(Q43482728)

23 November 2017

title

Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations (English)

1 reference

limb-girdle muscular dystrophy

23 November 2017

main subject

1 reference

14

1 reference

23 November 2017

Luca Bello

7

0 references

Maria Giovanna Marrosu

object named as

Maria Giovanna Marrosu

12

0 references

author name string

Bruno F Gavassini

1

1 reference

23 November 2017

Nicola Carboni

2

1 reference

23 November 2017

Jørgen E Nielsen

3

1 reference

23 November 2017

Else R Danielsen

4

1 reference

23 November 2017

Carsten Thomsen

5

1 reference

23 November 2017

Kirsten Svenstrup

6

1 reference

23 November 2017

Maria Antonietta Maioli

8

1 reference

23 November 2017

Giovanni Marrosu

9

1 reference

23 November 2017

Anna Filomena Ticca

10

1 reference

23 November 2017

Marco Mura

11

1 reference

23 November 2017

Gianni Soraru

13

1 reference

23 November 2017

John Vissing

15

1 reference

23 November 2017

Elena Pegoraro

16

1 reference

23 November 2017

language of work or name

1 reference

26 September 2011

1 reference

23 November 2017

1 reference

23 November 2017

volume

44

1 reference

23 November 2017

issue

5

1 reference

23 November 2017

page(s)

703-709

1 reference

Bridging structure with function: structural, regulatory, and developmental role of laminins

23 November 2017

cites work

1 reference

Integrins (alpha7beta1) in muscle function and survival. Disrupted expression in merosin-deficient congenital muscular dystrophy

21 January 2018

1 reference

Role of laminin terminal globular domains in basement membrane assembly

21 January 2018

1 reference

Laminin forms an independent network in basement membranes

21 January 2018

1 reference

The congenital muscular dystrophies in 2004: a century of exciting progress

21 January 2018

1 reference

Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy

21 January 2018

1 reference

Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency.

21 January 2018

1 reference

Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophy.

21 January 2018

1 reference

Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping

21 January 2018

1 reference

Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency.

21 January 2018

1 reference

Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy.

21 January 2018

1 reference

Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.

21 January 2018

1 reference

A new leukoencephalopathy with vanishing white matter.

21 January 2018

1 reference

Muscular dystrophies due to glycosylation defects

21 January 2018

1 reference

Quantitative proton MRS of cerebral metabolites in laminin alpha2 chain deficiency.

21 January 2018

1 reference

Presence of Laminin 5 Chain and Lack of Laminin 1 Chain during Human Muscle Development and in Muscular Dystrophies

21 January 2018

1 reference

Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain.

21 January 2018

1 reference

Limb–girdle muscular dystrophies

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/MUS.22132

1 reference

23 November 2017

1 reference