List of works - Marc C. Patterson

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

scientific article

Pompe disease diagnosis and management guideline.

scientific article

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

scientific article published on 08 May 2012

Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

scientific article published on October 2003

Recommendations on the diagnosis and management of Niemann-Pick disease type C.

scientific article published on 14 June 2009

Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C

scientific article

Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial

scientific article

Neurology of inherited glycosylation disorders

scientific article

Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study

scientific article published on 4 August 2009

Newborn screening for Krabbe disease: the New York State model.

scientific article published in April 2009

The pathophysiology and mechanisms of NP-C disease.

scientific article published in October 2004

Long-term miglustat therapy in children with Niemann-Pick disease type C.

scientific article published on 12 October 2009

Broad screening test for sphingolipid-storage diseases

scientific article published in September 1999

Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.

scientific article published on 18 April 2012

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

scientific article published on April 2013

Case definition and classification of leukodystrophies and leukoencephalopathies

scientific article

The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York

scientific article

Neurological aspects of human glycosylation disorders

scientific article

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

scientific article

Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease.

scientific article published in October 1997

Cognitive impairment occurs in children and adolescents with multiple sclerosis: results from a United States network

scientific article published on 15 November 2012

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

scientific article published on 16 June 2013

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

scientific article

Therapy of Niemann-Pick disease, type C.

scientific article published in October 2004

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

scientific article published on 28 May 2015

A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C.

scientific article published on November 2003

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

scientific article published on July 2002

Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion

scientific article published on October 1998

Proton magnetic resonance spectroscopy as a probe into the pathophysiology of autism spectrum disorders (ASD): a review.

scientific article

IGF system in children with congenital disorders of glycosylation.

scientific article published on 22 January 2009

Response to immunotherapy in a 20-month-old boy with anti-NMDA receptor encephalitis

scientific article

Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms

scientific article

Limbic encephalitis associated with anti-GAD antibody and common variable immune deficiency

scientific article published on 3 February 2009

Disease specific therapies in leukodystrophies and leukoencephalopathies

scientific article

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.

scientific article published on 21 June 2013

Spiral analysis in Niemann-Pick disease type C.

scientific article

Correlations between in vitro dissolution, in vivo bioavailability and hypoglycaemic effect of oral glibenclamide

scientific article published on 01 January 1986

Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene

scientific article (publication date: 15 May 2003)

Quo vadis: the re-definition of "inborn metabolic diseases"

scientific article published on 29 September 2015

Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.

scientific article

Angelman's syndrome: clinical and electroencephalographic findings

scientific article published in April 1997

Scurvy and rickets masked by chronic neurologic illness: revisiting "psychologic malnutrition".

scientific article published in March 2007

Research challenges in central nervous system manifestations of inborn errors of metabolism

scientific article published on December 2, 2010

Cerebellar leukoencephalopathy: most likely histiocytosis-related

scientific article published on October 2008

Posterior reversible encephalopathy syndrome and hemorrhage associated with tacrolimus in a pediatric heart transplantation recipient

scientific article published on 17 January 2013

Neurotransmitter abnormalities and response to supplementation in SPG11.

scientific article

The US Network of Pediatric Multiple Sclerosis Centers: Development, Progress, and Next Steps

scientific article

Consensus statement on preventive and symptomatic care of leukodystrophy patients

scientific article published on 27 December 2014

Kinematic analysis of motor dysfunction in Niemann-Pick type C.

scientific article published on 27 February 2007

Niemann-Pick disease, type C and Roscoe Brady

scientific article published on 29 November 2016

List of works by Marc C. Patterson

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

Pompe disease diagnosis and management guideline.

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

Recommendations on the diagnosis and management of Niemann-Pick disease type C.

Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C

Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial

Neurology of inherited glycosylation disorders

Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study

Newborn screening for Krabbe disease: the New York State model.

The pathophysiology and mechanisms of NP-C disease.

Long-term miglustat therapy in children with Niemann-Pick disease type C.

Broad screening test for sphingolipid-storage diseases

Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

Case definition and classification of leukodystrophies and leukoencephalopathies

The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York

Neurological aspects of human glycosylation disorders

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease.

Cognitive impairment occurs in children and adolescents with multiple sclerosis: results from a United States network

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

Therapy of Niemann-Pick disease, type C.

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C.

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion

Proton magnetic resonance spectroscopy as a probe into the pathophysiology of autism spectrum disorders (ASD): a review.

IGF system in children with congenital disorders of glycosylation.

Response to immunotherapy in a 20-month-old boy with anti-NMDA receptor encephalitis

Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms

Limbic encephalitis associated with anti-GAD antibody and common variable immune deficiency

Disease specific therapies in leukodystrophies and leukoencephalopathies

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.

Spiral analysis in Niemann-Pick disease type C.

Correlations between in vitro dissolution, in vivo bioavailability and hypoglycaemic effect of oral glibenclamide

Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene

Quo vadis: the re-definition of "inborn metabolic diseases"

Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.

Angelman's syndrome: clinical and electroencephalographic findings

Scurvy and rickets masked by chronic neurologic illness: revisiting "psychologic malnutrition".

Research challenges in central nervous system manifestations of inborn errors of metabolism

Cerebellar leukoencephalopathy: most likely histiocytosis-related

Posterior reversible encephalopathy syndrome and hemorrhage associated with tacrolimus in a pediatric heart transplantation recipient

Neurotransmitter abnormalities and response to supplementation in SPG11.

The US Network of Pediatric Multiple Sclerosis Centers: Development, Progress, and Next Steps

Consensus statement on preventive and symptomatic care of leukodystrophy patients

Kinematic analysis of motor dysfunction in Niemann-Pick type C.

Niemann-Pick disease, type C and Roscoe Brady