Advances in the evaluation and management of cortical/cerebral visual impairment in children
MY Chang, MS Borchert - Survey of ophthalmology, 2020 - Elsevier
Cortical/cerebral visual impairment (CVI) is the most frequent cause of pediatric visual
impairment in developed countries and is increasing in prevalence in developing nations …
impairment in developed countries and is increasing in prevalence in developing nations …
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders
(NDDs), but most of the related pathogenic genes are not known. We sequenced 208 …
(NDDs), but most of the related pathogenic genes are not known. We sequenced 208 …
A systematic review of brain MRI findings in monogenic disorders strongly associated with autism spectrum disorder
V Frewer, CP Gilchrist, SE Collins… - Journal of Child …, 2021 - Wiley Online Library
Background Research on monogenic forms of autism spectrum disorder (autism) can inform
our understanding of genetic contributions to the autism phenotype; yet, there is much to be …
our understanding of genetic contributions to the autism phenotype; yet, there is much to be …
Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP
A Van Dijck, AT Vulto-van Silfhout, E Cappuyns… - Biological …, 2019 - Elsevier
Background In genome-wide screening studies for de novo mutations underlying autism and
intellectual disability, mutations in the ADNP gene are consistently reported among the most …
intellectual disability, mutations in the ADNP gene are consistently reported among the most …
Sexual divergence in microtubule function: the novel intranasal microtubule targeting SKIP normalizes axonal transport and enhances memory
N Amram, G Hacohen-Kleiman, S Sragovich… - Molecular …, 2016 - nature.com
Activity-dependent neuroprotective protein (ADNP), essential for brain formation, is a
frequent autism spectrum disorder (ASD)-mutated gene. ADNP associates with microtubule …
frequent autism spectrum disorder (ASD)-mutated gene. ADNP associates with microtubule …
Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression
Background Intellectual disability (ID), autism, and epilepsy share frequent yet variable
comorbidities with one another. In order to better understand potential genetic divergence …
comorbidities with one another. In order to better understand potential genetic divergence …
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
Background Activity-dependent neuroprotective protein (ADNP) is one of the most prevalent
de novo mutated genes in syndromic autism spectrum disorders, driving a general interest in …
de novo mutated genes in syndromic autism spectrum disorders, driving a general interest in …
The compassionate side of neuroscience: Tony Sermone's undiagnosed genetic journey—ADNP mutation
Some science: searching for brain protective proteins and aiming to unravel genes shaping
our brains, at the turn of the century, we have published our first paper describing the …
our brains, at the turn of the century, we have published our first paper describing the …
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement
G Pascolini, E Agolini, S Majore, A Novelli… - European Journal of …, 2018 - Elsevier
A recent syndromic condition with craniofacial dysmorphisms, comprising congenital ocular
defect and neurodevelopmental delay named Helsmoortel-Van der Aa Syndrome …
defect and neurodevelopmental delay named Helsmoortel-Van der Aa Syndrome …
Activity-dependent neuroprotective protein (ADNP)-end-binding protein (EB) interactions regulate microtubule dynamics toward protection against tauopathy
Y Ivashko-Pachima, I Gozes - Progress in Molecular Biology and …, 2021 - Elsevier
Abstract The 1102-amino-acid activity-dependent neuroprotective protein (ADNP) was
originally discovered by expression cloning through the immunological identification of its 8 …
originally discovered by expression cloning through the immunological identification of its 8 …