Sleep in pediatric neuromuscular disorders.

[1]  M. ElMallah,et al.  ATS Core Curriculum 2022. Pediatric Pulmonary Medicine: Updates in pediatric neuromuscular disease , 2023, Pediatric pulmonology.

[2]  B. Chung,et al.  Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study , 2023, Neuromuscular Disorders.

[3]  Cheminelle Marie,et al.  Respiratory function and sleep in children with myotonic dystrophy type 1 , 2023, Neuromuscular Disorders.

[4]  D. Hamroun,et al.  The 2023 version of the gene table of neuromuscular disorders (nuclear genome) , 2022, Neuromuscular Disorders.

[5]  J. Lammers,et al.  Polysomnography findings in children with spinal muscular atrophy after onasemnogene-abeparvovec. , 2022, Sleep medicine.

[6]  G. Comi,et al.  Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial , 2022, The Lancet Neurology.

[7]  T. Mozaffar,et al.  Pompe Disease: a Clinical, Diagnostic, and Therapeutic Overview , 2022, Current Treatment Options in Neurology.

[8]  C. Kanaka-Gantenbein,et al.  Changes in Ventilatory Support Requirements of Spinal Muscular Atrophy (SMA) Patients Post Gene-Based Therapies , 2022, Children.

[9]  H. Lochmüller,et al.  Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy. , 2022, Brain : a journal of neurology.

[10]  C. Gerrits,et al.  Delays in pulmonary decline in eteplirsen‐treated patients with Duchenne muscular dystrophy , 2022, Muscle & nerve.

[11]  Zhaoxia Wang,et al.  Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients , 2022, Frontiers in Genetics.

[12]  M. Farrar,et al.  Daytime predictors of nocturnal hypercapnic hypoventilation in children with neuromuscular disorders , 2022, Pediatric pulmonology.

[13]  S. Jablonka,et al.  Therapy development for spinal muscular atrophy: perspectives for muscular dystrophies and neurodegenerative disorders , 2022, Neurological Research and Practice.

[14]  F. Muntoni,et al.  Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients , 2021, Journal of comparative effectiveness research.

[15]  J. Dowling,et al.  X-linked myotubular myopathy , 2021, Neuromuscular Disorders.

[16]  B. Byrne,et al.  A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment , 2021, Journal of neuromuscular diseases.

[17]  B. Kamath,et al.  Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report , 2021, Journal of neuromuscular diseases.

[18]  P. Fontoura,et al.  Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls. , 2021, The New England journal of medicine.

[19]  B. Vandermeer,et al.  Outcomes of Long-term Non-invasive Ventilation Use in Children with Neuromuscular Disease: Systematic Review and Meta-analysis. , 2021, Annals of the American Thoracic Society.

[20]  M. Shirley Casimersen: First Approval , 2021, Drugs.

[21]  R. Finkel,et al.  Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial , 2021, The Lancet Neurology.

[22]  M. Talukder,et al.  In silico analysis of selenoprotein N (Gallus gallus): absence of EF-hand motif and the role of CUGS-helix domain in antioxidant protection. , 2021, Metallomics : integrated biometal science.

[23]  E. Mercuri,et al.  Duchenne muscular dystrophy , 2021, Nature Reviews Disease Primers.

[24]  Ching H. Wang,et al.  A Cross-Sectional Study of Nemaline Myopathy , 2021, Neurology.

[25]  M. Main,et al.  Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials , 2020, Annals of clinical and translational neurology.

[26]  M. Main,et al.  LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort , 2020, Annals of clinical and translational neurology.

[27]  S. Colombo,et al.  Selenoprotein N is an endoplasmic reticulum calcium sensor that links luminal calcium levels to a redox activity , 2020, Proceedings of the National Academy of Sciences.

[28]  F. Muntoni,et al.  LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness , 2020, Frontiers in Molecular Neuroscience.

[29]  J. Pascoe,et al.  Sleep disordered breathing: Assessment and therapy in the age of emerging neuromuscular therapies , 2020, Pediatric pulmonology.

[30]  E. Hoffman,et al.  Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping , 2020, JAMA neurology.

