Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

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

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

[3]  E. Mercuri,et al.  Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial , 2017, The Lancet Neurology.

[4]  R. Finkel,et al.  218th ENMC International Workshop: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19–21 February 2016 , 2017, Neuromuscular Disorders.

[5]  H. Kölbel,et al.  Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III , 2017, PloS one.

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

[7]  T. Sejersen,et al.  Parents' Experiences and Wishes at End of Life in Children with Spinal Muscular Atrophy Types I and II. , 2016, The Journal of pediatrics.

[8]  Jacqueline Montes,et al.  Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy , 2016, Neurology.

[9]  Xiaoqing Zhang,et al.  Abnormal mitochondrial transport and morphology as early pathological changes in human models of spinal muscular atrophy , 2016, Disease Models & Mechanisms.

[10]  M. Pane,et al.  1st Italian SMA Family Association Consensus Meeting:: Management and recommendations for respiratory involvement in spinal muscular atrophy (SMA) types I–III, Rome, Italy, 30–31 January 2015 , 2015, Neuromuscular Disorders.

[11]  E. Bertini,et al.  Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standards of Care? , 2014, Neuropediatrics.

[12]  R. Vialle,et al.  Non-invasive positive pressure ventilation to facilitate the post-operative respiratory outcome of spine surgery in neuromuscular children , 2014, European Spine Journal.

[13]  R. Martino-Alba,et al.  Palliative care in children with spinal muscular atrophy type I: What do they need? , 2014, Palliative & Supportive Care.

[14]  M. Schroth,et al.  SMA valiant trial: A prospective, double‐blind, placebo‐controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy , 2014, Muscle & nerve.

[15]  C. Lorson,et al.  Spinal muscular atrophy: a motor neuron disorder or a multi‐organ disease? , 2014, Journal of anatomy.

[16]  J. Norton,et al.  Preservation of Motor Evoked Potentials Under Anesthesia in Children With Spinal Muscular Atrophy Type II Undergoing Spinal Deformity Surgery , 2013, Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society.

[17]  L. Ravà,et al.  Survival of Patients With Spinal Muscular Atrophy Type 1 , 2013, Pediatrics.

[18]  B. Estournet,et al.  Recommendations for the diagnosis and management of typical childhood spinal muscular atrophy. , 2012, Revue neurologique.

[19]  W. Chung,et al.  Prospective cohort study of spinal muscular atrophy types 2 and 3 , 2012, Neurology.

[20]  B. Alman,et al.  Abnormal fatty acid metabolism in spinal muscular atrophy may predispose to perioperative risks. , 2012, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[21]  M. Bowerman,et al.  Glucose metabolism and pancreatic defects in spinal muscular atrophy , 2012, Annals of neurology.

[22]  A. Simonds,et al.  British Thoracic Society guideline for respiratory management of children with neuromuscular weakness , 2012, Thorax.

[23]  S. Bratton,et al.  Spinal muscular atrophy type 1: Are proactive respiratory interventions associated with longer survival? , 2012, Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.

[24]  L. H. van den Berg,et al.  Drug treatment for spinal muscular atrophy types II and III. , 2012, The Cochrane database of systematic reviews.

[25]  E. Viggiano,et al.  Cardiac involvement in patients with Spinal Muscular Atrophies , 2011, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

[26]  C. Gregoretti,et al.  Spinal Muscular Atrophy Type 1: Avoidance of Hospitalization by Respiratory Muscle Support , 2011, American journal of physical medicine & rehabilitation.

[27]  C. Lorson,et al.  Cardiac defects contribute to the pathology of spinal muscular atrophy models. , 2010, Human molecular genetics.

[28]  A. Penzo,et al.  Parental role in the Intensive Care Unit for children affected by Werdnig Hoffmann disease. , 2010, Minerva pediatrica.

[29]  M. Paglietti,et al.  Respiratory problems in spinal muscular atrophy in the paediatric age group , 2009 .

[30]  R. Graham,et al.  Anesthesia and perioperative medical management of children with spinal muscular atrophy , 2009, Paediatric anaesthesia.

[31]  R. Quinlivan,et al.  Implementation of “the consensus statement for the standard of care in spinal muscular atrophy” when applied to infants with severe type 1 SMA in the UK , 2009, Archives of Disease in Childhood.

[32]  M. Khaidakov,et al.  Mitochondrial dysfunction in a neural cell model of spinal muscular atrophy , 2009, Journal of neuroscience research.

[33]  M. Curley,et al.  Experiencing the pediatric intensive care unit: Perspective from parents of children with severe antecedent disabilities* , 2009, Critical care medicine.

[34]  M. Schroth Special Considerations in the Respiratory Management of Spinal Muscular Atrophy , 2009, Pediatrics.

[35]  B. Wirth,et al.  Congenital heart disease is a feature of severe infantile spinal muscular atrophy , 2008, Journal of Medical Genetics.

[36]  M. Main,et al.  Daily salbutamol in young patients with SMA type II , 2008, Neuromuscular Disorders.

