Associated Papers
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.
Krenn M et al.
Journal of Neuromuscular Diseases, 2025
40910438 (PubMed )
Supplement: sj-xlsx-1-jnd-10.1177_22143602251370957.xlsx › Tabelle1
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M et al.
Journal of Neurology, 2024
38127101 (PubMed )
Supplement: 415_2023_12101_MOESM3_ESM.xlsx › Tabellenblatt1
Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients.
Baumgartner D et al.
Journal of Neuromuscular Diseases, 2024
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.
Ruf WP et al.
Brain Communications, 2023
37223130 (PubMed )
Supplement: fcad152_supplementary_data.pdf
FIG4-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant.
Umair M et al.
Molecular Syndromology, 2021
Next generation sequencing and its application in the diagnostics of neuromuscular diseases.
Zídková J et al.
Ceskoslovenska Patologie, 2021
Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort.
Tripolszki K et al.
Frontiers in Genetics, 2019
31475037 (PubMed )
Supplement: DataSheet_1.pdf
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