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MCNEAL BROCKINGTON, M.D.
M.D.
Internal Medicine Physician
NPI: 1669405171Individual
Specialties, Licenses & Credentials
Internal Medicine PhysicianPrimary
Internal Medicine
Code: 207R00000X
D0032904(MD)
Research & Publications (20)
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
PMID 18195152·Arch Neurol·2008
5-case
Muscular dystrophies due to defective glycosylation of dystroglycan.
PMID 18646561·Acta Myol·2007
6-review
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
PMID 17483490·Brain·2007
8-other
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
PMID 17878207·Brain·2007
4-observational
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.
PMID 17044012·Ann Neurol·2006
5-case
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.
PMID 16476814·Arch Neurol·2006
8-other
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.
PMID 17033962·Am J Hum Genet·2006
7-preclinical
Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells.
PMID 16055117·Exp Cell Res·2005
7-preclinical
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.
PMID 16084089·Neuromuscul Disord·2005
8-other
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
PMID 16282977·Nat Genet·2005
8-other
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
PMID 15894594·J Med Genet·2005
5-case
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I.
PMID 16288869·Neuromuscul Disord·2005
4-observational
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.
PMID 15661757·Hum Mol Genet·2005
7-preclinical
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.
PMID 16380615·Neurology·2005
8-other
The modulation of skeletal muscle glycosylation as a potential therapeutic intervention in muscular dystrophies.
PMID 16629056·Acta Myol·2005
6-review
Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3.
PMID 15886997·Hum Genet·2005
8-other
Congenital muscular dystrophy with short stature, proximal contractures and distal laxity.
PMID 15328561·Neuropediatrics·2004
5-case
Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease.
PMID 15313851·Arch Neurol·2004
5-case
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 4 W ROLLING CROSSROADS, SUITE 100
BALTIMORE, MD 21228 - Phone
- (410) 869-0100
Quick Facts
- NPI
- 1669405171
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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