(Q48259029)

10 February 2018

title

Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents (English)

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10 February 2018

congenital muscular dystrophy

main subject

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6

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10 February 2018

Anna-Elina Lehesjoki

8

object named as

Anna-Elina Lehesjoki

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10 February 2018

12

Haluk Topaloglu

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10 February 2018

Wenli Zhang

1

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10 February 2018

Jiri Vajsar

2

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10 February 2018

Pinjiang Cao

3

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10 February 2018

Galen Breningstall

4

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10 February 2018

Charlotta Diesen

5

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10 February 2018

Ralph Herrmann

7

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10 February 2018

Alice Steinbrecher

9

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10 February 2018

Beril Talim

10

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10 February 2018

Tatsushi Toda

11

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Thomas Voit

13

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Harry Schachter

14

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10 February 2018

publication date

1 July 2003

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10 February 2018

published in

Clinical Biochemistry

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10 February 2018

volume

36

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10 February 2018

issue

5

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10 February 2018

page(s)

339-344

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10 February 2018

The complexities of dystroglycan

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A role for dystroglycan in basement membrane assembly

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Biosynthesis of dystroglycan: processing of a precursor propeptide

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Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix

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Characterization of dp6troglycan-laminin interaction in peripheral nerve.

7 January 2021

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A role of dystroglycan in schwannoma cell adhesion to laminin

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alpha-Dystroglycan is a laminin receptor involved in extracellular matrix assembly on myotubes and muscle cell viability.

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Severe classical congenital muscular dystrophy and merosin expression.

7 January 2021

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Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.

7 January 2021

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Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

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Defective glycosylation in muscular dystrophy

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Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy

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High prevalence of 2-mono- and 2,6-di-substituted manol-terminating sequences among O-glycans released from brain glycopeptides by reductive alkaline hydrolysis

7 January 2021

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Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve alpha-dystroglycan. The role of a novel O-mannosyl-type oligosaccharide in the binding of alpha-dystroglycan with laminin

7 January 2021

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Detection of O-mannosyl glycans in rabbit skeletal muscle alpha-dystroglycan

7 January 2021

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Cloning and expression of a novel UDP-GlcNAc:α-d-mannoside β1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:α-3-d-mannoside β1,2-N-acetylglucosaminyltransferase I

7 January 2021

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Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

7 January 2021

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Muscle-eye-brain disease: a neuropathological study

7 January 2021

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Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping

7 January 2021

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Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease

7 January 2021

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Deficiency of alpha-dystroglycan in muscle-eye-brain disease

7 January 2021

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Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

7 January 2021

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Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle

7 January 2021

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Expression of recombinant rabbit UDP-GlcNAc: alpha 3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I catalytic domain in Sf9 insect cells

7 January 2021

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Carbohydrate-deficient glycoprotein syndrome type II. An autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive acidified-serum lysis test (HEMPAS)

7 January 2021

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Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis

7 January 2021

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Mice with a homozygous deletion of the Mgat2 gene encoding UDP-N-acetylglucosamine:alpha-6-D-mannoside beta1,2-N-acetylglucosaminyltransferase II: a model for congenital disorder of glycosylation type IIa

7 January 2021

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Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

7 January 2021

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Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy

7 January 2021

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An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

7 January 2021

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Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD).

7 January 2021

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Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

7 January 2021

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Merosin/laminin-2 and muscular dystrophy

7 January 2021

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7 January 2021

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Diagnostic criteria for Walker-Warburg syndrome

7 January 2021

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Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.

7 January 2021

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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

7 January 2021

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Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy

7 January 2021

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Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33

7 January 2021

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The fukutin protein family--predicted enzymes modifying cell-surface molecules

7 January 2021

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Structure/function studies of glycosyltransferases

7 January 2021

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The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I

7 January 2021

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Ophthalmological findings in a new syndrome with muscle, eye and brain involvement

7 January 2021

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0009-9120(03)00036-5

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10 February 2018

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10 February 2018