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Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1

  • Published:2015-11 Issue:11 Volume:25 Page:898-903
  • ISSN:0960-8966
  • Container-title:Neuromuscular Disorders
  • language:en
  • Short-container-title:Neuromuscular Disorders

Author:

Tasca Giorgio,D'Amico Adele,Monforte Mauro,Nadaj-Pakleza Aleksandra,Vialle Marc,Fattori Fabiana,Vissing John,Ricci Enzo,Bertini Enrico

Funder

Ministry of Health, Italy, Ricerca Corrente and Ricerca Finalizzata

Fondazione Telethon

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference22 articles.

1. The origin of tubular aggregates in human myopathies;Chevessier;J Pathol,2005

2. Tubular aggregates in skeletal muscle: just a special type of protein aggregates?;Schiaffino;Neuromuscul Disord,2012

3. Morphological spectrum and clinical features of myopathies with tubular aggregates;Funk;Histol Histopathol,2013

4. Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates;Belaya;Am J Hum Genet,2012

5. Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy;Bohm;Am J Hum Genet,2013

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