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Last Updated: 10/31/2025

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Found 117 publications

An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases.

An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases.

Journal: Methods in molecular biology (Clifton, N.J.)
Published: July 28, 2025

Child Neurology: Severe GMPPB-Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.

Child Neurology: Severe GMPPB-Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.

Journal: Neurology
Published: January 15, 2025

Exploring Splice-Site Mutations in LAMA2-Related Muscular Dystrophies: A Comprehensive Analysis of Genotypic and Phenotypic Patterns.

Exploring Splice-Site Mutations in LAMA2-Related Muscular Dystrophies: A Comprehensive Analysis of Genotypic and Phenotypic Patterns.

Journal: Cureus
Published: June 03, 2024

Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene.

Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene.

Journal: Frontiers in pediatrics
Published: March 21, 2023

Late-onset facioscapulohumeral muscular dystrophy type 1 in previously undiagnosed families: Presenting clinical features in an often-misdiagnosed disorder.

Late-onset facioscapulohumeral muscular dystrophy type 1 in previously undiagnosed families: Presenting clinical features in an often-misdiagnosed disorder.

Journal: Muscle & nerve
Published: January 08, 2023

Tripartite motif-containing protein 32 regulates Ca2+ movement in skeletal muscle.

Tripartite motif-containing protein 32 regulates Ca2+ movement in skeletal muscle.

Journal: American journal of physiology. Cell physiology
Published: November 14, 2022

A new era: Speckle tracking echocardiography and cardiomyopathies.

A new era: Speckle tracking echocardiography and cardiomyopathies.

Journal: Journal of clinical ultrasound : JCU
Published: August 20, 2022

Early cardiac rehabilitation after heart transplantation in a patient with limb-girdle muscular dystrophy: A case report.

Early cardiac rehabilitation after heart transplantation in a patient with limb-girdle muscular dystrophy: A case report.

Journal: Medicine
Published: July 29, 2022

Somatic and germinal mosaicism in a Han Chinese family with laminopathies.

Somatic and germinal mosaicism in a Han Chinese family with laminopathies.

Journal: European journal of human genetics : EJHG
Published: June 08, 2022

Functional Ability and Physical Activity in Hereditary Neuromuscular Diseases.

Functional Ability and Physical Activity in Hereditary Neuromuscular Diseases.

Journal: Journal of neuromuscular diseases
Published: February 18, 2022

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.

Journal: Journal of neuromuscular diseases
Published: October 04, 2021

Quantitative Muscle MRI in Patients with Neuromuscular Diseases-Association of Muscle Proton Density Fat Fraction with Semi-Quantitative Grading of Fatty Infiltration and Muscle Strength at the Thigh Region.

Quantitative Muscle MRI in Patients with Neuromuscular Diseases-Association of Muscle Proton Density Fat Fraction with Semi-Quantitative Grading of Fatty Infiltration and Muscle Strength at the Thigh Region.

Journal: Diagnostics (Basel, Switzerland)
Published: April 16, 2021
Showing 1-12 of 117

Last Updated: 10/31/2025