Associated Papers
PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2022
Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.
Bagyinszky E et al.
Diagnostics (basel, Switzerland), 2020
FUS P525L mutation causing amyotrophic lateral sclerosis and movement disorders.
Zhou B et al.
Brain and Behavior, 2020
Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.
Oluwole OG et al.
Bmc Medical Genetics, 2020
Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.
Giau VV et al.
Scientific Reports, 2019
Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.
Bagyinszky E et al.
Neuropsychiatric Disease and Treatment, 2019
ALS and CHARGE syndrome: a clinical and genetic study.
Ungaro C et al.
Acta Neurologica Belgica, 2018
Microphysiological 3D model of amyotrophic lateral sclerosis (ALS) from human iPS-derived muscle cells and optogenetic motor neurons.
Osaki T et al.
Science Advances, 2018
Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia.
Park HJ et al.
Journal of Clinical Neurology (seoul, Korea), 2018
A pathogenic PSEN2 p.His169Asn mutation associated with early-onset Alzheimer's disease.
Giau VV et al.
Clinical Interventions in Aging, 2018
Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease.
Van Giau V et al.
Neuropsychiatric Disease and Treatment, 2018
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Pensato V et al.
Brain : a Journal of Neurology, 2014
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP et al.
Journal of Medical Genetics, 2013
Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.
Puech B et al.
Ophthalmology, 2011
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
Denora PS et al.
Human Mutation, 2009
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Stevanin G et al.
Brain : a Journal of Neurology, 2008