A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder—Case Report

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