Associated Papers
Infantile-Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24-25 Deletion: Expanding the Genotypic Spectrum.
Colona VL et al.
American Journal of Medical Genetics. Part A, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
ALS2-related disorders in Spanish children: a severely affected case of infantile ascending spastic paraplegia due to homozygous R704X mutation.
Nogueira E et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
The expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients.
Alves De Siqueira Carvalho A et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022
ALS2-Related Motor Neuron Diseases: From Symptoms to Molecules.
Miceli M et al.
Biology, 2022
ALS2-related disorders in Spanish children.
Nogueira E et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis.
Luigetti M et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013
A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family.
Mintchev N et al.
Neurology, 2009