HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Martin Brockington Selected Research

Dystroglycans (Dystroglycan)

12/2010Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle.
10/2008Muscular dystrophies due to glycosylation defects.
1/2008Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
10/2007Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
11/2006Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.
2/2006Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.
12/2005Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I.
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.
11/2003Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
For more, sign up at right for free...

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown:


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