… ; Drs Chiarini Testa and Bignamini coordinated and supervised data collection and reviewed
and revised the manuscript; Dr Ravà carried out the initial statistical analysis; Ms Mastella …

Background X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting
from pathogenic variants in the MTM1 gene. Affected male subjects typically present with …

Background Children with chronic respiratory failure and/or sleep disordered breathing due
to a broad range of diseases may require long-term ventilation to be managed at home. …

Chiarini Testa MB, Pavone M, Bertini E, Petrone A, Pagani M, Cutrera R: Sleep-disordered
breathing in spinal muscular atrophy types 1 and 2. Am J Phys Med Rehabil 2005; 84: 666–…

Introduction and Objectives Patients with neuromuscular disease (NMD) are often exposed
to ionizing radiations which could be reduced if a noninvasive and reliable diagnostic …

Objective Few reports on sleep patterns of patients with spinal muscular atrophy type 1 (SMA1)
have been published and none on sleep microstructure. The aim of this study was to …

Background: Congenital central hypoventilation syndrome (CCHS) is a rare disorder whose
clinical phenotype is closely related to genotype. Methods: A retrospective analysis has …

Background Long-term mechanical ventilation (LTV) with non-invasive ventilation (NIV)
prolongs survival in patients with Neuromuscular Diseases (NMDs). Transition from paediatric to …

Objective There have been few published reports on the sleep patterns of patients with spinal
muscular atrophy (SMA) type 2, and none on sleep microstructure. The aim of this study …

Amish Nemaline Myopathy is a severe form of nemaline myopathy associated to mutation in
TNNT1 gene, firstly reported among the Old Order Amish. Here we report two Italian siblings …