[31]  Young-A. Heo Golodirsen: First Approval , 2020, Drugs.

[32]  E. Mercuri,et al.  Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study , 2020, Journal of comparative effectiveness research.

[33]  P. Sly,et al.  Polysomnography findings in pediatric spinal muscular atrophy types 1-3. , 2019, Sleep medicine.

[34]  Eugenio Mercuri,et al.  Muscular dystrophies , 2019, The Lancet.

[35]  M. Main,et al.  Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies. , 2019, Neurology.

[36]  R. Finkel,et al.  Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study , 2019, Neuromuscular Disorders.

[37]  C. Wallgren‐Pettersson,et al.  Nemaline myopathies: a current view , 2019, Journal of Muscle Research and Cell Motility.

[38]  H. Sawnani Sleep disordered breathing in Duchenne muscular dystrophy. , 2019, Paediatric respiratory reviews.

[39]  L. Servais,et al.  X-linked myotubular myopathy , 2019, Neurology.

[40]  P. Shieh Emerging Strategies in the Treatment of Duchenne Muscular Dystrophy , 2018, Neurotherapeutics.

[41]  M. Farrar,et al.  Myotonic dystrophy type 1: clinical manifestations in children and adolescents , 2018, Archives of Disease in Childhood.

[42]  B. Schoser,et al.  Core Clinical Phenotypes in Myotonic Dystrophies , 2018, Front. Neurol..

[43]  Carla M Bann,et al.  Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management , 2018, The Lancet Neurology.

[44]  L. Servais,et al.  Hearing impairment in patients with myotonic dystrophy type 2 , 2018, Neurology.

[45]  B. Byrne,et al.  A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study , 2017, Muscle & nerve.

[46]  C. Bruno,et al.  Detection of early nocturnal hypoventilation in neuromuscular disorders , 2017, The Journal of international medical research.

[47]  M. Rüegg,et al.  Laminin-deficient muscular dystrophy: Molecular pathogenesis and structural repair strategies. , 2017, Matrix biology : journal of the International Society for Matrix Biology.

[48]  R. Finkel,et al.  Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics , 2017, Neuromuscular Disorders.

[49]  R. J. Ramamurthi,et al.  Nusinersen versus Sham Control in Infantile‐Onset Spinal Muscular Atrophy , 2017, The New England journal of medicine.

[50]  Brian K. Kaspar,et al.  Single‐Dose Gene‐Replacement Therapy for Spinal Muscular Atrophy , 2017, The New England journal of medicine.

[51]  S. Caggiano,et al.  Sleep in infants with congenital myasthenic syndromes. , 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[52]  W. Kress,et al.  Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2 , 2017, Journal of Neurology.

[53]  J. Dowling,et al.  A natural history study of X-linked myotubular myopathy , 2017, Neurology.

[54]  P. Sabouraud,et al.  Early Onset of Sleep-Disordered Breathing in Two Children With SEPN1-Related Myopathies. , 2017, Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine.

[55]  M. ElMallah,et al.  Pediatric Obstructive Sleep Apnea in High-Risk Populations: Clinical Implications. , 2017, Pediatric annals.

[56]  B. Estournet,et al.  Diaphragmatic dysfunction in SEPN1-related myopathy , 2017, Neuromuscular Disorders.

[57]  J. Kleijnen,et al.  The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review , 2017, Orphanet Journal of Rare Diseases.

[58]  M. Farrar,et al.  Quality of life and excessive daytime sleepiness in children and adolescents with myotonic dystrophy type 1. , 2017, Sleep medicine.

[59]  R. Szczesniak,et al.  Comparison of sitting and supine forced vital capacity in collagen VI‐related dystrophy and laminin α2‐related dystrophy , 2017, Pediatric pulmonology.

[60]  R. Finkel,et al.  Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study , 2016, The Lancet.

[61]  R. Hoque Sleep-Disordered Breathing in Duchenne Muscular Dystrophy: An Assessment of the Literature. , 2016, Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine.

[62]  O. Bruni,et al.  Sleep architecture in children with spinal muscular atrophy type 2. , 2016, Sleep medicine.

[63]  M. Farrar,et al.  Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions. , 2015, World journal of clinical pediatrics.

