Joseph J Higgins

Summary

Affiliation: Center for Human Genetics and Child Neurology
Country: USA

Publications

  1. pmc A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation
    Joseph J Higgins
    Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, 279 Main St, Suite 203A, New Paltz, NY 12561, USA
    Neurology 63:1927-31. 2004
  2. ncbi request reprint An atypical intronic deletion widens the spectrum of mutations in hereditary spastic paraplegia
    J J Higgins
    Laboratory of Neurogenetics, Wadsworth Center, New York State Department of Health, Albany, USA
    Neurology 56:1482-5. 2001
  3. ncbi request reprint HS1-BP3 gene variant is common in familial essential tremor
    Joseph J Higgins
    Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, New Paltz, New York, USA
    Mov Disord 21:306-9. 2006
  4. pmc A variant in the HS1-BP3 gene is associated with familial essential tremor
    J J Higgins
    Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, 279 Main St, Suite 203A, New Paltz, NY 12561, USA
    Neurology 64:417-21. 2005
  5. ncbi request reprint Haplotype analysis at the ETM2 locus in a Singaporean sample with familial essential tremor
    J J Higgins
    Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, New Paltz, NY 12561, USA
    Clin Genet 66:353-7. 2004
  6. ncbi request reprint Candidate genes for recessive non-syndromic mental retardation on chromosome 3p (MRT2A)
    J J Higgins
    Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, 279 Main Street, New Paltz, NY 12561, USA
    Clin Genet 65:496-500. 2004
  7. ncbi request reprint Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3-p24.2
    Joseph J Higgins
    Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, New Paltz, New York 12561, USA
    Am J Med Genet B Neuropsychiatr Genet 127:128-30. 2004
  8. ncbi request reprint Haplotype analysis of the ETM2 locus in familial essential tremor
    Joseph J Higgins
    Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, 279 Main Street, Suite 203A, New Paltz, NY 12561, USA
    Neurogenetics 4:185-9. 2003
  9. doi request reprint Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation
    Joseph J Higgins
    Department of Pediatrics, Division of Pediatric Neurology, New York Presbyterian Hospital, Weill Cornell Medical College, New York, NY 10065, USA
    Neurogenetics 9:219-23. 2008
  10. doi request reprint Temporal and spatial mouse brain expression of cereblon, an ionic channel regulator involved in human intelligence
    Joseph J Higgins
    Department of Pediatrics, Division of Pediatric Neurology, York Presbyterian Hospital, Weill Cornell Medical College, New York, New York 10065, USA
    J Neurogenet 24:18-26. 2010

Collaborators

  • J Jankovic
  • Tetsuo Ashizawa
  • Armin Alaedini
  • Eng King Tan
  • Michel Michaelides
  • Jose Berciano
  • L I Golbe
  • Anjali M Rajadhyaksha
  • Sina Moeller
  • Robert Trobliger
  • Michael R Speicher
  • Nga M Lau
  • Dan Hellberg
  • Peter H R Green
  • Barry E Kosofsky
  • Maureen Byrne
  • Anni S Lee
  • Mariel Duboff
  • Chingwen Yang
  • Bojana Zupan
  • Miklos Toth
  • Stephen Ra
  • Zeeba R Daruwalla
  • Sarah Kishinevsky
  • Peter Romanienko
  • Willie Mark
  • JENNY Z XIANG
  • Richard H Grayson
  • Kathryn C Schierberl
  • Olivier Elemento
  • Maria L Putorti
  • Bernard Brais
  • Chantal Poulin
  • Charles M Zaroff
  • Richard G Weleber
  • Erik G Puffenberger

