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The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity

Human molecular genetics, 2009-09, Vol.18 (18), p.3452-3461

2009

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Expression of the peptide C4b-binding protein β in the arthritic joint

Annals of the rheumatic diseases, 2006-10, Vol.65 (10), p.1279-1285

2006

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The molecular basis of alkaptonuria

Nature genetics, 1996-09, Vol.14 (1), p.19-24

1996

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The human complement factor H: functional roles, genetic variations and disease associations

Molecular Immunology, 2004-06, Vol.41 (4), p.355-367

2004

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Relevance of complement factor H-related 1 (CFHR1) genotypes in age-related macular degeneration

Investigative ophthalmology & visual science, 2012-03, Vol.53 (3), p.1087-1094

2012

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Structural and Functional Characterization of Factor H Mutations Associated with Atypical Hemolytic Uremic Syndrome

American journal of human genetics, 2002-12, Vol.71 (6), p.1285-1295

2002

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Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy

Human molecular genetics, 2012-10, Vol.21 (19), p.4366-4366

2012

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Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor H

Molecular immunology, 2004-05, Vol.41 (1), p.81-84

SANCHEZCORRAL, P

2004

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Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation

Human molecular genetics, 2003-12, Vol.12 (23), p.3161-3171

2003

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Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora

Neurology, 2007-04, Vol.68 (17), p.1369-1373

2007

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Genetic correlation between plasma levels of C4BP isoforms containing β chains and susceptibility to thrombosis

Journal of medical genetics, 2004-01, Vol.41 (1), p.e5-e5

2004

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Structural and functional analysis of mutations in alkaptonuria

Human molecular genetics, 2000-09, Vol.9 (15), p.2341-2350

2000

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Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene

Journal of medical genetics, 2000-04, Vol.37 (4), p.309-312

2000

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Genetic correlation between plasma levels of C4BP isoforms containing ß chains and susceptibility to thrombosis

Journal of medical genetics, 2004-01, Vol.41 (1), p.e5-e5

2004

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A Novel Protein Tyrosine Phosphatase Gene Is Mutated in Progressive Myoclonus Epilepsy of the Lafora Type (EPM2)

Human molecular genetics, 1999-02, Vol.8 (2), p.345-352

1999

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Genetic polymorphism of human C4-binding protein

The Journal of immunology (1950), 1983-09, Vol.131 (3), p.1565-1569

1983

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Mutational analysis of the HGO gene in Finnish alkaptonuria patients

Journal of medical genetics, 1999-12, Vol.36 (12), p.922-923

1999

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High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots

American journal of human genetics, 2000-11, Vol.67 (5), p.1333-1339

2000

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The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism

American journal of human genetics, 2001-02, Vol.68 (2), p.334-346

2001

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Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria

Molecular genetics and metabolism, 2003-11, Vol.80 (3), p.315-320

2003

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The Human Homogentisate 1,2-Dioxygenase (HGO) Gene

Genomics (San Diego, Calif.), 1997-07, Vol.43 (2), p.115-122

1997

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An integrated map of the human regulator of complement activation (RCA) gene cluster on 1q32

Molecular immunology, 1999-09, Vol.36 (13), p.803-808

1999

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Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions

European journal of human genetics : EJHG, 2000-12, Vol.8 (12), p.946-954

2000

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Genetic determinants of variation in the plasma levels of the C4b-binding protein (C4BP) in Spanish families

Immunogenetics (New York), 2003-03, Vol.54 (12), p.862-866

2003

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Mutation and Polymorphism Analysis of the Human Homogentisate 1,2-Dioxygenase Gene in Alkaptonuria Patients

American journal of human genetics, 1998-04, Vol.62 (4), p.776-784

1998

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The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity

Expression of the peptide C4b-binding protein β in the arthritic joint

The molecular basis of alkaptonuria

The human complement factor H: functional roles, genetic variations and disease associations

Relevance of complement factor H-related 1 (CFHR1) genotypes in age-related macular degeneration

Structural and Functional Characterization of Factor H Mutations Associated with Atypical Hemolytic Uremic Syndrome

Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy

Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor H

Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation

Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora

Genetic correlation between plasma levels of C4BP isoforms containing β chains and susceptibility to thrombosis

Structural and functional analysis of mutations in alkaptonuria

Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene

Genetic correlation between plasma levels of C4BP isoforms containing ß chains and susceptibility to thrombosis

A Novel Protein Tyrosine Phosphatase Gene Is Mutated in Progressive Myoclonus Epilepsy of the Lafora Type (EPM2)

Genetic polymorphism of human C4-binding protein

Mutational analysis of the HGO gene in Finnish alkaptonuria patients

High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots

The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism

Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria

The Human Homogentisate 1,2-Dioxygenase (HGO) Gene

An integrated map of the human regulator of complement activation (RCA) gene cluster on 1q32

Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions

Genetic determinants of variation in the plasma levels of the C4b-binding protein (C4BP) in Spanish families

Mutation and Polymorphism Analysis of the Human Homogentisate 1,2-Dioxygenase Gene in Alkaptonuria Patients

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