International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy

[1]  H. Dumas,et al.  Construct validity of the pediatric evaluation of disability inventory computer adaptive test (PEDI-CAT) in children with medical complexity , 2017, Disability and rehabilitation.

[2]  J. Smeitink,et al.  Quantification of gait in mitochondrial m.3243A > G patients: a validation study , 2017, Orphanet Journal of Rare Diseases.

[3]  M. Tarnopolsky,et al.  Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project , 2017, Journal of Inherited Metabolic Disease.

[4]  S. Knuijt,et al.  The 6‐min mastication test: a unique test to assess endurance of continuous chewing, normal values, reliability, reproducibility and usability in patients with mitochondrial disease , 2017, Journal of oral rehabilitation.

[5]  Francesco Muntoni,et al.  Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool , 2017, PloS one.

[6]  K. Meijer,et al.  Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach. , 2017, JIMD reports.

[7]  R. Finkel,et al.  Rasch analysis of the Pediatric Evaluation of Disability Inventory–computer adaptive test (PEDI‐CAT) item bank for children and young adults with spinal muscular atrophy , 2016, Muscle & nerve.

[8]  M. Zeviani,et al.  FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders , 2016, Neurology.

[9]  Wolfgang Bogner,et al.  Dynamic 31P–MRSI using spiral spectroscopic imaging can map mitochondrial capacity in muscles of the human calf during plantar flexion exercise at 7 T , 2016, NMR in biomedicine.

[10]  J. Montes,et al.  Six‐minute walk test is reliable and valid in spinal muscular atrophy , 2016, Muscle & nerve.

[11]  C. Viscomi.  Toward a therapy for mitochondrial disease , 2016, Biochemical Society transactions.

[12]  J. Pépin,et al.  Usefulness of transcutaneous PCO2 to assess nocturnal hypoventilation in restrictive lung disorders , 2016, Respirology.

[13]  L. Lins,et al.  SF-36 total score as a single measure of health-related quality of life: Scoping review , 2016, SAGE open medicine.

[14]  U. Mellies,et al.  Respiratory Muscle Weakness and Respiratory Failure in Pediatric Neuromuscular Disorders: The Value of Noninvasive Determined Tension-Time Index , 2016, Neuropediatrics.

[15]  Marni J. Falk,et al.  International Paediatric Mitochondrial Disease Scale , 2016, Journal of Inherited Metabolic Disease.

[16]  R. Rodenburg,et al.  Mitochondrial disorders in children: toward development of small‐molecule treatment strategies , 2016, EMBO molecular medicine.

[17]  S. Shinkai,et al.  Secreted growth differentiation factor 15 as a potential biomarker for mitochondrial dysfunctions in aging and age‐related disorders , 2016, Geriatrics & gerontology international.

[18]  F. Villarroya,et al.  GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction , 2016, PloS one.

[19]  Sally J. Singh,et al.  Use of exercise testing in the evaluation of interventional efficacy: an official ERS statement , 2016, European Respiratory Journal.

[20]  Y. Fukumoto,et al.  Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders , 2015, Annals of neurology.

[21]  Marni J. Falk,et al.  Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society , 2014, Genetics in Medicine.

[22]  Anthony F Jorm.  Using the Delphi expert consensus method in mental health research , 2015, The Australian and New Zealand journal of psychiatry.

[23]  Robert W. Taylor,et al.  Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease , 2015, Journal of neuromuscular diseases.

[24]  T. Kojima,et al.  GDF15 is a novel biomarker to evaluate efficacy of pyruvate therapy for mitochondrial diseases. , 2015, Mitochondrion.

[25]  D. Vriens,et al.  Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G Carriers. , 2015, JIMD reports.

[26]  I. Rivera,et al.  The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders , 2015, Journal of Inherited Metabolic Disease.

