Associated Papers
Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort.
Amprosi M et al.
Journal of Neurology, 2026
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
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG35
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
Salivary gland cancer organoids are valid for preclinical genotype-oriented medical precision trials.
Ishikawa T et al.
Iscience, 2023
37207275 (PubMed )
Supplement: mmc12.xlsx › Sheet1
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
33083013 (PubMed )
Supplement: 41525_2020_150_MOESM1_ESM.pdf
Cerebral Iron Accumulation Is Not a Major Feature of FA2H/SPG35.
Marelli C et al.
Movement Disorders Clinical Practice, 2015
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