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Journal of Neuromuscular Diseases
|
May 9, 2022
Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review
Ivana F Audhya, Antoinette Cheung, Shelagh M Szabo, et al.
Journal of Neuromuscular Diseases
|
September 14, 2020
Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations
José Vázquez, Claire Lefeuvre, Rosa Elena Escobar, et al.
Journal of Neuromuscular Diseases
|
December 18, 2020
Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene
Sergey N Bardakov, Roman V Deev, Raisat M Magomedova, et al.
Journal of Neuromuscular Diseases
|
December 16, 2020
Iranian Registry of Duchenne and Becker Muscular Dystrophies: Characterization and Preliminary Data
Farhad Bayat, Isis G Sarmiento, Negar Ahmadian, et al.
Journal of Neuromuscular Diseases
|
January 9, 2023
A Child with Refractory and Relapsing Anti-3-Hydroxy-3-Methylglutaryl-Coenzyme A Reductase Myopathy: Case-Based Review
Seher Sener, Ezgi Deniz Batu, Seher Sari, et al.
Journal of Neuromuscular Diseases
|
June 13, 2022
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing
Alexander Mensch, Isabell Cordts, Leila Scholle, et al.
Journal of Neuromuscular Diseases
|
December 4, 2022
Unique Clinical, Radiological and Histopathological Characteristics of a Southeast Asian Cohort of Patients with Limb-Girdle Muscular Dystrophy 2G/LGMD-R7-Telethonin-Related
Zhiyong Chen, Monica Saini, Jasmine S Koh, et al.
Journal of Neuromuscular Diseases
|
June 27, 2022
A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting
Ali Al Shehri, Abdullah Al-Asmi, Abdullah Mohammed Al Salti, et al.
Journal of Neuromuscular Diseases
|
June 20, 2022
Understanding the Perseverance of the Muscular Dystrophy Community One-Year into the COVID-19 Pandemic
Leann Lewis, Katy Eichinger, Nuran Dilek, et al.
Journal of Neuromuscular Diseases
|
May 26, 2019
Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp)
Hsin-Pin Lin, Kwo Wei David Ho, Nivedita U Jerath
Page
of 88
Search research articles
Search
Showing results (1-10 of 873) with videos related to
Sort By:
Page
of 88
Journal of Neuromuscular Diseases
|
May 9, 2022
Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review
Ivana F Audhya, Antoinette Cheung, Shelagh M Szabo, et al.
Journal of Neuromuscular Diseases
|
September 14, 2020
Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations
José Vázquez, Claire Lefeuvre, Rosa Elena Escobar, et al.
Journal of Neuromuscular Diseases
|
December 18, 2020
Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene
Sergey N Bardakov, Roman V Deev, Raisat M Magomedova, et al.
Journal of Neuromuscular Diseases
|
December 16, 2020
Iranian Registry of Duchenne and Becker Muscular Dystrophies: Characterization and Preliminary Data
Farhad Bayat, Isis G Sarmiento, Negar Ahmadian, et al.
Journal of Neuromuscular Diseases
|
January 9, 2023
A Child with Refractory and Relapsing Anti-3-Hydroxy-3-Methylglutaryl-Coenzyme A Reductase Myopathy: Case-Based Review
Seher Sener, Ezgi Deniz Batu, Seher Sari, et al.
Journal of Neuromuscular Diseases
|
June 13, 2022
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing
Alexander Mensch, Isabell Cordts, Leila Scholle, et al.
Journal of Neuromuscular Diseases
|
December 4, 2022
Unique Clinical, Radiological and Histopathological Characteristics of a Southeast Asian Cohort of Patients with Limb-Girdle Muscular Dystrophy 2G/LGMD-R7-Telethonin-Related
Zhiyong Chen, Monica Saini, Jasmine S Koh, et al.
Journal of Neuromuscular Diseases
|
June 27, 2022
A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting
Ali Al Shehri, Abdullah Al-Asmi, Abdullah Mohammed Al Salti, et al.
Journal of Neuromuscular Diseases
|
June 20, 2022
Understanding the Perseverance of the Muscular Dystrophy Community One-Year into the COVID-19 Pandemic
Leann Lewis, Katy Eichinger, Nuran Dilek, et al.
Journal of Neuromuscular Diseases
|
May 26, 2019
Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp)
Hsin-Pin Lin, Kwo Wei David Ho, Nivedita U Jerath
Page
of 88