[27]  M. Tamm,et al.  Oxygen kinetics during 6-minute walk tests in patients with cardiovascular and pulmonary disease , 2014, BMC Pulmonary Medicine.

[28]  R. Pitceathly,et al.  Mitochondrial myopathies in adults and children: management and therapy development. , 2014, Current opinion in neurology.

[29]  M. Brutsche,et al.  Cardiopulmonary and Gas-Exchange Responses during the Six-Minute Walk Test in Patients with Chronic Obstructive Pulmonary Disease , 2014, Respiration.

[30]  D. Vivo,et al.  Performance of the timed “up & go” test in spinal muscular atrophy , 2014, Muscle & nerve.

[31]  B. Fauroux,et al.  Neuromuscular disease and respiratory physiology in children: Putting lung function into perspective , 2014, Respirology.

[32]  G. Enns.  Treatment of Mitochondrial Disorders , 2014, Journal of child neurology.

[33]  Elizabeth T. Kennedy,et al.  The efficacy of GMFM-88 and GMFM-66 to detect changes in gross motor function in children with cerebral palsy (CP): a literature review , 2014, Disability and rehabilitation.

[34]  A. Tveter,et al.  Measuring health-related physical fitness in physiotherapy practice: reliability, validity, and feasibility of clinical field tests and a patient-reported measure. , 2014, The Journal of orthopaedic and sports physical therapy.

[35]  M. Stokes,et al.  Reliability and acceptability of measuring sniff nasal inspiratory pressure (SNIP) and peak inspiratory flow (PIF) to assess respiratory muscle strength in older adults: a preliminary study , 2014, Aging Clinical and Experimental Research.

[36]  R. Ryan,et al.  Metabolic biology of 3-methylglutaconic acid-uria: a new perspective , 2014, Journal of Inherited Metabolic Disease.

[37]  G. Meola,et al.  Report of the first Outcome Measures in Myotonic Dystrophy type 1 (OMMYD-1) international workshop Clearwater, Florida, November 30, 2011 , 2013, Neuromuscular Disorders.

[38]  Ryan L. Davis,et al.  Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease , 2013, Neurology.

[39]  B. Wong,et al.  Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. , 2013, Molecular genetics and metabolism.

[40]  J. Smeitink,et al.  Towards the harmonization of outcome measures in children with mitochondrial disorders , 2013, Developmental medicine and child neurology.

[41]  S. Peltz,et al.  THE 6-MINUTE WALK TEST AND OTHER CLINICAL ENDPOINTS IN DUCHENNE MUSCULAR DYSTROPHY: RELIABILITY, CONCURRENT VALIDITY, AND MINIMAL CLINICALLY IMPORTANT DIFFERENCES FROM A MULTICENTER STUDY , 2013, Muscle & nerve.

[42]  S. Peltz,et al.  THE 6-MINUTE WALK TEST AND OTHER ENDPOINTS IN DUCHENNE MUSCULAR DYSTROPHY: LONGITUDINAL NATURAL HISTORY OBSERVATIONS OVER 48 WEEKS FROM A MULTICENTER STUDY , 2013, Muscle & nerve.

[43]  A. Suomalainen.  Fibroblast growth factor 21: a novel biomarker for human muscle-manifesting mitochondrial disorders. , 2013, Expert opinion on medical diagnostics.

[44]  S. Wortmann,et al.  Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents? , 2013, Mitochondrion (Amsterdam. Print).

[45]  I. Baguley,et al.  Test-retest reliability of computerised hand dynamometry in adults with acquired brain injury. , 2012, Australian occupational therapy journal.

[46]  M. Tarnopolsky.  Exercise testing in metabolic myopathies. , 2012, Physical medicine and rehabilitation clinics of North America.

[47]  M. Wiberg,et al.  Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency , 2012, Acta ophthalmologica.

[48]  J. Shuster,et al.  The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. , 2012, Molecular genetics and metabolism.

[49]  K. Haginoya,et al.  Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene , 2011, Pediatrics International.

