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Martin Brockington Selected Research

Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)

1/2008Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
11/2006Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.
4/2004Defective glycosylation in congenital muscular dystrophies.
2/2004Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies.
12/2003A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
3/2002The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I.

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Martin Brockington Research Topics

Disease

15Muscular Dystrophies (Muscular Dystrophy)
12/2010 - 03/2002
6Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
01/2008 - 03/2002
5Walker-Warburg Syndrome
01/2008 - 11/2002
3Intellectual Disability (Idiocy)
01/2008 - 11/2003
3Muscular Diseases (Myopathy)
08/2007 - 12/2005
2Central Core Myopathy (Central Core Disease)
08/2007 - 11/2006
2Malignant Hyperthermia
08/2007 - 11/2006
2Type 2I Limb-Girdle Muscular Dystrophy
12/2005 - 02/2004
1Myopia
01/2008
1Muscle Weakness
08/2007
1Ophthalmoplegia (External Ophthalmoplegia)
08/2007
1Minicore Myopathy with External Ophthalmoplegia
11/2006
1Cysts
02/2006
1Cerebellar Ataxia (Dysmetria)
12/2005
1Spinocerebellar Degenerations (Marinesco Sjogren Syndrome)
12/2005
1Cataract (Cataracts)
12/2005
1merosin negative Muscular dystrophy congenital
10/2005
1Muscle Hypotonia (Hypotonia)
10/2005
1Contracture
10/2005
1Scleroatonic muscular dystrophy
06/2004
1Cobblestone Lissencephaly
04/2004
1Eye Abnormalities (Eye Abnormality)
11/2003
1Group II Malformations of Cortical Development
11/2002

Drug/Important Bio-Agent (IBA)

13Dystroglycans (Dystroglycan)IBA
12/2010 - 11/2002
8Proteins (Proteins, Gene)FDA Link
08/2007 - 11/2002
7GlycosyltransferasesIBA
12/2010 - 03/2002
4EnzymesIBA
12/2010 - 11/2002
2protein O-mannose beta-1,2-N-acetylglucosaminyltransferaseIBA
01/2008 - 11/2003
2Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
08/2007 - 11/2006
1CalciumIBA
08/2007
1SteroidsIBA
11/2006
1Creatine Kinase (Creatine Phosphokinase)IBA
11/2006
1Laminin (Merosin)IBA
10/2005
1CollagenIBA
06/2004
1Amino AcidsFDA Link
12/2002
1Mutant Proteins (Protein, Mutant)IBA
12/2002
1Muscle Proteins (Muscle Protein)IBA
11/2002