Research Topics
| Bernard L MariaSummaryAffiliation: University of Florida Country: USA Publications
| Collaborators
|
Detail Information
Publications
Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significanceB L Maria
Department of Pediatrics, University of Florida, Gainesville, USA
J Child Neurol 14:368-76. 1999..A better understanding of the clinical, radiologic, and pathologic features of Joubert syndrome should help uncover the genetic basis for the syndrome...- Clinical features and revised diagnostic criteria in Joubert syndromeB L Maria
Department of Pediatrics, University of Florida, Gainesville, USA
J Child Neurol 14:583-90; discussion 590-1. 1999..We propose a revision in diagnostic criteria for Joubert syndrome... - Primary antiphospholipid syndrome presenting with a branch retinal artery occlusion in a 15-year-old boyMatthew A Saxonhouse
Department of Pediatrics, Shands Children s Hospital, University of Florida, Gainesville 32610 0296, USA
J Child Neurol 17:392-4. 2002..Complete evaluation revealed significant elevations in antiphospholipid antibodies. To our knowledge, there are no cases in children of primary antiphospholipid syndrome presenting with this clinical manifestation... - Ex vivo high-resolution magnetic resonance imaging of the brain in Joubert's syndromeKyle R Padgett
McKnight Brain Institute, Department of Nuclear and Radiological Sciences, University of Florida, Gainesville, USA
J Child Neurol 17:911-3. 2002..The results of this study suggest that high-resolution MRI may be useful in screening the brainstem for malformations that can be studied histologically in a much more targeted fashion... - Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) studyMelissa A Parisi
Department of Pediatrics, University of Washington, School of Medicine, Seattle 98195, USA
J Child Neurol 19:214-8. 2004..Malformation of the hindbrain could result in recruitment of alternative pathways, similar to what has been observed following ischemic injury to the developing or mature central nervous system... - Increased intracranial pressure in a case of pediatric multiple sclerosisBrice J Williams
Department of Neurosciences, Charles P Darby Children s Research Institute, Medical University of South Carolina, Charleston, SC, USA
J Child Neurol 23:699-702. 2008..It is proposed that a large burden of active demyelinating disease may cause increased intracranial pressure, thus providing an additional sound rationale for prompt therapeutic administration of intravenous high-dose steroids... - Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndromeM Vittoria Spampinato
Radiology Department, Medical University of South Carolina, Charleston, South Carolina 29425, USA
Am J Med Genet A 146:1389-94. 2008.... - The face of Joubert syndrome: a study of dysmorphology and anthropometryStephen R Braddock
University of Virginia Pediatrics, Charlottesville, California, USA
Am J Med Genet A 143:3235-42. 2007..Variability and overlap of features in JS and other hindbrain syndromes makes clinical diagnosis difficult and probably reflects genetic heterogeneity within the cohort of patients with the MTS... - Spinal muscular atrophy: classification, diagnosis, management, pathogenesis, and future research directionsFelina V Kostova
Medical University of South Carolina, Charleston, South Carolina, USA
J Child Neurol 22:926-45. 2007..This article summarizes the presentations and includes the verbatim edited transcript of question-and-answer sessions... - Parenting stress and its relationship to the behavior of children with Joubert syndromeJanet E Farmer
Department of Health Psychology, University of Missouri Columbia, USA
J Child Neurol 21:163-7. 2006..Findings provide a better understanding of the impact of child behavior on parents caring for a child with Joubert syndrome... - Oromotor and communication findings in joubert syndrome: further evidence of multisystem apraxiaBarbara A Braddock
Department of Psychological Sciences, University of Missouri-Columbia, USA
J Child Neurol 21:160-3. 2006.... - Tuberous sclerosis complex: pathogenesis, diagnosis, strategies, therapies, and future research directionsBernard L Maria
Children's Research Institute, Medical University of South Carolina, Charleston, SC 29425, USA
J Child Neurol 19:632-42. 2004 - Tuberous sclerosis complex: future research directionsBernard L Maria
J Child Neurol 19:631. 2004 - Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromesJoseph G Gleeson
Division of Pediatric Neurology, Department of Neurosciences, University of California, San Diego, California 92093 0624, USA
Am J Med Genet A 125:125-34; discussion 117. 2004..Proper classification of patients with these variants of the MTS will be essential for localization and identification of mutant genes... - RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disordersF Brancati
Istituto di Ricovero e Cura a Carattere Scientifico, CSS Mendel Institute, Rome, Italy
Clin Genet 74:164-70. 2008..Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%)...