A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder—Case Report
出版年份 2023 全文链接
标题
A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder—Case Report
作者
关键词
-
出版物
Journal of Personalized Medicine
Volume 13, Issue 11, Pages 1577
出版商
MDPI AG
发表日期
2023-11-05
DOI
10.3390/jpm13111577
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Collagen VI in the Musculoskeletal System
- (2023) Alberto Di Martino et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- New Clinical and Immunofluorescence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients
- (2023) Luciano Merlini et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing
- (2022) Gemma Marinella et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Obstructing Sleep Apnea in Children with Genetic Disorders—A Special Need for Early Multidisciplinary Diagnosis and Treatment
- (2021) Mihaela Oros et al. Journal of Clinical Medicine
- Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies
- (2021) Rocío N. Villar-Quiles et al. Journal of Neuromuscular Diseases
- ERS/ATS technical standard on interpretive strategies for routine lung function tests
- (2021) Sanja Stanojevic et al. EUROPEAN RESPIRATORY JOURNAL
- ERS Statement on pediatric long term noninvasive respiratory support
- (2021) Brigitte Fauroux et al. EUROPEAN RESPIRATORY JOURNAL
- Respiratory Muscle Function Tests and Diaphragm Ultrasound Predict Nocturnal Hypoventilation in Slowly Progressive Myopathies
- (2021) Jens Spiesshoefer et al. Frontiers in Neurology
- Responsiveness and Minimal Clinically Important Difference of the Motor Function Measure in Collagen VI-Related Dystrophies and Laminin Alpha2-Related Muscular Dystrophy
- (2020) Laure Le Goff et al. ARCHIVES OF PHYSICAL MEDICINE AND REHABILITATION
- Does Scoliosis Affect the Sleep Breathing?
- (2018) Xingye Li et al. World Neurosurgery
- Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea
- (2017) Jung Hwan Lee et al. Journal of Clinical Neurology
- Early Onset of Sleep-Disordered Breathing in Two Children With SEPN1-Related Myopathies
- (2017) Mathilde Viprey et al. Journal of Clinical Sleep Medicine
- Long-term non-invasive ventilation in children
- (2016) Alessandro Amaddeo et al. Lancet Respiratory Medicine
- Sleep-disordered Breathing in Neuromuscular Disease
- (2015) Loutfi S. Aboussouan AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
- Obstructive sleep disordered breathing in 2- to 18-year-old children: diagnosis and management
- (2015) Athanasios G. Kaditis et al. EUROPEAN RESPIRATORY JOURNAL
- Natural history of pulmonary function in collagen VI-related myopathies
- (2013) A. Reghan Foley et al. BRAIN
- Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy
- (2013) T. Yonekawa et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Consensus Statement on Standard of Care for Congenital Muscular Dystrophies
- (2010) Ching H. Wang et al. JOURNAL OF CHILD NEUROLOGY
- Autophagy is defective in collagen VI muscular dystrophies and its reactivation rescues myofiber degeneration
- (2010) Paolo Grumati et al. NATURE MEDICINE
- Sleep-disordered breathing in children with thoracic insufficiency syndrome
- (2010) Amanda Striegl et al. PEDIATRIC PULMONOLOGY
- Ullrich congenital muscular dystrophy: Report of nine cases from India
- (2009) A Nalini et al. NEUROLOGY INDIA
- Therapy of collagen VI-related myopathies (Bethlem and Ullrich)
- (2008) Luciano Merlini et al. Neurotherapeutics
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search