PSEN1 c.1292C<A Variant and Early-Onset Alzheimer’s Disease: A Scoping Review

“My backpack is so heavy”: Experiences of Latino caregivers of family with early‐onset Alzheimer's

(2021) Mellissa Withers et al.   JOURNAL OF THE AMERICAN GERIATRICS SOCIETY

Patient-derived iPSCs, a reliable in vitro model for the investigation of Alzheimer’s disease

(2021) Asiamah Ernest Amponsah et al.   REVIEWS IN THE NEUROSCIENCES

The PRISMA 2020 statement: an updated guideline for reporting systematic reviews

(2021) Matthew J Page et al.   BMJ-British Medical Journal

Dementia prevention, intervention, and care: 2020 report of the Lancet Commission

(2020) Gill Livingston et al.   LANCET

Primary Progressive Aphasia has a Unique Signature Distinct from Dementia of the Alzheimer’s Type and Behavioral Variant Frontotemporal Dementia Regardless of Pathology

(2020) Tamar Gefen et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes

(2020) Jorge J. Llibre‐Guerra et al.   Alzheimers & Dementia

Autosomal dominant early onset Alzheimer's disease in the Mexican state of Jalisco: High frequency of the mutation PSEN1 c. 1292C >A and phenotypic profile of patients

(2020) Sofia Dumois‐Petersen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Reaction time and response inhibition in autosomal dominant Alzheimer’s disease

(2020) Luis D. Medina et al.   BRAIN AND COGNITION

Homozygosity for the A431E mutation in PSEN1 presenting with a relatively aggressive phenotype

(2019) John Parker et al.   NEUROSCIENCE LETTERS

A mixed-methods study of cultural beliefs about dementia and genetic testing among Mexicans and Mexican-Americans at-risk for autosomal dominant Alzheimer’s disease

(2019) Mellissa Withers et al.   Journal of Genetic Counseling

High-precision plasma β-amyloid 42/40 predicts current and future brain amyloidosis

(2019) Suzanne E. Schindler et al.   NEUROLOGY

Clinical Association of White Matter Hyperintensities Localization in a Mexican Family with Spastic Paraparesis Carrying the PSEN1 A431E Mutation

(2019) Rosalía A. Santos-Mandujano et al.   JOURNAL OF ALZHEIMERS DISEASE

1H MRS spectroscopy in preclinical autosomal dominant Alzheimer disease

(2018) Elizabeth Joe et al.   Brain Imaging and Behavior

Impairment of memory generalization in preclinical autosomal dominant Alzheimer's disease mutation carriers

(2018) Jessica R. Petok et al.   NEUROBIOLOGY OF AGING

Presenilin-1 Mutations in Alzheimer's Disease: An Update on Genotype-Phenotype Relationships

(2018) A.J. Larner   JOURNAL OF ALZHEIMERS DISEASE

Post-Translational Modifications in Alzheimer's Disease and the Potential for New Biomarkers

(2018) Claire L. Russell et al.   JOURNAL OF ALZHEIMERS DISEASE

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Genotype-Phenotype Relationships of Presenilin-1 Mutations in Alzheimer's Disease: An Update

(2017) Andrew J. Larner et al.   JOURNAL OF ALZHEIMERS DISEASE

Evidence for Mitochondrial UPR Gene Activation in Familial and Sporadic Alzheimer's Disease

(2016) John S. Beck et al.   Current Alzheimer Research

Neuropathology of Autosomal Dominant Alzheimer Disease in the National Alzheimer Coordinating Center Database

(2016) John M. Ringman et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Widespread white matter and conduction defects in PSEN1- related spastic paraparesis

(2016) Steffan K. Soosman et al.   NEUROBIOLOGY OF AGING

Cerebrospinal Fluid Biomarkers in Familial Forms of Alzheimer's Disease and Frontotemporal Dementia

(2015) Nina Rostgaard et al.   DEMENTIA AND GERIATRIC COGNITIVE DISORDERS

Genetic Heterogeneity in Alzheimer Disease and Implications for Treatment Strategies

