Marc C Patterson

Summary

Affiliation: Mayo Clinic
Country: USA

Publications

  1. ncbi Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study
    Marc C Patterson
    Department of Neurology and Pediatrics, Columbia University, NY, USA
    Lancet Neurol 6:765-72. 2007
  2. ncbi Gangliosidoses
    Marc C Patterson
    Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, MN, USA Electronic address
    Handb Clin Neurol 113:1707-8. 2013
  3. ncbi Disease and patient characteristics in NP-C patients: findings from an international disease registry
    Marc C Patterson
    Mayo Clinic, Rochester, MN, USA
    Orphanet J Rare Dis 8:12. 2013
  4. ncbi Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update
    Marc C Patterson
    Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Mol Genet Metab 106:330-44. 2012
  5. ncbi Inborn errors of metabolism for child neurology residents
    Marc C Patterson
    Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Semin Pediatr Neurol 18:95-7. 2011
  6. ncbi Long-term miglustat therapy in children with Niemann-Pick disease type C
    Marc C Patterson
    Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Child Neurol 25:300-5. 2010
  7. ncbi Cerebral and cerebellar white matter abnormalities with magnetic resonance imaging in a child with Feingold syndrome
    Vance T Lehman
    Department of Radiology, Mayo Clinic Graduate School of Medical Education, 200 First St S W, Rochester, MN 55905, USA
    Am J Med Genet A 149:2824-7. 2009
  8. ncbi Spiral analysis in Niemann-Pick disease type C
    Annie W Hsu
    Department of Neurology, Clinical Motor Physiology Laboratory, Columbia University Medical Center, New York, New York, USA
    Mov Disord 24:1984-90. 2009
  9. ncbi A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C
    Marc C Patterson
    Division of Pediatric Neurology, Columbia University College of Physicians and Surgeons; Children's Hospital of New York and The Neurological Institute of New York, Harkness Pavilion, HP-542, 180 Fort Washington Avenue, New York, NY, USA
    Neurologist 9:301-10. 2003
  10. ncbi Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1
    Walter D Park
    Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA
    Hum Mutat 22:313-25. 2003

Collaborators

Detail Information

Publications12

  1. ncbi Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study
    Marc C Patterson
    Department of Neurology and Pediatrics, Columbia University, NY, USA
    Lancet Neurol 6:765-72. 2007
    ..Miglustat is able to cross the blood-brain barrier, and is thus a potential therapy for neurological diseases. We aimed to establish the effect of miglustat on several markers of NPC severity...
  2. ncbi Gangliosidoses
    Marc C Patterson
    Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, MN, USA Electronic address
    Handb Clin Neurol 113:1707-8. 2013
    ..Carrier screening for Tay-Sachs disease has been remarkably successful in reducing the incidence of this disease in the at-risk Ashkenazi population. There are no proven disease-modifying therapies for the gangliosidoses...
  3. ncbi Disease and patient characteristics in NP-C patients: findings from an international disease registry
    Marc C Patterson
    Mayo Clinic, Rochester, MN, USA
    Orphanet J Rare Dis 8:12. 2013
    ..We report data recorded at enrolment in an ongoing international NP-C registry initiated in September 2009 to describe disease natural history, clinical course and treatment experience of NP-C patients in clinical practice settings...
  4. ncbi Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update
    Marc C Patterson
    Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Mol Genet Metab 106:330-44. 2012
    ..Treatment goals and the application of disease-specific therapy with miglustat are also re-evaluated...
  5. ncbi Inborn errors of metabolism for child neurology residents
    Marc C Patterson
    Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Semin Pediatr Neurol 18:95-7. 2011
    ....
  6. ncbi Long-term miglustat therapy in children with Niemann-Pick disease type C
    Marc C Patterson
    Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Child Neurol 25:300-5. 2010
    ..Miglustat stabilized neurological disease progression in pediatric patients with Niemann-Pick disease type C, with comparable safety and tolerability to that observed in adults and juveniles...
  7. ncbi Cerebral and cerebellar white matter abnormalities with magnetic resonance imaging in a child with Feingold syndrome
    Vance T Lehman
    Department of Radiology, Mayo Clinic Graduate School of Medical Education, 200 First St S W, Rochester, MN 55905, USA
    Am J Med Genet A 149:2824-7. 2009
    ..Moreover, it is likely to be observed in the future due to increased use of MR imaging...
  8. ncbi Spiral analysis in Niemann-Pick disease type C
    Annie W Hsu
    Department of Neurology, Clinical Motor Physiology Laboratory, Columbia University Medical Center, New York, New York, USA
    Mov Disord 24:1984-90. 2009
    ..Other features, such as the tightness of loop widths, were normal. Our findings reveal that differing aspects of tremor, Parkinsonism, ataxia, and dystonia are quantifiable in NPC patients...
  9. ncbi A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C
    Marc C Patterson
    Division of Pediatric Neurology, Columbia University College of Physicians and Surgeons; Children's Hospital of New York and The Neurological Institute of New York, Harkness Pavilion, HP-542, 180 Fort Washington Avenue, New York, NY, USA
    Neurologist 9:301-10. 2003
    ..The astute clinician can provide great comfort to families afflicted by NPC by making an accurate diagnosis, notwithstanding the absence of definitive treatment...
  10. ncbi Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1
    Walter D Park
    Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA
    Hum Mutat 22:313-25. 2003
    ..This raises the possibilities of an additional NPC complementation group(s) or non-specificity of the biochemical testing for NPC. These caveats must be considered when offering mutation testing as a clinical service...
  11. ncbi The pathophysiology and mechanisms of NP-C disease
    Stephen L Sturley
    Institute of Human Nutrition, Columbia University Medical Center, New York, NY 10032, USA
    Biochim Biophys Acta 1685:83-7. 2004
    ....
  12. ncbi Therapy of Niemann-Pick disease, type C
    Marc C Patterson
    Division of Pediatric Neurology, Neurological Institute of New York and Columbia University College of Physicians and Surgeons, 180 Fort Washington Avenue, HP 542, New York, NY 10032, USA
    Biochim Biophys Acta 1685:77-82. 2004
    ..More recent insights into the pathophysiology of NPC raise the possibility of small molecule therapies to interdict pathways triggering apoptosis and related routes to cell death and dysfunction...