[37]  M. Ryan,et al.  Physician attitudes towards ventilatory support for spinal muscular atrophy type 1 in Australasia , 2007, Journal of paediatrics and child health.

[38]  Paul C Snelling Death's Dominion. Ethics at the End of Life , 2007 .

[39]  Paul Snelling BSc Ma Rn Death's Dominion. Ethics at the End of Life , 2007 .

[40]  Ching H. Wang,et al.  Consensus Statement for Standard of Care in Spinal Muscular Atrophy , 2007, Journal of child neurology.

[41]  J. Bach,et al.  Long-Term Survival in Werdnig–Hoffmann Disease , 2007, American journal of physical medicine & rehabilitation.

[42]  J. Bach Medical Considerations of Long-Term Survival of Werdnig–Hoffmann Disease , 2007, American journal of physical medicine & rehabilitation.

[43]  E. Bertini,et al.  Noninvasive Ventilation in Children with Spinal Muscular Atrophy Types 1 and 2 , 2007, American journal of physical medicine & rehabilitation.

[44]  Takashi Sugamori,et al.  Cardiac involvement in Kugelberg-Welander disease: a case report and review. , 2006, The American journal of the medical sciences.

[45]  A K Simonds,et al.  Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia , 2005, Thorax.

[46]  A. Corrado,et al.  Mechanical Insufflation–Exsufflation Improves Outcomes for Neuromuscular Disease Patients with Respiratory Tract Infections , 2005, American journal of physical medicine & rehabilitation.

[47]  V. Wong,et al.  Spinal Muscular Atrophy: Survival Pattern and Functional Status , 2004, Pediatrics.

[48]  R. Shiffman,et al.  Classifying Recommendations for Clinical Practice Guidelines , 2004, Pediatrics.

[49]  J. Vissing,et al.  Patients with severe muscle wasting are prone to develop hypoglycemia during fasting , 2003, Neurology.

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

[51]  J. Bach Threats to [ldquo ]informed[rdquo ] advance directives for the severely physically challenged? , 2003 .

[52]  R. Truog,et al.  Respiratory support in spinal muscular atrophy type I: a survey of physician practices and attitudes. , 2002, Pediatrics.

[53]  J. Bach,et al.  Spinal muscular atrophy type 1: Management and outcomes , 2002, Pediatric pulmonology.

[54]  J. Bach,et al.  Spinal muscular atrophy type 1: A noninvasive respiratory management approach. , 2000, Chest.

[55]  Y. Sakakihara Ethical attitudes of Japanese physicians regarding life-sustaining treatment for children with severe neurological disabilities , 2000, Brain and Development.

[56]  T. Crawford,et al.  Abnormal fatty acid metabolism in childhood spinal muscular atrophy , 1999, Annals of neurology.

[57]  G. Dreyfuss,et al.  A Novel Function for SMN, the Spinal Muscular Atrophy Disease Gene Product, in Pre-mRNA Splicing , 1998, Cell.

[58]  M. Baiget,et al.  Cell-specific survival motor neuron gene expression during human development of the central nervous system: implications for the pathogenesis of spinal muscular atrophy. , 1998, The American journal of pathology.

[59]  T. Crawford,et al.  The survival motor neuron protein in spinal muscular atrophy. , 1997, Human molecular genetics.

[60]  G. Vaksmann,et al.  [Cardiac involvement in Kugelberg-Welander disease. A prospective study of 8 cases]. , 1996, Archives des maladies du coeur et des vaisseaux.

[61]  J. Kondrup,et al.  Hypogkycaemia in spinal muscular atrophy , 1995, The Lancet.

[62]  S. Iannaccone,et al.  Pulmonary Function in Spinal Muscular Atrophy , 1994, Journal of child neurology.

[63]  G. Hamilton,et al.  Spinal muscular atrophy: going beyond the motor neuron. , 2013, Trends in molecular medicine.

[64]  M. Kiernan,et al.  Pathophysiological insights derived by natural history and motor function of spinal muscular atrophy. , 2013, The Journal of pediatrics.

[65]  L. H. van den Berg,et al.  Drug treatment for spinal muscular atrophy types II and III. , 2009, The Cochrane database of systematic reviews.

[66]  L. H. van den Berg,et al.  Drug treatment for spinal muscular atrophy type I. , 2009, The Cochrane database of systematic reviews.

[67]  I. Mitchell Spinal muscular atrophy type 1: what are the ethics and practicality of respiratory support? , 2006, Paediatric respiratory reviews.

[68]  J. Bach Threats to "informed" advance directives for the severely physically challenged? , 2003, Archives of physical medicine and rehabilitation.

[69]  M. Hirano Pilot trial of albuterol in spinal muscular atrophy. , 2003, Current neurology and neuroscience reports.

[70]  D. Millington,et al.  Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: primary or secondary defect(s)? , 1995, Pediatric neurology.

[71]  J. Kondrup,et al.  Hypoglycaemia in spinal muscular atrophy. , 1995, Lancet.