a murine model of limb-girdle muscular dystrophy type 2I
10.1093/hmg/ddx252 · 2017
Trendelenburg gait after total hip arthroplasty due to reduced muscle contraction of the hip abductors and extensors
10.1016/j.jor.2024.07.020 · 2025
Unresolved referenced work
2024
Programmable base editing of T to G C in genomic DNA without DNA cleavage
10.1038/nature24644 · 2017
A Journey with LGMD: from Protein Abnormalities to Patient Impact
10.1007/s10930-021-10006-9 · 2021
Efficacy of Muscle Exercise in Patients with Muscular Dystrophy: a Systematic Review Showing a Missed Opportunity to Improve Outcomes
10.1371/journal.pone.0065414 · 2013
AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression
10.1093/hmg/ddx066 · 2017
Alda Elena Cortés-Rodríguez, Influence of Physical Exercise on Psychological Well-Being of Young Adults: a Quantitative Study
10.3390/ijerph19074282 · 2022
Preclinical Systemic Delivery of Adeno-Associated a-Sarcoglycan Gene Transfer for Limb-Girdle Muscular Dystrophy
10.1089/hum.2019.199 · 2021
A phase i trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C
10.1093/brain/awr342 · 2012
Unresolved referenced work
2024
Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9
10.3233/jnd-221629 · 2024
Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)
10.1016/j.nmd.2022.11.005 · 2023
The Limb-Girdle Muscular Dystrophies
10.1212/con.0000000000001178 · 2022
Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers
10.1172/jci.insight.99357 · doi-reference
P38α MAPK underlies muscular dystrophy and myofiber death through a Bax-dependent mechanism
10.1093/hmg/ddu270 · doi-reference
‘It becomes the new everyday life’–experiences of chronic pain in everyday life of people with limb-girdle muscular dystrophy
10.1080/09638288.2022.2142679 · doi-reference
Dysferlin mutations and mitochondrial dysfunction
10.1016/j.nmd.2016.08.008 · doi-reference
Adeno-associated virus-mediated overexpression of LARGE rescues α-dystroglycan function in dystrophic mice with mutations in the fukutin-related protein
10.1089/hgtb.2013.151 · doi-reference
Dose-dependent effects of FKRP gene-replacement therapy on functional rescue and longevity in dystrophic mice
10.1016/j.omtm.2018.10.004 · doi-reference
Sarcoglycanopathies: an update
10.1016/j.nmd.2021.07.014 · doi-reference
Precise correction of disease mutations in induced pluripotent stem cells derived from patients with limb girdle muscular dystrophy
10.1038/mt.2016.40 · doi-reference
Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F
10.1371/journal.pone.0063536 · doi-reference
10.1212/wnl.0000000000001508
10.1212/wnl.0000000000001508 · doi-reference
B4GALNT2 (GALGT2) Gene Therapy Reduces Skeletal Muscle Pathology in the FKRP P448L Mouse Model of Limb Girdle Muscular Dystrophy 2I
10.1016/j.ajpath.2016.05.021 · doi-reference
Prevalence, pathological mechanisms, and genetic basis of limb-girdle muscular dystrophies: a review
10.1002/jcp.27907 · doi-reference
Endurance training: an effective and safe treatment for patients with LGMD2I
10.1212/01.wnl.0000250358.32199.24 · doi-reference
Transcription activator‐like effector nucleases (TALENs): a highly efficient and versatile tool for genome editing
10.1002/bit.24890 · doi-reference
Prevalence of chronic pain in a national cohort of patients with limb-girdle muscular dystrophy: a cross-sectional study
10.1080/09638288.2021.1998669 · doi-reference
AAV. Dysferlin overlap vectors restore function in dysferlinopathy animal models
10.1002/acn3.172 · doi-reference
The Process of Engraftment of Myogenic Cells in Skeletal Muscles of Primates: understanding Clinical Observations and Setting Directions in Cell Transplantation Research
10.1177/0963689717724798 · doi-reference
A Clinical Study Shows Safety and Efficacy of Autologous Bone Marrow Mononuclear Cell Therapy to Improve Quality of Life in Muscular Dystrophy Patients
10.3727/096368913x672136 · doi-reference
Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels
10.1159/000533976 · doi-reference
Impact of single-nucleotide polymorphisms at the TP53-binding and responsive promoter region of BCL2 gene in modulating the phenotypic variability of LGMD2C patients
10.1007/s11033-012-1581-4 · doi-reference
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan
10.1152/physiolgenomics.00036.2018 · doi-reference
Sarcomere Formation Occurs by the Assembly of Multiple Latent Protein Complexes
10.1371/journal.pgen.1001208 · doi-reference
Restriction of Calpain3 Expression to the Skeletal Muscle Prevents Cardiac Toxicity and Corrects Pathology in a Murine Model of Limb-Girdle Muscular Dystrophy
10.1161/circulationaha.113.001340 · doi-reference
Advances in oligonucleotide drug delivery
10.1038/s41573-020-0075-7 · doi-reference
Antisense oligonucleotides: the next frontier for treatment of neurological disorders
10.1038/nrneurol.2017.148 · doi-reference
CRISPR/Cas9 System: 2020 Nobel Prize in Chemistry
10.1007/s12045-020-1088-6 · doi-reference
Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery
10.1038/mt.2014.141 · doi-reference
Exercise in muscle disorders: what is our current state?
10.1097/wco.0000000000000597 · doi-reference
Systemic AAV-Mediated β-Sarcoglycan Delivery Targeting Cardiac and Skeletal Muscle Ameliorates Histological and Functional Deficits in LGMD2E Mice
10.1016/j.ymthe.2017.02.013 · doi-reference
Unmet needs and evolving treatment for limb girdle muscular dystrophies
10.2217/nmt-2020-0066 · doi-reference
Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): diagnosis and Therapeutic Possibilities
10.3390/ijms25115572 · doi-reference
Systemic Delivery of Dysferlin Overlap Vectors Provides Long-Term Gene Expression and Functional Improvement for Dysferlinopathy
10.1089/hum.2017.062 · doi-reference
Clinically advanced p38 inhibitors suppress DUX4 expression in cellular and animal models of facioscapulohumeral muscular dystrophys
10.1124/jpet.119.259663 · doi-reference
The effects of 12 weeks’ resistance training on psychological parameters and quality of life in adults with Facioscapulohumeral, Becker, and Limb–girdle dystrophies
10.1080/09638288.2021.1955306 · doi-reference
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies
10.1212/wnl.0000000000000892 · doi-reference
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients
10.1002/acn3.649 · doi-reference
Cas9-induced single cut enables highly efficient and template-free repair of a muscular dystrophy causing founder mutation
10.1016/j.omtn.2023.02.005 · doi-reference
Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories
10.1212/nxg.0000000000200084 · doi-reference
CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related
10.1002/humu.24421 · doi-reference
A Straightforward Approach to Analyze Skeletal Muscle MRI in Limb-Girdle Muscular Dystrophy for Differential Diagnosis: a Systematic Review
10.3390/muscles2040029 · doi-reference