Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial

[1]  B. Bartels,et al.  Natural history of lung function in spinal muscular atrophy , 2020, Orphanet Journal of Rare Diseases.

[2]  T. Mongini,et al.  Intrathecal administration of nusinersen in adult and adolescent patients with spinal muscular atrophy and scoliosis: Transforaminal versus conventional approach , 2019, Neuromuscular Disorders.

[3]  S. Kolb,et al.  Current Treatment Options in Neurology—SMA Therapeutics , 2019, Current Treatment Options in Neurology.

[4]  T. Takken,et al.  Assessment of fatigability in patients with spinal muscular atrophy: development and content validity of a set of endurance tests , 2019, BMC Neurology.

[5]  S. Ashwal,et al.  Evidence in focus: Nusinersen use in spinal muscular atrophy , 2018, Neurology.

[6]  M. Yaster,et al.  A retrospective cohort study of children with spinal muscular atrophy type 2 receiving anesthesia for intrathecal administration of nusinersen , 2018, Paediatric anaesthesia.

[7]  B. Bartels,et al.  A continuous repetitive task to detect fatigability in spinal muscular atrophy , 2018, Orphanet Journal of Rare Diseases.

[8]  L. Servais,et al.  Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study , 2018, PloS one.

[9]  T. Gillingwater,et al.  The role of survival motor neuron protein (SMN) in protein homeostasis , 2018, Cellular and Molecular Life Sciences.

[10]  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.

[11]  T. Hansen.  Use of anesthetics in young children Consensus statement of the European Society of Anaesthesiology (ESA), the European Society for Paediatric Anaesthesiology (ESPA), the European Association of Cardiothoracic Anaesthesiology (EACTA), and the European Safe Tots Anaesthesia Research Initiative (EuroS , 2017, Paediatric anaesthesia.

[12]  E. Ottesen,et al.  Diverse role of survival motor neuron protein. , 2017, Biochimica et biophysica acta. Gene regulatory mechanisms.

[13]  Nimrod Miller,et al.  Motor neuron mitochondrial dysfunction in spinal muscular atrophy. , 2016, Human molecular genetics.

[14]  A. Khandji,et al.  Intrathecal Injections in Children With Spinal Muscular Atrophy , 2016, Journal of child neurology.

[15]  R. Finkel,et al.  Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials , 2015, Neuromuscular Disorders.

[16]  G. Comi,et al.  Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy. , 2015, JAMA neurology.

[17]  R. Altman,et al.  Neurotoxicity of generic anesthesia agents in infants and children: an orphan research question in search of a sponsor. , 2015, JAMA.

[18]  M. Kiernan,et al.  The Genetics of Spinal Muscular Atrophy: Progress and Challenges , 2015, Neurotherapeutics.

[19]  M. Xilouri,et al.  Protective role of olesoxime against wild‐type α‐synuclein‐induced toxicity in human neuronally differentiated SHSY‐5Y cells , 2015, British journal of pharmacology.

[20]  R. Écochard,et al.  Development and validation of a motor function classification in patients with neuromuscular disease: the NM-score. , 2013, Annals of physical and rehabilitation medicine.

[21]  R. Écochard,et al.  Responsiveness of the motor function measure in patients with spinal muscular atrophy. , 2013, Archives of physical medicine and rehabilitation.

[22]  R. Pruss,et al.  Olesoxime protects embryonic cortical neurons from camptothecin intoxication by a mechanism distinct from BDNF , 2013, British journal of pharmacology.

[23]  E. Bertini,et al.  Childhood spinal muscular atrophy: controversies and challenges , 2012, The Lancet Neurology.

[24]  R. Finkel,et al.  Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study , 2012, PloS one.

[25]  J. Kissel,et al.  Spinal muscular atrophy: a timely review. , 2011, Archives of neurology.

[26]  P. Berna,et al.  Olesoxime (TRO19622): A Novel Mitochondrial-Targeted Neuroprotective Compound , 2010, Pharmaceuticals.

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

[28]  C. Beattie,et al.  Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? , 2009, Nature Reviews Neuroscience.

[29]  B. Russman.  Spinal Muscular Atrophy: Clinical Classification and Disease Heterogeneity , 2007, Journal of child neurology.

[30]  T. Crawford.  Concerns about the design of clinical trials for spinal muscular atrophy , 2004, Neuromuscular Disorders.

[31]  J. Carlin,et al.  Height prediction from ulna length , 2004 .

[32]  R. Sutomo,et al.  Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity , 2002, Journal of Neurology.

[33]  T. Wienker,et al.  Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. , 2002, American journal of human genetics.

[34]  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.

[35]  K. Zerres,et al.  Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. , 1995, Archives of neurology.

[36]  B. Brunekreef,et al.  Spirometric reference values for white European children and adolescents: Polgar revisited , 1995, Pediatric pulmonology.

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

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

[39]  J E Cotes,et al.  Lung volumes and forced ventilatory flows , 1993, European Respiratory Journal.

[40]  原田 陽介.  Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy : three SMN2 copies fail to rescue some patients from the disease severity , 2005 .