[64]  N. Pride,et al.  Pulmonary mechanics in patients with respiratory muscle weakness. , 2015, The American review of respiratory disease.

[65]  L. Aboussouan Sleep-disordered Breathing in Neuromuscular Disease. , 2015, American journal of respiratory and critical care medicine.

[66]  R. Kravitz,et al.  Longitudinal polysomnographic findings in infantile Pompe disease , 2015, American journal of medical genetics. Part A.

[67]  S. Sine,et al.  Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment , 2015, The Lancet Neurology.

[68]  R. Szczesniak,et al.  Sleep disordered breathing in young boys with Duchenne muscular dystrophy. , 2015, The Journal of pediatrics.

[69]  R. Koul,et al.  Rigid Spinal Muscular Dystrophy and Rigid Spine Syndrome , 2014, Journal of child neurology.

[70]  M. Hanna,et al.  Mutations in SCN4A: A Rare but Treatable Cause of Recurrent Life-Threatening Laryngospasm , 2014, Pediatrics.

[71]  S. Gabriel,et al.  Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. , 2014, The Journal of clinical investigation.

[72]  N. Raben,et al.  Pompe disease: from pathophysiology to therapy and back again , 2014, Front. Aging Neurosci..

[73]  E. Bertini,et al.  Natural history of pulmonary function in collagen VI-related myopathies. , 2013, Brain : a journal of neurology.

[74]  Sujay M Kansagra,et al.  Polysomnographic findings in infantile Pompe disease , 2013, American journal of medical genetics. Part A.

[75]  J. Mendell,et al.  Eteplirsen for the treatment of Duchenne muscular dystrophy , 2013, Annals of neurology.

[76]  E. Bertini,et al.  Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. , 2013, American journal of human genetics.

[77]  Jay J. Han,et al.  The cooperative international neuromuscular research group Duchenne natural history study: Glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measur , 2013, Muscle & nerve.

[78]  S. Peltz,et al.  Ataluren as an agent for therapeutic nonsense suppression. , 2013, Annual review of medicine.

[79]  H. Lochmüller,et al.  Congenital myasthenic syndromes: Achievements and limitations of phenotype‐guided gene‐after‐gene sequencing in diagnostic practice: A study of 680 patients , 2012, Human mutation.

[80]  C. Phornphutkul,et al.  The emerging phenotype of long-term survivors with infantile Pompe disease , 2012, Genetics in Medicine.

[81]  Cindy Hamil,et al.  Evidence‐based path to newborn screening for duchenne muscular dystrophy , 2012, Annals of neurology.

[82]  Aung Ko Win,et al.  Increased cancer risks in myotonic dystrophy. , 2012, Mayo Clinic proceedings.

[83]  H. Kautiainen,et al.  Pain in patients with myotonic dystrophy type 2: A postal survey in finland , 2012, Muscle & nerve.

[84]  M. Greene,et al.  Cancer risk among patients with myotonic muscular dystrophy. , 2011, JAMA.

[85]  C. Angelini,et al.  Clinical and molecular characterization of limb‐girdle muscular dystrophy due to LAMA2 mutations , 2011, Muscle & nerve.

[86]  C. Bönnemann The collagen VI-related myopathies: muscle meets its matrix , 2011, Nature Reviews Neurology.

[87]  M. Main,et al.  SEPN1-related myopathies , 2011, Neurology.

[88]  Sabin R. Bista,et al.  Practice parameters for the respiratory indications for polysomnography in children. , 2011, Sleep.

[89]  N. Bresolin,et al.  New molecular findings in congenital myopathies due to selenoprotein N gene mutations , 2011, Journal of the Neurological Sciences.

[90]  J. Rowley,et al.  Best clinical practices for the sleep center adjustment of noninvasive positive pressure ventilation (NPPV) in stable chronic alveolar hypoventilation syndromes. , 2010, Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine.

[91]  M. Tulinius,et al.  Visual function in congenital and childhood myotonic dystrophy type 1. , 2010, Ophthalmology.

[92]  K. Bushby,et al.  Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations , 2010, Neuromuscular Disorders.

