Research map: The Diagnostic Journey from Rhabdomyolysis to Myopathy with Tubular Aggregates: A Family-Based Case Report and Review of the Literature

Back to the article

Papers in this map

  1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology · Sue M. Richards · 2015 · 33500 citations · Cited by this paper
  2. Mind the Gap: Exploring Parental Intentions, Actual Engagement, and Associated Outcomes in Tailored Digital Parent Training · 2026 · Related
  3. Diseases caused by mutations in ORAI1 and STIM1 · Rodrigo S. Lacruz · 2015 · 462 citations · Cited by this paper
  4. The Impact of Smartphone Use on Brain Function in Adolescence: A Scoping Review · 2026 · Related
  5. ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia · Christie‐Ann McCarl · 2009 · 324 citations · Cited by this paper
  6. Fractional Exhaled Nitric Oxide in Children with Non-Cystic Fibrosis Bronchiectasis: Associations with Etiology, Lung Function, and CT Extent · 2026 · Related
  7. Acute Pediatric Rhabdomyolysis: Causes and Rates of Renal Failure · Rebekah Mannix · 2006 · 217 citations · Cited by this paper
  8. Interventions Aiming to Improve Breastfeeding Duration Among Primiparous Women: A Scoping Review · 2026 · Related
  9. STIM1L is a new actin-binding splice variant involved in fast repetitive Ca2+ release · Basile Darbellay · 2011 · 186 citations · Cited by this paper
  10. Utilizing Machine Learning for Diagnostic Assistance of Pediatric Sepsis and Septic Shock in Resource-Limited Settings · 2026 · Related
  11. Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels · Yukari Endo · 2014 · 175 citations · Cited by this paper
  12. Basal Ganglia Ischemic Stroke as Sentinel Sign for Pediatric Tuberculous Meningitis in an Immunocompetent Child: A Case Report · 2026 · Related
  13. Rhabdomyolysis: a genetic perspective · R. Scalco · 2015 · 155 citations · Cited by this paper
  14. Integration of Polymyxin-B Hemoadsorption Device into a CRRT Circuit for Endotoxic Septic Shock in a Child: A Case Report · 2026 · Related
  15. ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy · Johann Böhm · 2017 · 107 citations · Cited by this paper
  16. Effects of White Noise on Academic Skills in Children with ADHD and Specific Learning Disorders: New Perspectives for Personalised Rehabilitation and Educational Intervention · 2026 · Related
  17. ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency · Jayson Lian · 2017 · 96 citations · Cited by this paper
  18. Admission Criteria to Paediatric Intensive Care for Oncology Haematology Patients: Updates and Evidence-Based Clinical Recommendations · 2026 · Related
  19. A novel gain‐of‐function mutation in ORAI1 causes late‐onset tubular aggregate myopathy and congenital miosis · Matteo Garibaldi · 2016 · 69 citations · Cited by this paper
  20. Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation · Gilles Morin · 2019 · 62 citations · Cited by this paper
  21. ORAI1 channel gating and selectivity is differentially altered by natural mutations in the first or third transmembrane domain · Monica Bulla · 2018 · 45 citations · Cited by this paper
  22. Dominantly inherited myopathy with novel tubular aggregates containing 1–21 tubulofilamentous structures · Harald D. Müller · 2001 · 43 citations · Cited by this paper
  23. Muscle biopsy practices in the evaluation of neuromuscular disease: A systematic literature review · Laura Ross · 2023 · 23 citations · Cited by this paper
  24. Familial myopathy with tubular aggregates associated with abnormal pupils · Nortina Shahrizaila · 2004 · 21 citations · Cited by this paper
  25. Tubular aggregate myopathy: A rare form of myopathy · Deepali Jain · 2008 · 14 citations · Cited by this paper
  26. Chronic inhibition of the mitochondrial ATP synthase in skeletal muscle triggers sarcoplasmic reticulum distress and tubular aggregates · Cristina Sánchez‐González · 2022 · 10 citations · Cited by this paper
  27. ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome · Roberto Silva‐Rojas · 2024 · 8 citations · Cited by this paper
  28. Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy · Dipti Baskar · 2024 · 3 citations · Cited by this paper
  29. The spectrum of neuromuscular diseases with tubular aggregates · Hebatallah Reda Rashed · 2025 · 3 citations · Cited by this paper
  30. Tubular Aggregate Myopathies: Genetic Heterogeneity and Diverse Clinical Features Converging on Calcium Dysregulation · Matteo Serano · 2026 · 2 citations · Cited by this paper

Source: OpenAlex (CC0)