The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings
Published 2017 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings
Authors
Keywords
-
Journal
Frontiers in Endocrinology
Volume 8, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2017-05-19
DOI
10.3389/fendo.2017.00107
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation inADNPgene
- (2016) Małgorzata Krajewska-Walasek et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Facing the times: A young onset dementia support group: FacebookTMstyle
- (2016) Denise Craig et al. AUSTRALASIAN JOURNAL ON AGEING
- D-SAL and NAP: Two Peptides Sharing a SIP Domain
- (2016) Illana Gozes et al. JOURNAL OF MOLECULAR NEUROSCIENCE
- Comprehensive molecular testing in patients with high functioning autism spectrum disorder
- (2016) Maria Isabel Alvarez-Mora et al. MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
- A systematic variant annotation approach for ranking genes associated with autism spectrum disorders
- (2016) Eric Larsen et al. Molecular Autism
- The Compassionate Side of Neuroscience: Tony Sermone’s Undiagnosed Genetic Journey—ADNP Mutation
- (2015) Illana Gozes et al. JOURNAL OF MOLECULAR NEUROSCIENCE
- Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms
- (2015) Alissa M. D’Gama et al. NEURON
- Low load for disruptive mutations in autism genes and their biased transmission
- (2015) Ivan Iossifov et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Risperidone and NAP protect cognition and normalize gene expression in a schizophrenia mouse model
- (2015) Sinaya Vaisburd et al. Scientific Reports
- Activity-dependent neuroprotective protein (ADNP) exhibits striking sexual dichotomy impacting on autistic and Alzheimer’s pathologies
- (2015) A Malishkevich et al. Translational Psychiatry
- The transcriptional regulatorADNPlinks the BAF (SWI/SNF) complexes with autism
- (2014) Geert Vandeweyer et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- New horizons in schizophrenia treatment: autophagy protection is coupled with behavioral improvements in a mouse model of schizophrenia
- (2014) Avia Merenlender-Wagner et al. Autophagy
- Expansion of the clinical phenotype associated with mutations inactivity-dependent neuroprotective protein
- (2014) Matthew F Pescosolido et al. JOURNAL OF MEDICAL GENETICS
- The NAP motif of activity-dependent neuroprotective protein (ADNP) regulates dendritic spines through microtubule end binding proteins
- (2014) S Oz et al. MOLECULAR PSYCHIATRY
- Synaptic, transcriptional and chromatin genes disrupted in autism
- (2014) Silvia De Rubeis et al. NATURE
- Large-scale discovery of novel genetic causes of developmental disorders
- (2014) T. W. Fitzgerald et al. NATURE
- A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
- (2014) Céline Helsmoortel et al. NATURE GENETICS
- Refining analyses of copy number variation identifies specific genes associated with developmental delay
- (2014) Bradley P Coe et al. NATURE GENETICS
- Novel Marker for the Onset of Frontotemporal Dementia: Early Increase in Activity-Dependent Neuroprotective Protein (ADNP) in the Face of Tau Mutation
- (2014) Yulie Schirer et al. PLoS One
- The rescue of microtubule-dependent traffic recovers mitochondrial function in Parkinson's disease
- (2013) A.R. Esteves et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- A Double-Blind, Placebo-Controlled, Ascending-Dose, Randomized Study to Evaluate the Safety, Tolerability and Effects on Cognition of AL-108 after 12 Weeks of Intranasal Administration in Subjects with Mild Cognitive Impairment
- (2013) Bruce H. Morimoto et al. DEMENTIA AND GERIATRIC COGNITIVE DISORDERS
- Autophagy has a key role in the pathophysiology of schizophrenia
- (2013) A Merenlender-Wagner et al. MOLECULAR PSYCHIATRY
- NAP (davunetide) rescues neuronal dysfunction in a Drosophila model of tauopathy
- (2013) S Quraishe et al. MOLECULAR PSYCHIATRY
- NAP (davunetide) modifies disease progression in a mouse model of severe neurodegeneration: Protection against impairments in axonal transport
- (2013) Yan Jouroukhin et al. NEUROBIOLOGY OF DISEASE
- Effects of Davunetide on N-acetylaspartate and Choline in Dorsolateral Prefrontal Cortex in Patients with Schizophrenia
- (2013) L Fredrik Jarskog et al. NEUROPSYCHOPHARMACOLOGY
- Davunetide: a review of safety and efficacy data with a focus on neurodegenerative diseases
- (2013) Bruce H Morimoto et al. Expert Review of Clinical Pharmacology
- Novel Evolutionary-conserved Role for the Activity-dependent Neuroprotective Protein (ADNP) Family That Is Important for Erythropoiesis
- (2012) Efrat Dresner et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Autism-related deficits via dysregulated eIF4E-dependent translational control
- (2012) Christos G. Gkogkas et al. NATURE
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
- (2012) Brian J. O’Roak et al. NATURE
- Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
- (2012) B. J. O'Roak et al. SCIENCE
- HP1 Recruits Activity-Dependent Neuroprotective Protein to H3K9me3 Marked Pericentromeric Heterochromatin for Silencing of Major Satellite Repeats
- (2011) Kerstin Mosch et al. PLoS One
- Effect of the neuroprotective peptide davunetide (AL-108) on cognition and functional capacity in schizophrenia
- (2011) Daniel C. Javitt et al. SCHIZOPHRENIA RESEARCH
- Neuroprotective effects of NAP against excitotoxic brain damage in the newborn mice: implications for cerebral palsy
- (2010) P. Sokolowska et al. NEUROSCIENCE
- NAP (davunetide) enhances cognitive behavior in the STOP heterozygous mouse—A microtubule-deficient model of schizophrenia
- (2010) Avia Merenlender-Wagner et al. PEPTIDES
- Separating derived from ancestral features of mouse and human genomes
- (2009) Chris P. Ponting et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- Addressing Alzheimers Disease Tangles: From NAP to AL-108
- (2009) Illana Gozes et al. Current Alzheimer Research
- NAP protects memory, increases soluble tau and reduces tau hyperphosphorylation in a tauopathy model
- (2009) Natalia Shiryaev et al. NEUROBIOLOGY OF DISEASE
- ADNP Differential Nucleus/Cytoplasm Localization in Neurons Suggests Multiple Roles in Neuronal Differentiation and Maintenance
- (2008) Shmuel Mandel et al. JOURNAL OF MOLECULAR NEUROSCIENCE
- A Neuronal Microtubule-Interacting Agent, NAPVSIPQ, Reduces Tau Pathology and Enhances Cognitive Function in a Mouse Model of Alzheimer's Disease
- (2008) Y. Matsuoka et al. JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS
- Complete Sequence of a Novel Protein Containing a Femtomolar-Activity-Dependent Neuroprotective Peptide
- (2003) Merav Bassan et al. JOURNAL OF NEUROCHEMISTRY
Become a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get StartedAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started