(Q57390205)

9

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author name string

D. Fischer

1

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M. C. Walter

2

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K. Kesper

3

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J. A. Petersen

4

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S. Aurino

5

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C. Kubisch

7

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T. Meindl

8

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K. Wilhelm

10

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H. Urbach

11

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R. Schröder

Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.

12

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publication date

23 February 2005

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published in

Journal of Neurology

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volume

252

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issue

5

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page(s)

538-547

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cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0684-4

Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0684-4

A short protocol for muscle MRI in children with muscular dystrophies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0684-4

The phenotype of limb-girdle muscular dystrophy type 2I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0684-4

Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients

1 reference

12 December 2020

Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype

1 reference

12 December 2020

Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)

1 reference

12 December 2020

1 reference

12 December 2020

On symptomatic heterozygous alpha-sarcoglycan gene mutation carriers

1 reference

12 December 2020

Phenotypic spectrum associated with mutations in the fukutin-related protein gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Consequences of a novel caveolin-3 mutation in a large German family

1 reference

12 December 2020

Magnetic resonance imaging of primary skeletal muscle diseases: patterns of distribution and severity of involvement

1 reference

12 December 2020

Duchenne muscular dystrophy: MR grading system with functional correlation

1 reference

12 December 2020

FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients

1 reference

12 December 2020

Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations.

1 reference

12 December 2020

Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features

1 reference

12 December 2020

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

1 reference

12 December 2020

Variable reduction of caveolin-3 in patients with LGMD2B/MM.

1 reference

12 December 2020

Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).

1 reference

12 December 2020

The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach

1 reference

12 December 2020

Correlative MR imaging and 31P-MR spectroscopy study in sarcoglycan deficient limb girdle muscular dystrophy

1 reference

12 December 2020