Sleep in pediatric neuromuscular disorders.
暂无分享,去创建一个
Z. Ehsan | N. Gurbani | Alexander M Zygmunt | John E Pascoe | Alexander Zygmunt | Zarmina Ehsan | J. E. Pascoe
[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.