Associated Papers
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
A Novel Rare PSEN2 Val226Ala in PSEN2 in a Korean Patient with Atypical Alzheimer's Disease, and the Importance of PSEN2 5th Transmembrane Domain (TM5) in AD Pathogenesis.
Yang Y et al.
International Journal of Molecular Sciences, 2024
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.
Berdyński M et al.
Journal of Alzheimer's Disease : Jad, 2022
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Bartoletti-Stella A et al.
Frontiers in Aging Neuroscience, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.
Bagyinszky E et al.
Brain Sciences, 2021
FUS P525L mutation causing amyotrophic lateral sclerosis and movement disorders.
Zhou B et al.
Brain and Behavior, 2020
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.
Saveri P et al.
Cells, 2020
Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.
Giau VV et al.
Scientific Reports, 2019
ALS and CHARGE syndrome: a clinical and genetic study.
Ungaro C et al.
Acta Neurologica Belgica, 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
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.
Suh BC et al.
Molecular Medicine Reports, 2014
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP et al.
Journal of Medical Genetics, 2013
Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene.
Lee SS et al.
Jama Neurology, 2013
The FIG4 gene does not play a major role in causing ALS in Italian patients.
Verdiani S et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013
Proteome-wide analysis of amino acid variations that influence protein lysine acetylation.
Suo SB et al.
Journal of Proteome Research, 2013
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.
Nicholson G et al.
Brain : a Journal of Neurology, 2011