Detail Information

Publications16

  1. pmc A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation
    Joseph J Higgins
    Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, 279 Main St, Suite 203A, New Paltz, NY 12561, USA
    Neurology 63:1927-31. 2004
    ..Identifying the genetic factors that contribute to memory and learning is limited by the complexity of brain development and the lack of suitable human models for mild disorders of cognition...
  2. ncbi request reprint An atypical intronic deletion widens the spectrum of mutations in hereditary spastic paraplegia
    J J Higgins
    Laboratory of Neurogenetics, Wadsworth Center, New York State Department of Health, Albany, USA
    Neurology 56:1482-5. 2001
    ..To identify the genetic mutation responsible for autosomal dominant spastic paraplegia (HSP) in a large family with a "pure" form of the disorder...
  3. ncbi request reprint HS1-BP3 gene variant is common in familial essential tremor
    Joseph J Higgins
    Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, New Paltz, New York, USA
    Mov Disord 21:306-9. 2006
    ..The HS1-BP3 gene plays a putative role in regulating catecholamine and serotonin metabolism, but the functional consequences of the amino acid substitution (A265G) caused by this genetic variant is unknown...
  4. pmc A variant in the HS1-BP3 gene is associated with familial essential tremor
    J J Higgins
    Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, 279 Main St, Suite 203A, New Paltz, NY 12561, USA
    Neurology 64:417-21. 2005
    ..1 (ETM2). Linkage disequilibrium studies in separate population samples from the United States and Singapore suggest an association between ET and loci at ETM2...
  5. ncbi request reprint Haplotype analysis at the ETM2 locus in a Singaporean sample with familial essential tremor
    J J Higgins
    Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, New Paltz, NY 12561, USA
    Clin Genet 66:353-7. 2004
    ..8% of elderly Singaporean controls (p = 0.0005). Haplotype studies in two different population samples suggest that a disease locus for ET lies near or within the 100-kb interval between the loci etm1231 and APOB...
  6. ncbi request reprint Candidate genes for recessive non-syndromic mental retardation on chromosome 3p (MRT2A)
    J J Higgins
    Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, 279 Main Street, New Paltz, NY 12561, USA
    Clin Genet 65:496-500. 2004
    ..The results suggest that a mutation does not exist in these genes and that an unknown transcript in the region contributes to the cognitive deficits in NSMR...
  7. ncbi request reprint Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3-p24.2
    Joseph J Higgins
    Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, New Paltz, New York 12561, USA
    Am J Med Genet B Neuropsychiatr Genet 127:128-30. 2004
    ..This physical map will provide a template for genomic sequencing and the identification of a gene for essential tremor...
  8. ncbi request reprint Haplotype analysis of the ETM2 locus in familial essential tremor
    Joseph J Higgins
    Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, 279 Main Street, Suite 203A, New Paltz, NY 12561, USA
    Neurogenetics 4:185-9. 2003
    ..0063, n=35). This study provides evidence that an ancestral haplotype on chromosome 2p24.1 segregates with the ET disease phenotype in individuals with a family history of the disorder and will facilitate the search for a causative gene...
  9. doi request reprint Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation
    Joseph J Higgins
    Department of Pediatrics, Division of Pediatric Neurology, New York Presbyterian Hospital, Weill Cornell Medical College, New York, NY 10065, USA
    Neurogenetics 9:219-23. 2008
    ..Such alterations may contribute to cognitive impairments in patients with mild ARNSMR...
  10. doi request reprint Temporal and spatial mouse brain expression of cereblon, an ionic channel regulator involved in human intelligence
    Joseph J Higgins
    Department of Pediatrics, Division of Pediatric Neurology, York Presbyterian Hospital, Weill Cornell Medical College, New York, New York 10065, USA
    J Neurogenet 24:18-26. 2010
    ..The results suggest that mutCRBN may cause ARNSID by disrupting the developmental regulation of BK(Ca) in brain regions that are critical for memory and learning...
  11. doi request reprint Behavioral characterization of cereblon forebrain-specific conditional null mice: a model for human non-syndromic intellectual disability
    Anjali M Rajadhyaksha
    Department of Pediatrics, Division of Pediatric Neurology, New York Presbyterian Hospital, Laboratory of Molecular and Developmental Neurobiology, Weill Cornell Medical College, 1300 York Avenue, New York, NY 10065, USA
    Behav Brain Res 226:428-34. 2012
    ....
  12. pmc Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa
    Anjali M Rajadhyaksha
    Department of Pediatrics, New York Presbyterian Hospital, Weill Cornell Medical College, New York, 10065, USA
    Am J Hum Genet 87:643-54. 2010
    ..This finding broadens the molecular basis of sensory neural signaling to include common mechanisms that involve proprioception and vision...
  13. pmc Lack of association between autism and anti-GM1 ganglioside antibody
    Sina Moeller
    From the Department of Medicine S M, N M L, P H R G, A A, Columbia University Medical Center, New York, NY Center for Clinical Research D H, Uppsala University, Falun, Sweden and Departments of Pediatrics J J H, A M R and Neurology and Neuroscience A M R, Weill Cornell Medical College, New York, NY
    Neurology 81:1640-1. 2013
    ....
  14. doi request reprint A nonverbal learning disability in a case of central hypoventilation syndrome without a PHOX2B gene mutation
    Robert Trobliger
    Neuropsychology, Northeast Regional Epilepsy Group, White Plains, New York, USA
    Child Neuropsychol 16:202-8. 2010
    ..Defining the psycho-educational needs in CCHS may avert compounding the emotional and medical stresses of this already debilitating disorder...
  15. ncbi request reprint Hybridize and personalize: the new age of syndromal mental retardation diagnostics
    Michael R Speicher
    Neurology 68:721-2. 2007
  16. ncbi request reprint X-linked oligophrenic vermian dysgenesis: syndromic vs non-syndromic X-linked mental retardation?
    Joseph J Higgins
    Neurology 65:1346-7. 2005