A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan (Q41921630)

14 October 2017

title

A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan (English)

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14 October 2017

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Sue Brown

8

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Francesco Muntoni

15

object named as

Francesco Muntoni

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14 October 2017

16

Haluk Topaloglu

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14 October 2017

Pervin Dinçer

1

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14 October 2017

Burcu Balci

2

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14 October 2017

Yeliz Yuva

3

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14 October 2017

Beril Talim

4

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14 October 2017

Martin Brockington

5

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14 October 2017

Deniz Dinçel

6

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14 October 2017

Silvia Torelli

7

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14 October 2017

Gülsev Kale

9

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14 October 2017

Göknur Haliloglu

10

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14 October 2017

Filiz Ozbas Gerçeker

11

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14 October 2017

Rengül Cetin Atalay

12

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14 October 2017

Cengiz Yakicier

13

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14 October 2017

Cheryl Longman

14

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14 October 2017

publication date

1 December 2003

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14 October 2017

published in

Neuromuscular Disorders

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14 October 2017

volume

13

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14 October 2017

issue

10

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14 October 2017

page(s)

771-778

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On the classification, natural history and treatment of the myopathies

14 October 2017

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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

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Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

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Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

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Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

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Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

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Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene

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Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

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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

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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

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

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Alternative splicing of agrin alters its binding to heparin, dystroglycan, and the putative agrin receptor

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7 January 2021

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

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The relationship between perlecan and dystroglycan and its implication in the formation of the neuromuscular junction.

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7 January 2021

The small leucine-rich repeat proteoglycan biglycan binds to alpha-dystroglycan and is upregulated in dystrophic muscle

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7 January 2021

Biosynthesis of dystroglycan: processing of a precursor propeptide

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7 January 2021

Muscular dystrophy associated with ?-dystroglycan deficiency

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7 January 2021

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

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

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

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Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping

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7 January 2021

Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy

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7 January 2021

Identification of a New Locus for a Peculiar Form of Congenital Muscular Dystrophy with Early Rigidity of the Spine, on Chromosome 1p35-36

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7 January 2021

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7 January 2021

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

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Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

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7 January 2021

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7 January 2021

Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy

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7 January 2021

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7 January 2021

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7 January 2021

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Identifiers

DOI

1 reference

14 October 2017

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