User profiles for R.J. Leventer
Richard LeventerProfessor of Neurology, Royal Children's Hospital, Melbourne Verified email at rch.org.au Cited by 12079 |
Malformations of cortical development and epilepsy
Malformations of cortical development (MCDs) are macroscopic or microscopic abnormalities
of the cerebral cortex that arise as a consequence of an interruption to the normal steps of …
of the cerebral cortex that arise as a consequence of an interruption to the normal steps of …
Definitions and classification of malformations of cortical development: practical guidelines
…, F Triulzi, F Arrigoni, K Mankad, RJ Leventer… - Brain, 2020 - academic.oup.com
Malformations of cortical development are a group of rare disorders commonly manifesting
with developmental delay, cerebral palsy or seizures. The neurological outcome is extremely …
with developmental delay, cerebral palsy or seizures. The neurological outcome is extremely …
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies
Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result
in white matter abnormalities in the central nervous system (CNS). Magnetic resonance (MR) …
in white matter abnormalities in the central nervous system (CNS). Magnetic resonance (MR) …
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients
RJ Leventer, A Jansen, DT Pilz, N Stoodley, C Marini… - Brain, 2010 - academic.oup.com
Polymicrogyria is one of the most common malformations of cortical development and is
associated with a variety of clinical sequelae including epilepsy, intellectual disability, motor …
associated with a variety of clinical sequelae including epilepsy, intellectual disability, motor …
Clinical and imaging features of cortical malformations in childhood
RJ Leventer, EM Phelan, LT Coleman, MJ Kean… - Neurology, 1999 - AAN Enterprises
Objective: To determine the types, relative frequencies, clinical features, and MRI
characteristics of malformations of cortical development (MCD) occurring in a cohort of children …
characteristics of malformations of cortical development (MCD) occurring in a cohort of children …
[PDF][PDF] Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes …
C Cardoso, RJ Leventer, HL Ward, K Toyo-Oka… - The American Journal of …, 2003 - cell.com
Deletions of 17p13.3, including the LIS1 gene, result in the brain malformation lissencephaly,
which is characterized by reduced gyration and cortical thickening; however, the …
which is characterized by reduced gyration and cortical thickening; however, the …
[HTML][HTML] A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Purpose: To prospectively evaluate the diagnostic and clinical utility of singleton whole-exome
sequencing (WES) as a first-tier test in infants with suspected monogenic disease. …
sequencing (WES) as a first-tier test in infants with suspected monogenic disease. …
Developmental trajectories of executive functions across the lifespan
CR De Luca, RJ Leventer - Executive functions and the frontal …, 2010 - taylorfrancis.com
Localization and fractionation 24 Early frontal lobe development: First steps toward the
executive summit 27 Preschool development: The ‘‘why’’years 30 Preadolescence period 33 …
executive summit 27 Preschool development: The ‘‘why’’years 30 Preadolescence period 33 …
[HTML][HTML] Somatic mutations in cerebral cortical malformations
…, IE Scheffer, SF Berkovic, RJ Leventer… - … England Journal of …, 2014 - Mass Medical Soc
Background Although there is increasing recognition of the role of somatic mutations in genetic
disorders, the prevalence of somatic mutations in neurodevelopmental disease and the …
disorders, the prevalence of somatic mutations in neurodevelopmental disease and the …
Radiological differentiation of optic neuritis with myelin oligodendrocyte glycoprotein antibodies, aquaporin-4 antibodies, and multiple sclerosis
…, JDE Parratt, TA Hardy, RJ Leventer… - Multiple Sclerosis …, 2016 - journals.sagepub.com
Background: Recognizing the cause of optic neuritis (ON) affects treatment decisions and
visual outcomes. Objective: We aimed to define radiological features of first-episode …
visual outcomes. Objective: We aimed to define radiological features of first-episode …