(DSM5), the core symptoms of ASD comprise deficits in social communication and inter
action, and repetitive and restricted behaviours, which include sensory abnormalities. Novel …

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder mainly affecting
females and is associated with mutations in MECP2, the gene encoding methyl CpG-binding …

Objective: To identify an improved measure of clinical progression in early Huntington disease
(HD) using data from prospective observational cohort studies and placebo group data …

Malignant migrating partial seizures in infancy (MMPEI) is an early onset epileptic encephalopathy
with few known etiologies. We sought to identify a novel cause of MMPEI in a child …

Aim Advances in perinatal care and neuroimaging techniques have increased the detection
of cerebellar malformations (CBMs) in the fetus and young infant. As a result, this has …

OBJECTIVE. The first objective of our study was to describe the prevalence and spectrum of
posterior fossa anomalies over 5 years in a major fetal care center where the referral …

Background and Objectives To report final, 36-month safety and clinical outcomes from the
PD-1101 trial of NBIb-1817 (VY-AADC01) in participants with moderately advanced …

Dominant spinocerebellar ataxias are a rare clinically and genetically heterogeneous group
of neurodegenerative disorders. They are characterized by progressive cerebellar ataxia …

… Research in Dr Khwaja's group related to this manuscript is funded by NIH U54 grants
RR019478 and HD061222. MS is the PI of a clinical trial funded by Novartis, Autism Speaks and …

BACKGROUND AND PURPOSE: Neurodevelopmental disability is common in twins with
TTTS in utero; however, the responsible neuropathology remains uncertain. We proposed to …