[93]  R. Arens,et al.  Sleep, sleep disordered breathing, and nocturnal hypoventilation in children with neuromuscular diseases. , 2010, Paediatric respiratory reviews.

[94]  L. Kunkel,et al.  Congenital myasthenic syndrome with episodic apnea. , 2009, Pediatric neurology.

[95]  H. Panitch The Pathophysiology of Respiratory Impairment in Pediatric Neuromuscular Diseases , 2009, Pediatrics.

[96]  S. Katz Assessment of Sleep-Disordered Breathing in Pediatric Neuromuscular Diseases , 2009, Pediatrics.

[97]  M. Resende,et al.  Sleep and neuromuscular disorders in children. , 2009, Sleep medicine reviews.

[98]  F. Lofaso,et al.  Pompe disease: a neuromuscular disease with respiratory muscle involvement. , 2009, Respiratory medicine.

[99]  A. Clément,et al.  Carbon dioxide monitoring during long-term noninvasive respiratory support in children , 2009, Intensive Care Medicine.

[100]  C. Bönnemann,et al.  The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. , 2008, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[101]  Wiley Interscience,et al.  Non‐invasive ventilation reduces respiratory tract infections in children with neuromuscular disorders , 2008, Pediatric pulmonology.

[102]  P. Yurchenco,et al.  Role of Laminin Terminal Globular Domains in Basement Membrane Assembly* , 2007, Journal of Biological Chemistry.

[103]  D. Zurakowski,et al.  Posterior Spinal Fusion for Scoliosis in Duchenne Muscular Dystrophy Diminishes the Rate of Respiratory Decline , 2007, Spine.

[104]  B. Eymard,et al.  Sleep disorders in childhood-onset myotonic dystrophy type 1 , 2006, Neuromuscular Disorders.

[105]  M. Toussaint,et al.  Diurnal ventilation via mouthpiece: survival in end-stage Duchenne patients , 2006, European Respiratory Journal.

[106]  G. van Ommen,et al.  Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading‐frame rule , 2006, Muscle & nerve.

[107]  M. Bellini,et al.  Gastrointestinal manifestations in myotonic muscular dystrophy. , 2006, World journal of gastroenterology.

[108]  K. Bushby,et al.  Collagen VI related muscle disorders , 2005, Journal of Medical Genetics.

[109]  C. Dakin,et al.  Sleep‐related breathing disorder in Duchenne muscular dystrophy: Disease spectrum in the paediatric population , 2005, Journal of paediatrics and child health.

[110]  T. Voit,et al.  Sleep disordered breathing in spinal muscular atrophy , 2004, Neuromuscular Disorders.

[111]  A. Simonds,et al.  117th ENMC Workshop: Ventilatory Support in Congenital Neuromuscular Disorders — Congenital Myopathies, Congenital Muscular Dystrophies, Congenital Myotonic Dystrophy and SMA (II) 4–6 April 2003, Naarden, The Netherlands , 2004, Neuromuscular Disorders.

[112]  H. Selvadurai,et al.  Outcome of non-invasive positive pressure ventilation in paediatric neuromuscular disease , 2004, Archives of Disease in Childhood.

[113]  J. Bach,et al.  Prevention of pectus excavatum for children with spinal muscular atrophy type 1. , 2003, American journal of physical medicine & rehabilitation.

[114]  G. Beilman,et al.  Myotonic dystrophy type 2 , 2003, Neurology.

[115]  T. Voit,et al.  Daytime predictors of sleep disordered breathing in children and adolescents with neuromuscular disorders , 2003, Neuromuscular Disorders.

[116]  T. Voit,et al.  Patterns and predictors of sleep disordered breathing in primary myopathies , 2002, Thorax.

[117]  A. Engel,et al.  Congenital myasthenic syndrome associated with episodic apnea and sudden infant death , 2002, Neuromuscular Disorders.

[118]  S. Bourke,et al.  Sleep and breathing in neuromuscular disease , 2002, European Respiratory Journal.

[119]  Soma Das,et al.  Characterization of mutations in fifty North American patients with X‐linked myotubular myopathy , 2002, Human mutation.

