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RICHARD MAZZEI, MD

MD

Orthopaedic Surgery Physician

NPI: 1598709297Individual

Specialties, Licenses & Credentials

Orthopaedic Surgery PhysicianPrimary

Orthopaedic Surgery

Code: 207X00000X

010002(ME)

Research & Publications (20)

Conventional MRI and NOTCH3 gene screening in sporadic CADASIL.
PMID 19056668·Neurology·2009
8-other
CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.
PMID 19006080·J Neurosci Res·2009
8-other
A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.
PMID 19253388·Am J Med Genet A·2009
5-case
A step forwards in ethanol selective photo-oxidation.
PMID 19424545·Photochem Photobiol Sci·2009
8-other
Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy.
PMID 18608106·Amyotroph Lateral Scler·2009
8-other
A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL.
PMID 19259619·Neurol Sci·2009
5-case
Cysteine-sparing notch3 mutations: cadasil or cadasil variants?
PMID 19528524·Neurology·2009
8-other
First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL.
PMID 17872982·J Neurol Neurosurg Psychiatry·2008
5-case
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2.
PMID 18336586·Clin Genet·2008
8-other
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy.
PMID 17703939·Neuromuscul Disord·2008
5-case
Gene symbol: NOTCH3.
PMID 17598216·Hum Genet·2007
8-other
Gene symbol: NOTCH3.
PMID 17598243·Hum Genet·2007
8-other
Gene symbol: NOTCH3.
PMID 17598244·Hum Genet·2007
8-other
Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy.
PMID 17368936·Neurosci Lett·2007
8-other
A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies.
PMID 17707409·J Neurol Sci·2007
8-other
Gene symbol: MECP2. Disease: Rett syndrome.
PMID 17128467·Hum Genet·2006
8-other
Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia.
PMID 16684598·Neuromuscul Disord·2006
8-other
Sporadic ALS is not associated with VAPB gene mutations in Southern Italy.
PMID 16729899·J Negat Results Biomed·2006
8-other
Gene symbol: MECP2. Disease: Rett syndrome.
PMID 17128468·Hum Genet·2006
8-other
Comparison of different techniques for detecting 17p12 duplication in CMT1A.
PMID 15941660·Neuromuscul Disord·2005
4-observational

Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.

Contact & Hours

Address
77 BROADWAY
BANGOR, ME 04401

Location

Practice Location

77 BROADWAY, BANGOR, ME
(207) 947-2788

Quick Facts

NPI
1598709297
Entity Type
Individual
Gender
Male
Medicare
Not confirmed
Specialties
1
Locations
1
Publications
20

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