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Neurology. Genetics
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March 28, 2024
Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in <i>COL6A2</i> Gene Causes Recessive UCMD
Rasha El Sherif, Yoshihiko Saito, Tomonari Awaya, et al.
Neurology. Genetics
|
March 22, 2024
Primary Progressive Apraxia of Speech Caused by TDP-43: A Case Report
Gabriela Meade, Jennifer L Whitwell, Dennis W Dickson, et al.
Neurology. Genetics
|
July 13, 2023
Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories
Robert Muni-Lofra, Eduard Juanola-Mayos, Marianela Schiava, et al.
Neurology. Genetics
|
August 7, 2023
Genomic Diagnoses for Ectopic Intracerebral Calcifications
Changrui Xiao, Thomas Cassini, Daniel Benavides, et al.
Neurology. Genetics
|
August 30, 2023
Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation: A Case Report
Netta Agajany, Liran Horev, Netanel Agajany, et al.
Neurology. Genetics
|
June 22, 2023
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans
Nomakhosazana R Monnakgotla, Amokelani C Mahungu, Jeannine M Heckmann, et al.
Neurology. Genetics
|
March 6, 2026
Precision Diagnosis of Wilson Disease Using a MultiGene Panel: Insights From a Prospective Cohort Study
Jie Lin, You-Liang Wang, Yongqiang Qu, et al.
Neurology. Genetics
|
March 13, 2026
Plasma isomiRs as Candidate Biomarkers for Amyotrophic Lateral Sclerosis
Rogan G Magee, Vivianna M Van Deerlin, Corey T McMillan, et al.
Neurology. Genetics
|
March 16, 2026
Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period
Gianpaolo Cicala, Jo Mccauley, Rahul Phadke, et al.
Neurology. Genetics
|
March 5, 2026
Utility of Targeted RNA Analysis in Neurogenetic Disorders
Shoji Ichikawa, Katie Yergert, Brooklynn Gasser, et al.
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Search research articles
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Showing results (821-830 of 842) with videos related to
Sort By:
Page
of 85
Neurology. Genetics
|
March 28, 2024
Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in <i>COL6A2</i> Gene Causes Recessive UCMD
Rasha El Sherif, Yoshihiko Saito, Tomonari Awaya, et al.
Neurology. Genetics
|
March 22, 2024
Primary Progressive Apraxia of Speech Caused by TDP-43: A Case Report
Gabriela Meade, Jennifer L Whitwell, Dennis W Dickson, et al.
Neurology. Genetics
|
July 13, 2023
Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories
Robert Muni-Lofra, Eduard Juanola-Mayos, Marianela Schiava, et al.
Neurology. Genetics
|
August 7, 2023
Genomic Diagnoses for Ectopic Intracerebral Calcifications
Changrui Xiao, Thomas Cassini, Daniel Benavides, et al.
Neurology. Genetics
|
August 30, 2023
Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation: A Case Report
Netta Agajany, Liran Horev, Netanel Agajany, et al.
Neurology. Genetics
|
June 22, 2023
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans
Nomakhosazana R Monnakgotla, Amokelani C Mahungu, Jeannine M Heckmann, et al.
Neurology. Genetics
|
March 6, 2026
Precision Diagnosis of Wilson Disease Using a MultiGene Panel: Insights From a Prospective Cohort Study
Jie Lin, You-Liang Wang, Yongqiang Qu, et al.
Neurology. Genetics
|
March 13, 2026
Plasma isomiRs as Candidate Biomarkers for Amyotrophic Lateral Sclerosis
Rogan G Magee, Vivianna M Van Deerlin, Corey T McMillan, et al.
Neurology. Genetics
|
March 16, 2026
Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period
Gianpaolo Cicala, Jo Mccauley, Rahul Phadke, et al.
Neurology. Genetics
|
March 5, 2026
Utility of Targeted RNA Analysis in Neurogenetic Disorders
Shoji Ichikawa, Katie Yergert, Brooklynn Gasser, et al.
Page
of 85