Associated Papers
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants
Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.
Desai A et al.
Bmc Musculoskeletal Disorders, 2016
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.
Krüger S et al.
Frontiers in Molecular Neuroscience, 2016
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP et al.
Journal of Medical Genetics, 2013
23881933 (PubMed )
Supplement: jmedgenet-2013-101795-s1.pdf
Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3.
Koppers M et al.
Neurobiology of Aging, 2013
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