Tatiana Itzcovich

Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia — Argentina

Biochemistry, Genetics and Molecular Biology · Life Sciences

6h-index173citations26works0.02yr avg
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Research Topics

Genomics and Rare Diseases(13), Amyotrophic Lateral Sclerosis Research(5), Alzheimer's disease research and treatments(4), Dementia and Cognitive Impairment Research(3), Pluripotent Stem Cells Research(3)

Publications26 total

Bridging Science and Care: 14 Years of Genetic and Biomarker Research in Neurodegenerative Diseases at an Argentine Memory Clinic
Alzheimer s & Dementia·2025Open Access
Functional validation of the PSEN1 R358P and PSEN1 T119I variants in Alzheimer's Disease: an in vitro study
Alzheimer s & Dementia·2025Open Access
Clinical and functional evidence supporting the pathogenicity of the novel <i>PSEN1</i> p.R358P variant in early-onset Alzheimer's disease
Journal of Alzheimer s Disease·2025
Generation of a human induced pluripotent stem cell line (INEUi001-A) from an amyotrophic lateral sclerosis/frontotemporal dementia patient with a C9ORF72 G4C2 genotype of &lt;2 (GGGGCCG) and 10 repeats
Stem Cell Research·2023Open Access
Perry disease in an Argentine family due to the DCTN1 p.G67D variant
Parkinsonism & Related Disorders·2022· 7 cited
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects
Genome Medicine·2022· 42 citedOpen Access
Additional file 6 of A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects
Figshare·2022Open Access
Additional file 10 of A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects
Figshare·2022Open Access
Additional file 8 of A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects
Figshare·2022Open Access
Additional file 9 of A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects
Figshare·2022Open Access
Additional file 3 of A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects
Figshare·2022Open Access
Additional file 13 of A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects
Figshare·2022Open Access
Additional file 5 of A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects
Figshare·2022Open Access
Additional file 12 of A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects
Figshare·2022Open Access
Additional file 11 of A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects
Figshare·2022Open Access
Additional file 4 of A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects
Figshare·2022Open Access
Additional file 2 of A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects
Figshare·2022Open Access
Accelerated epigenetic aging in adults with Down Syndrome in the Argentine population
Alzheimer s & Dementia·2021· 1 citedOpen Access
Generation of a human induced pluripotent stem cell line from a familial Alzheimer's disease PSEN1 T119I patient
Stem Cell Research·2021· 5 citedOpen Access
P4‐101: RARE MISSENSE VARIANTS IN <i>TREM2</i> AND <i>ABCA7</i> IN A PATIENT WITH SPORADIC EARLY‐ONSET ALZHEIMER'S DISEASE
Alzheimer s & Dementia·2019Open Access
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Frequent Co-authors

Ezequiel Surace(25), Ricardo Allegri(21), Juliana Acosta‐Uribe(12), David Aguillón(12), J. Nicholas Cochran(12), Margarita Giraldo(12), Lucía Madrigal(12), Bradley W. Killingsworth(12), Rijul Singhal(12), Sarah Labib(12), Diana Alzate(12), Lina Velilla(12), Sonia Moreno(12), Gloria P. García(12), Amanda Saldarriaga(12), Francisco Piedrahita(12), Liliana Hincapié(12), Hugo E. López(12), Nithesh Perumal(12), Leonilde Morelo(12)