Associated Papers
GiOPARK Project: The Genetic Study of Parkinson's Disease in the Croatian Population.
Rački V et al.
Genes, 2024
38397244 (PubMed )
Supplement: genes-15-00255-s001.zip › genes-2872356-supplementary.pdf
A Next-Generation Sequencing Study in a Cohort of Sicilian Patients with Parkinson's Disease.
Salemi M et al.
Biomedicines, 2023
Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review.
Chen S et al.
Frontiers in Molecular Neuroscience, 2022
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
32987860 (PubMed )
Supplement: genes-11-01123-s001.zip › Supplementary_Table_I.xlsx › Variant_list
Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.
Scarlino S et al.
International Journal of Molecular Sciences, 2020
32397312 (PubMed )
Supplement: ijms-21-03346-s001.pdf
A novel mutation in TARDBP segregates with amyotrophic lateral sclerosis in a large family with early onset and fast progression.
Goldstein O et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020
The NGS technology for the identification of genes associated with the ALS. A systematic review.
Pecoraro V et al.
European Journal of Clinical Investigation, 2020
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
Morais S et al.
European Journal of Human Genetics : Ejhg, 2017
KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth.
Anastasaki C et al.
Oncotarget, 2017
28548933 (PubMed )
Supplement: oncotarget-08-47574-s002.xlsx › Sheet1
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
The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.
Arning L et al.
Neurogenetics, 2013
Investigation of recessive ataxia loci in patients with young age of onset.
Zühlke C et al.
Neuropediatrics, 2007
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