Mayo Clinic
Neurology
Dr. Marc C. Patterson, MD
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Dr. Marc C. Patterson is an expert in the field of Neurology. He graduated from The University of Queensland Medical School. He has 5 awards "America's Top Doctors", "Top Doctors: New York Metro Area", "New York Magazine: Top Doctors", "The Royal Australian College of Ophthalmologists Prize" and "First Class Honors". Marc Patterson has written publications. He has 82 publications published with PubMed. The lastest paper is: 'Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion.'
Publications
- Expanding Phenotypic Spectrum of NKX2-1-Related Disorders-Mitochondrial and Immunologic Dysfunction.
- Acute Encephalopathy With Biphasic Seizures and Late Restricted Diffusion.
- Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium...
- Quo vadis: the re-definition of "inborn metabolic Diseases".
- Too Old for a Diaper! A Child With Diaper Changing-Induced seizures.
- Disease specific therapies in leukodystrophies and leukoencephalopathies.
- Consensus statement on preventive and symptomatic care of leukodystrophy patients.
- Epidural Hematoma in a Patient on Pegylated-L-Asparginase Therapy.
- Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation.
- Proton Magnetic Resonance Spectroscopy as a Probe into the Pathophysiology of Autism Spectrum Disorders (ASD): A Review.
- Disease and patient characteristics in NP-C patients: findings from an international Disease registry.
- Posterior reversible encephalopathy Syndrome and hemorrhage associated with tacrolimus in a pediatric heart transplantation recipient.
- Recommendations for the diagnosis and management of Niemann-Pick Disease type C: an update.
- Measuring to improve: A new rating scale for Batten Disease.
- Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms.
- Inborn errors of metabolism for child neurology residents.
- An unusual presentation of copper metabolism disorder and a possible connection with niemann-pick type C.
- Co-morbidity of Sanfilippo Syndrome type C and D: -2-hydroxyglutaric aciduria.
- Research challenges in central nervous system manifestations of inborn errors of metabolism.
- Movers and shakers: diagnosing neurotransmitter Diseases with CSF.
- Response to immunotherapy in a 20-month-old boy with anti-NMDA receptor encephalitis.
- Miglustat in adult and juvenile patients with Niemann-Pick Disease type C: long-term data from a clinical trial.
- Long-term miglustat therapy in children with Niemann-Pick Disease type C.
- Linear clinical progression, independent of age of onset, in Niemann-Pick Disease, type C.
- Cerebral and cerebellar white matter abnormalities with magnetic resonance imaging in a child with Feingold syndrome.
- Myelination disturbance in a patient with hyperuricemia and hyperserotoninemia combined with 18q deletion Syndrome.
- Miglustat in patients with Niemann-Pick Disease Type C (NP-C): a multicenter observational retrospective cohort study.
- Spiral analysis in Niemann-Pick Disease type C.
- From stargazing chicks to seizing infants: thiamine deficiency redux.
- Subclinical seizures in children diagnosed with localization-related Epilepsy: clinical and EEG characteristics.
- Recommendations on the diagnosis and management of Niemann-Pick Disease type C.
- Limbic encephalitis associated with anti-GAD antibody and common variable immune deficiency.
- IGF system in children with congenital Disorders of glycosylation.
- 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.
- Newborn screening for Krabbe Disease: the New York State model.
- Unraveling the sterol-trafficking defect in Niemann-Pick C Disease.
- Long-term outcome of symptomatic infantile spasms established by video-electroencephalography (EEG) monitoring.
- Cerebellar leukoencephalopathy: most likely histiocytosis-related.
- The frequency of non-epileptic spells in children: results of video-EEG monitoring in a tertiary care center.
- Miglustat for treatment of Niemann-Pick C Disease: a randomised controlled study.
- Kinematic analysis of motor dysfunction in Niemann-Pick type C.
- Scurvy and rickets masked by chronic neurologic illness: revisiting "psychologic malnutrition".
- In memoriam: Manuel Rodriguez Gomez, MD July 4, 1928 - January 21, 2006.
- Pompe Disease diagnosis and management guideline.
- Metabolic mimics: the Disorders of N-linked glycosylation.
- Therapy of Niemann-Pick Disease, type C.
- The pathophysiology and mechanisms of NP-C Disease.
- Rectal biopsy in the diagnosis of neuronal intranuclear hyaline inclusion Disease.
- A riddle wrapped in a mystery: understanding Niemann-Pick Disease, type C.
- Identification of 58 novel mutations in Niemann-Pick Disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
- Mental retardation: X marks the spot.
- Holoprosencephaly: the face predicts the brain; the image predicts its function.
- Childhood-onset Ataxia: testing for large CAG-repeats in SCA2 and SCA7.
- Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
- Violent recurrent ballism associated with infections in two children with static encephalopathy.
- Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)
- Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein Syndrome.
- Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly.
- Screening for "prelysosomal Disorders": carbohydrate-deficient glycoprotein syndromes.
- Broad screening test for sphingolipid-storage Diseases.
- The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo.
- Spinocerebellar Ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion.
- Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's Disease.
- Niemann-Pick C1 Disease gene: homology to mediators of cholesterol homeostasis.
- Severe Hajdu-Cheney Syndrome with upper airway obstruction.
- Angelman''s Syndrome: clinical and electroencephalographic findings.
- Niemann-Pick; type C.
- Successful treatment of intrathecal methotrexate overdose by using ventriculolumbar perfusion and intrathecal instillation of carboxypeptidase G2.
- Childhood dural arteriovenous fistulae of the posterior dural sinuses: three case reports and literature review.
- Diagnosis of Niemann-Pick Disease type C.
- The murine Niemann-Pick type C lesion affects testosterone production.
- Isolated horizontal supranuclear gaze Palsy as a marker of severe systemic involvement in Gaucher's disease.
- Linkage of Niemann-Pick Disease type C to human chromosome 18.
- The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-Pick Disease type C.
- A clinical staging classification for type C Niemann-Pick Disease.
- Progesterone blocks cholesterol translocation from lysosomes.
- Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP Syndrome).
- Muscle Disease in children: a practical approach.
- A medical survey of a South American Indian tribe in the Paraguayan Chaco.
- Correction: Disease and patient characteristics in NP-C patients: findings from an international Disease registry.
- Gangliosidoses.
Schools
THE UNIV OF QUEENSLAND MED SCH HERSTON QLD AUSTRALIA
Royal Brisbane Children39s Hospital Brisbane Australia
Mayo Grad School MedMayo Fndn
Royal Children39s Hospital Pediatric Neurology Brisbane Australia
University Of Queensland
National Institutes of Health Neurometabolic diseases
Conditions Treated
- Ataxia
- Cerebral Palsy
- Concussion
- Convulsions
- View All
Doctors Specialties
- Neurodevelopmental Disabilities
- Neurology
Accepted Insurances
Awards
- America's Top Doctors
- Top Doctors: New York Metro Area
- New York Magazine: Top Doctors
- The Royal Australian College of Ophthalmologists Prize
- First Class Honors
Education
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Mayo School of Graduate Medical Education -
The University of Queensland Medical School
Hospital
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Mayo Clinic - Rochester, Minnesota
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