Associated Papers
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list
Genetic landscape of early-onset dementia in Hungary.
Csaban D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
SPG11: clinical and genetic features of seven Czech patients and literature review.
Doleckova K et al.
Neurological Research, 2022
Genes affecting ionizing radiation survival identified through combined exome sequencing and functional screening.
Gupta M et al.
Human Mutation, 2021
Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.
Martinuzzi A et al.
Plos One, 2016
27077743 (PubMed )
Supplement: pone.0153283.s002.pdf
Hereditary spastic paraplegia type 11 with a very late onset.
Rubegni A et al.
Journal of Neurology, 2015
Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.
Yamashita S et al.
Translational Neurodegeneration, 2015
26213621 (PubMed )
Supplement: 40035_2015_36_MOESM1_ESM.xlsx › Sheet1
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Pensato V et al.
Brain : a Journal of Neurology, 2014
Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.
Kenna KP et al.
Human Mutation, 2013
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.
Southgate L et al.
Neurogenetics, 2010
20390432 (PubMed )
Supplement: 10048_2010_243_MOESM2_ESM.pdf
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.
Orlacchio A et al.
Brain : a Journal of Neurology, 2010
Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.
Crimella C et al.
Journal of Medical Genetics, 2009
SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.
Del Bo R et al.
Neurogenetics, 2007
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