Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1. (Q36621095)

15 August 2017

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1. (English)

1 reference

tubular aggregate myopathy

15 August 2017

1 reference

Mauro Monforte

3

0 references

Fabiana Fattori

Fabiana Fattori

6

0 references

Giorgio Tasca

Giorgio Tasca

1

0 references

Enzo Ricci

Enzo Ricci

8

0 references

Adele D'Amico

Adele D'Amico

2

0 references

Enrico Bertini

Enrico Bertini

9

0 references

John Vissing

7

John Vissing

1 reference

15 August 2017

Aleksandra Nadaj-Pakleza

4

1 reference

PMC publication ID

4768080

15 August 2017

Marc Vialle

5

1 reference

15 August 2017

17 July 2015

1 reference

15 August 2017

Neuromuscular Disorders

1 reference

15 August 2017

25

1 reference

15 August 2017

11

1 reference

15 August 2017

898-903

1 reference

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4768080

Upper girdle imaging in facioscapulohumeral muscular dystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4768080

Muscle MR imaging in tubular aggregate myopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4768080

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4768080

Morphological spectrum and clinical features of myopathies with tubular aggregates

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4768080

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4768080

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4768080

Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4768080

Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4768080

Muscle MRI in female carriers of dystrophinopathy.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4768080

Muscle imaging findings in GNE myopathy.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4768080

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4768080

The origin of tubular aggregates in human myopathies

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4768080

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4768080

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4768080

Tubular aggregates in skeletal muscle: Just a special type of protein aggregates?

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4768080

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4768080

Muscle phosphoglycerate mutase deficiency with tubular aggregates: effect of dantrolene

4 December 2018

1 reference

12 December 2020

Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations

1 reference

12 December 2020

Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations

1 reference

12 December 2020

Whole body muscle MRI protocol: Pattern recognition in early onset NM disorders

1 reference

12 December 2020

10.1016/J.NMD.2015.07.008

Identifiers

DOI

1 reference

15 August 2017

1 reference

PMC publication ID

4768080

15 August 2017

PubMed publication ID

26255678

1 reference

PMC publication ID

4768080