[120]  A. Beggs,et al.  Nemaline myopathy: A clinical study of 143 cases , 2001, Annals of neurology.

[121]  S. Naylor,et al.  Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9 , 2001, Science.

[122]  P. Calverley,et al.  Nocturnal oxygenation and prognosis in Duchenne muscular dystrophy. , 1999, American journal of respiratory and critical care medicine.

[123]  J. McPherson,et al.  A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. , 1999, Human molecular genetics.

[124]  C. Lorson,et al.  A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[125]  R. Glanville,et al.  Type VI Collagen Anchors Endothelial Basement Membranes by Interacting with Type IV Collagen* , 1997, The Journal of Biological Chemistry.

[126]  K. Tryggvason,et al.  Structure of the Human Laminin α2-Chain Gene (LAMA2), Which Is Affected in Congenital Muscular Dystrophy* , 1996, The Journal of Biological Chemistry.

[127]  E. Engvall,et al.  Merosin and laminin in myogenesis; specific requirement for merosin in myotube stability and survival , 1996, The Journal of cell biology.

[128]  M. Strong,et al.  Sleep-disordered breathing in amyotrophic lateral sclerosis. , 1996, Chest.

[129]  S. Klauck,et al.  A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast , 1996, Nature Genetics.

[130]  W. Kuo,et al.  Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization , 1996, Human Genetics.

[131]  J. Weissenbach,et al.  Mutations in the laminin α2–chain gene (LAMA2) cause merosin–deficient congenital muscular dystrophy , 1995, Nature Genetics.

[132]  V. Dubowitz Chaos in the classification of SMA: A possible resolution , 1995, Neuromuscular Disorders.

[133]  J. Weissenbach,et al.  Identification and characterization of a spinal muscular atrophy-determining gene , 1995, Cell.

[134]  A. Agustí,et al.  Sleep-related respiratory disturbances in patients with Duchenne muscular dystrophy. , 1994, The European respiratory journal.

[135]  H. Brunner,et al.  Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM). , 1993, American journal of human genetics.

[136]  David E. Housman,et al.  Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member , 1992, Cell.

[137]  V. Dubowitz Chaos in classification of the spinal muscular atrophies of childhood , 1991, Neuromuscular Disorders.

[138]  F. Martiniuk,et al.  Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences. , 1990, DNA and cell biology.

[139]  L. Hoefsloot,et al.  Primary structure and processing of lysosomal alpha‐glucosidase; homology with the intestinal sucrase‐isomaltase complex. , 1988, The EMBO journal.

[140]  Eric P. Hoffman,et al.  Dystrophin: The protein product of the duchenne muscular dystrophy locus , 1987, Cell.

[141]  V. Dubowitz,et al.  Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children. , 1985, Brain : a journal of neurology.

[142]  J. Pearn CLASSIFICATION OF SPINAL MUSCULAR ATROPHIES , 1980, The Lancet.

[143]  J. Dowling,et al.  The genetics of congenital myopathies. , 2018, Handbook of clinical neurology.

[144]  O. Mayer Scoliosis and the impact in neuromuscular disease. , 2015, Paediatric respiratory reviews.

[145]  A. Nucci,et al.  Recurrent apparent life-threatening event as the first manifestation of congenital myasthenia. , 2013, Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo.

[146]  A. Chiodo,et al.  Home-based overnight transcutaneous capnography/pulse oximetry for diagnosing nocturnal hypoventilation associated with neuromuscular disorders. , 2013, Archives of physical medicine and rehabilitation.

[147]  C. Wallgren‐Pettersson,et al.  Orphanet Journal of Rare Diseases BioMed Central Review , 2008 .

[148]  D. Annane,et al.  Supine fall in lung volumes in the assessment of diaphragmatic weakness in neuromuscular disorders. , 2001, Archives of physical medicine and rehabilitation.

[149]  D. Annane,et al.  Mechanisms underlying effects of nocturnal ventilation on daytime blood gases in neuromuscular diseases. , 1999, The European respiratory journal.

[150]  A. Engel Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies. , 1970, Brain : a journal of neurology.

[151]  A. Engel Acid maltase deficiency of adult life. , 1969, Transactions of the American Neurological Association.