(2014) John M. Ringman et al.   Current Neurology and Neuroscience Reports

The Genetics of Alzheimer Disease

(2013) R. E. Tanzi   Cold Spring Harbor Perspectives in Medicine

Fluid Biomarkers in Alzheimer Disease

(2013) K. Blennow et al.   Cold Spring Harbor Perspectives in Medicine

The Neuropsychological Profile of Alzheimer Disease

(2013) S. Weintraub et al.   Cold Spring Harbor Perspectives in Medicine

Clinical, Biological, and Imaging Features of Monogenic Alzheimer’s Disease

(2013) Andrea Pilotto et al.   Biomed Research International

Plasma Signaling Proteins in Persons at Genetic Risk for Alzheimer Disease

(2012) John M. Ringman et al.   ARCHIVES OF NEUROLOGY

Proteomic Changes in Cerebrospinal Fluid of Presymptomatic and Affected Persons Carrying Familial Alzheimer Disease Mutations

(2012) John M. Ringman   ARCHIVES OF NEUROLOGY

Cerebrospinal Fluid Biomarkers and Proximity to Diagnosis in Preclinical Familial Alzheimer's Disease

(2012) John M. Ringman et al.   DEMENTIA AND GERIATRIC COGNITIVE DISORDERS

Plasma Methionine Sulfoxide in Persons with Familial Alzheimer’s Disease Mutations

(2012) John M. Ringman et al.   DEMENTIA AND GERIATRIC COGNITIVE DISORDERS

Memory performance and fMRI signal in presymptomatic familial Alzheimer's disease

(2012) Meredith N. Braskie et al.   HUMAN BRAIN MAPPING

Comparison of clinical characteristics between familial and non-familial early onset Alzheimer’s disease

(2012) Aditi Joshi et al.   JOURNAL OF NEUROLOGY

Regional brain volume differences in symptomatic and presymptomatic carriers of familial Alzheimer's disease mutations

(2012) Grace J Lee et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Clinical and Biomarker Changes in Dominantly Inherited Alzheimer's Disease

(2012) Randall J. Bateman et al.   NEW ENGLAND JOURNAL OF MEDICINE

The diagnosis of dementia due to Alzheimer’s disease: Recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer's disease

(2011) Guy M. McKhann et al.   Alzheimers & Dementia

Propositional Density and Apolipoprotein E Genotype among Persons at Risk for Familial Alzheimer’s Disease

(2011) Luis D. Medina et al.   DEMENTIA AND GERIATRIC COGNITIVE DISORDERS

Cortical and Hippocampal Atrophy in Patients with Autosomal Dominant Familial Alzheimer’s Disease

(2011) Liana G. Apostolova et al.   DEMENTIA AND GERIATRIC COGNITIVE DISORDERS

A Window into the Heterogeneity of Human Cerebrospinal Fluid AβPeptides

(2011) Roberta Ghidoni et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

Cerebrospinal Fluid Biomarkers for Alzheimer’s Disease: The Present and the Future

(2011) Roberta Ghidoni et al.   Neurodegenerative Diseases

Effects of Risk Genes on BOLD Activation in Presymptomatic Carriers of Familial Alzheimer's Disease Mutations during a Novelty Encoding Task

(2010) J. M. Ringman et al.   CEREBRAL CORTEX

Insensitivity of visual assessment of hippocampal atrophy in familial Alzheimer’s disease

(2010) John Matthew Ringman et al.   JOURNAL OF NEUROLOGY

Distinct cerebrospinal fluid amyloid β peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease

(2010) Erik Portelius et al.   Molecular Neurodegeneration

Increased fMRI signal with age in familial Alzheimer's disease mutation carriers

(2010) Meredith N. Braskie et al.   NEUROBIOLOGY OF AGING

Caspase-6 Activation in Familial Alzheimer Disease Brains Carrying Amyloid Precursor Protein or Presenilin I or Presenilin II Mutations

(2009) Steffen Albrecht et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Cortical event-related potentials in preclinical familial Alzheimer disease

(2009) E. J. Golob et al.   NEUROLOGY

Increased Prevalence of Significant Recurrent Headache in Preclinical Familial Alzheimer’s Disease Mutation Carriers

(2008) John M. Ringman et al.   DEMENTIA AND GERIATRIC COGNITIVE DISORDERS

Histopathological and molecular heterogeneity among individuals with dementia associated with Presenilin mutations

(2008) Chera L Maarouf et al.   Molecular Neurodegeneration

Biochemical markers in persons with preclinical familial Alzheimer disease

(2008) J. M. Ringman et al.   NEUROLOGY