Research ExplorerPublicationsCorrelation of enzyme activity and clinical phenotype in POM...

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.

Standard

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies. / Lommel, M; Cirak, S; Willer, T; Hermann, R; Uyanik, Gökhan; van Bokhoven, H; Körner, C; Voit, T; Bari, I; Hehr, U; Strahl, S.

In: NEUROLOGY, Vol. 74, No. 2, 2, 2010, p. 157-164.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Lommel, M, Cirak, S, Willer, T, Hermann, R, Uyanik, G, van Bokhoven, H, Körner, C, Voit, T, Bari, I, Hehr, U & Strahl, S 2010, 'Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.', NEUROLOGY, vol. 74, no. 2, 2, pp. 157-164. <http://www.ncbi.nlm.nih.gov/pubmed/20065251?dopt=Citation>

APA

Lommel, M., Cirak, S., Willer, T., Hermann, R., Uyanik, G., van Bokhoven, H., Körner, C., Voit, T., Bari, I., Hehr, U., & Strahl, S. (2010). Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies. NEUROLOGY, 74(2), 157-164. [2]. http://www.ncbi.nlm.nih.gov/pubmed/20065251?dopt=Citation

Vancouver

Lommel M, Cirak S, Willer T, Hermann R, Uyanik G, van Bokhoven H et al. Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies. NEUROLOGY. 2010;74(2):157-164. 2.

Bibtex

@article{11e3ae0f068841559c69e42450f25b3b,
title = "Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.",
abstract = "Mutations in protein O-mannosyltransferases (POMTs) cause a heterogeneous group of muscular dystrophies with abnormal glycosylation of alpha-dystroglycan (dystroglycanopathies). The wide spectrum of clinical severities ranges from Walker-Warburg syndrome (WWS), associated with brain and eye abnormalities, to mild forms of limb girdle muscular dystrophy (LGMD).",
keywords = "Animals, Humans, Male, Child, Genotype, Cells, Cultured, Mice, DNA Mutational Analysis, Rabbits, Phenotype, Mutation genetics, Genetic Predisposition to Disease genetics, Genetic Testing, Genetic Markers genetics, Down-Regulation genetics, Dystroglycans metabolism, Fibroblasts, Gene Expression Regulation, Enzymologic genetics, Mannosyltransferases genetics, Muscular Dystrophies, Limb-Girdle enzymology, RNA Splice Sites genetics, Animals, Humans, Male, Child, Genotype, Cells, Cultured, Mice, DNA Mutational Analysis, Rabbits, Phenotype, Mutation genetics, Genetic Predisposition to Disease genetics, Genetic Testing, Genetic Markers genetics, Down-Regulation genetics, Dystroglycans metabolism, Fibroblasts, Gene Expression Regulation, Enzymologic genetics, Mannosyltransferases genetics, Muscular Dystrophies, Limb-Girdle enzymology, RNA Splice Sites genetics",
author = "M Lommel and S Cirak and T Willer and R Hermann and G{\"o}khan Uyanik and {van Bokhoven}, H and C K{\"o}rner and T Voit and I Bari and U Hehr and S Strahl",
year = "2010",
language = "Deutsch",
volume = "74",
pages = "157--164",
journal = "NEUROLOGY",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "2",

}

RIS

TY - JOUR

T1 - Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.

AU - Lommel, M

AU - Cirak, S

AU - Willer, T

AU - Hermann, R

AU - Uyanik, Gökhan

AU - van Bokhoven, H

AU - Körner, C

AU - Voit, T

AU - Bari, I

AU - Hehr, U

AU - Strahl, S

PY - 2010

Y1 - 2010

N2 - Mutations in protein O-mannosyltransferases (POMTs) cause a heterogeneous group of muscular dystrophies with abnormal glycosylation of alpha-dystroglycan (dystroglycanopathies). The wide spectrum of clinical severities ranges from Walker-Warburg syndrome (WWS), associated with brain and eye abnormalities, to mild forms of limb girdle muscular dystrophy (LGMD).

AB - Mutations in protein O-mannosyltransferases (POMTs) cause a heterogeneous group of muscular dystrophies with abnormal glycosylation of alpha-dystroglycan (dystroglycanopathies). The wide spectrum of clinical severities ranges from Walker-Warburg syndrome (WWS), associated with brain and eye abnormalities, to mild forms of limb girdle muscular dystrophy (LGMD).

KW - Animals

KW - Humans

KW - Male

KW - Child

KW - Genotype

KW - Cells, Cultured

KW - Mice

KW - DNA Mutational Analysis

KW - Rabbits

KW - Phenotype

KW - Mutation genetics

KW - Genetic Predisposition to Disease genetics

KW - Genetic Testing

KW - Genetic Markers genetics

KW - Down-Regulation genetics

KW - Dystroglycans metabolism

KW - Fibroblasts

KW - Gene Expression Regulation, Enzymologic genetics

KW - Mannosyltransferases genetics

KW - Muscular Dystrophies, Limb-Girdle enzymology

KW - RNA Splice Sites genetics

KW - Animals

KW - Humans

KW - Male

KW - Child

KW - Genotype

KW - Cells, Cultured

KW - Mice

KW - DNA Mutational Analysis

KW - Rabbits

KW - Phenotype

KW - Mutation genetics

KW - Genetic Predisposition to Disease genetics

KW - Genetic Testing

KW - Genetic Markers genetics

KW - Down-Regulation genetics

KW - Dystroglycans metabolism

KW - Fibroblasts

KW - Gene Expression Regulation, Enzymologic genetics

KW - Mannosyltransferases genetics

KW - Muscular Dystrophies, Limb-Girdle enzymology

KW - RNA Splice Sites genetics

M3 - SCORING: Zeitschriftenaufsatz

VL - 74

SP - 157

EP - 164

JO - NEUROLOGY

JF - NEUROLOGY

SN - 0028-3878

IS - 2

M1 - 2

ER -