J C Harris
- Advances in understanding behavioral phenotypes in neurogenetic syndromesJames C Harris
Developmental Neuropsychiatry program at the Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Am J Med Genet C Semin Med Genet 154:389-99. 2010..New treatments based on knowledge of underlying neurobiology call for more fine-grained definition of behavior...
- Craniocerebral magnetic resonance imaging measurement and findings in Lesch-Nyhan syndromeJ C Harris
Department of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
Arch Neurol 55:547-53. 1998..To provide the first comprehensive magnetic resonance imaging (MRI) assessment of brain in a series of patients with Lesch-Nyhan syndrome (LNS), with emphasis on basal ganglia measurements...
- Social neuroscience, empathy, brain integration, and neurodevelopmental disordersJames C Harris
Psychiatry and Behavioral Sciences and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Physiol Behav 79:525-31. 2003..MacLean's models laid the groundwork for studies focused on understanding brain functioning in these conditions...
- The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported casesH A Jinnah
Department of Neurology, Johns Hopkins Medical Institutions, Baltimore, MD 21287, USA
Mutat Res 463:309-26. 2000....
- The spectrum of mutations causing HPRT deficiency: an updateH A Jinnah
Department of Neurology, Johns Hopkins Hospital, Baltimore, Maryland 21287, USA
Nucleosides Nucleotides Nucleic Acids 23:1153-60. 2004..The reasons for some apparent exceptions to this proposal are addressed...
- Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiencyD J Schretlen
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
J Int Neuropsychol Soc 7:805-12. 2001..The variants produced scores that were intermediate between those of patients with LND and normal participants on nearly every cognitive measure. We discuss these findings in terms of what is known about the neuropathology of LND...
- Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivoD F Wong
Department of Radiology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Proc Natl Acad Sci U S A 93:5539-43. 1996..To our knowledge, these findings provide the first in vivo documentation of a dopaminergic reduction in LND and illustrate the role of positron emission tomography imaging in investigating neurodevelopmental disorders...
- Ocular motor dysfunction in Lesch-Nyhan diseaseH A Jinnah
Department of Neurology, Johns Hopkins Hospital, Baltimore, MD 21287, USA
Pediatr Neurol 24:200-4. 2001..These disturbances of ocular motility are consistent with dysfunction of the basal ganglia or its connections with ocular motor centers in the prefrontal cortex or midbrain...
- Behavioral aspects of Lesch-Nyhan disease and its variantsDavid J Schretlen
Department of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, Baltimore, MD 21287 7218, USA
Dev Med Child Neurol 47:673-7. 2005..Although patients with LNV typically do not self-injure or display severe aggression, attention problems are common and a few patients demonstrate other behavioral anomalies...
- Delineation of the motor disorder of Lesch-Nyhan diseaseH A Jinnah
Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, USA
Brain 129:1201-17. 2006..Explanations for the differing observations available in the literature are provided, along with a summary of how the motor disorder of LND relates to current understanding of its pathophysiology involving the basal ganglia...
- The motor disorder of classic Lesch-Nyhan diseaseJasper E Visser
Department Neurology, University Hospital St Radboud, Nijmegen, The Netherlands
Nucleosides Nucleotides Nucleic Acids 23:1161-4. 2004..Dystonia was the most frequent and severe movement disorder. At rest, hypotonia was more frequent than hypertonia. These findings are compatible with basal ganglia dysfunction in LND...
- Lesch-Nyhan disease in a female with a clinically normal monozygotic twinLaura De Gregorio
University of California San Diego, La Jolla, CA 92093, USA
Mol Genet Metab 85:70-7. 2005..As in many other reported cases of X-linked diseases, the discordant phenotype of the two monozygous twin sisters suggests that the process responsible for monozygotic twinning can trigger skewed X inactivation...