The powerful world of antisense oligonucleotides: From bench to bedside

AM Quemener, L Bachelot, A Forestier… - Wiley …, 2020 - Wiley Online Library
Antisense oligonucleotides (ASOs) represent a new and highly promising class of drugs for
personalized medicine. In the last decade, major chemical developments and improvements …

The cerebellar involvement in autism spectrum disorders: from the social brain to mouse models

L Mapelli, T Soda, E D'Angelo, F Prestori - International journal of …, 2022 - mdpi.com
Autism spectrum disorders (ASD) are pervasive neurodevelopmental disorders that include
a variety of forms and clinical phenotypes. This heterogeneity complicates the clinical and …

Identification and evaluation of children with autism spectrum disorders

CP Johnson, SM Myers - Pediatrics, 2007 - publications.aap.org
Autism spectrum disorders are not rare; many primary care pediatricians care for several
children with autism spectrum disorders. Pediatricians play an important role in early …

People with intellectual disability: what do we know about adulthood and life expectancy?

AMW Coppus - Developmental disabilities research reviews, 2013 - Wiley Online Library
Increases in the life expectancy of people with Intellectual Disability have followed similar
trends to those found in the general population. With the exception of people with severe …

Child health, developmental plasticity, and epigenetic programming

Z Hochberg, R Feil, M Constancia, M Fraga… - Endocrine …, 2011 - academic.oup.com
Plasticity in developmental programming has evolved in order to provide the best chances of
survival and reproductive success to the organism under changing environments …

GABAergic interneurons shape the functional maturation of the cortex

C Le Magueresse, H Monyer - Neuron, 2013 - cell.com
From early embryonic development to adulthood, GABA release participates in the
construction of the mammalian cerebral cortex. The maturation of GABAergic …

[图书][B] Chromosome abnormalities and genetic counseling

RJMK Gardner, GR Sutherland, LG Shaffer - 2012 - books.google.com
Chromosome abnormalities have been known for over 50 years, though the methods of
analysis have become increasing more sophisticated and precise. Surprisingly, the …

The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc

PL Greer, R Hanayama, BL Bloodgood, AR Mardinly… - Cell, 2010 - cell.com
Angelman Syndrome is a debilitating neurological disorder caused by mutation of the E3
ubiquitin ligase Ube3A, a gene whose mutation has also recently been associated with …

[HTML][HTML] The genetic causes of male factor infertility: a review

KLO O'brien, AC Varghese, A Agarwal - Fertility and sterility, 2010 - Elsevier
OBJECTIVE: To illustrate the necessity for an enhanced understanding of the genetic basis
of male factor infertility, to present a comprehensive synopsis of these genetic elements, and …

[HTML][HTML] Mammalian HECT ubiquitin-protein ligases: biological and pathophysiological aspects

M Scheffner, S Kumar - Biochimica et Biophysica Acta (BBA)-Molecular …, 2014 - Elsevier
Members of the HECT family of E3 ubiquitin-protein ligases are characterized by a C-
terminal HECT domain that catalyzes the covalent attachment of ubiquitin to substrate …