[50]  R. Haller,et al.  Exertional dyspnea in mitochondrial myopathy: clinical features and physiological mechanisms. , 2011, American journal of physiology. Regulatory, integrative and comparative physiology.

[51]  W. Chung,et al.  Validation of the Expanded Hammersmith Functional Motor Scale in Spinal Muscular Atrophy Type II and III , 2011, Journal of child neurology.

[52]  A. Paetau,et al.  FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study , 2011, The Lancet Neurology.

[53]  P. Carding,et al.  The clinical application of the 100mL water swallow test in head and neck cancer. , 2011, Oral oncology.

[54]  L. Arnold,et al.  Correlations between fibromyalgia symptom and function domains and patient global impression of change: a pooled analysis of three randomized, placebo-controlled trials of pregabalin. , 2011, Pain medicine.

[55]  W. Chung,et al.  Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) , 2011, Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association.

[56]  J. Varni,et al.  The PedsQL™ Infant Scales: feasibility, internal consistency reliability, and validity in healthy and ill infants , 2011, Quality of Life Research.

[57]  J. Kissel,et al.  SIX-MINUTE WALK TEST DEMONSTRATES MOTOR FATIGUE IN SPINAL MUSCULAR ATROPHY , 2010, Neurology.

[58]  J. Varni,et al.  The PedsQL™ in Pediatric Patients with Duchenne Muscular Dystrophy: Feasibility, Reliability, and Validity of the Pediatric Quality of Life Inventory Neuromuscular Module and Generic Core Scales , 2010, Journal of clinical neuromuscular disease.

[59]  R. Finkel,et al.  The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability , 2010, Neuromuscular Disorders.

[60]  S. Haley,et al.  Lessons from Use of the Pediatric Evaluation of Disability Inventory: Where Do We Go from Here? , 2010, Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association.

[61]  J. Varni,et al.  The pediatric quality of life inventory: measuring pediatric health-related quality of life from the perspective of children and their parents. , 2009, Pediatric clinics of North America.

[62]  O. Baskurt,et al.  Relationships between hemodynamic, hemorheological and metabolic responses during exercise. , 2009, Biorheology.

[63]  R. Rodenburg,et al.  Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. , 2009, Brain : a journal of neurology.

[64]  R. Finkel,et al.  An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients , 2007, Neuromuscular Disorders.

[65]  G. Mitchell,et al.  Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis. , 2007, Clinical chemistry.

[66]  J. Fries,et al.  The Patient-Reported Outcomes Measurement Information System (PROMIS): Progress of an NIH Roadmap Cooperative Group During its First Two Years , 2007, Medical care.

[67]  B. Fauroux,et al.  Measurement of maximal pressures and the sniff manoeuvre in children. , 2007, Paediatric respiratory reviews.

[68]  Mônica Corso Pereira,et al.  Insuficiência respiratória crônica nas doenças neuromusculares: diagnóstico e tratamento , 2007 .

[69]  J. Mendell,et al.  Challenges in drug development for muscle disease: A stakeholders' meeting , 2007, Muscle & nerve.

[70]  I. Paschoal,et al.  Chronic respiratory failure in patients with neuromuscular diseases: diagnosis and treatment. , 2007, Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia.

[71]  G. Uziel,et al.  A scale to monitor progression and treatment of mitochondrial disease in children , 2006, Neuromuscular Disorders.

[72]  Klaas Nicolay,et al.  Dynamic MRS and MRI of skeletal muscle function and biomechanics , 2006, NMR in Biomedicine.

[73]  D. Turnbull,et al.  Mitochondrial disease in adults: A scale to monitor progression and treatment , 2006, Neurology.

[74]  J F Fries,et al.  The promise of PROMIS: using item response theory to improve assessment of patient-reported outcomes. , 2005, Clinical and experimental rheumatology.

[75]  G. Samsa,et al.  Quantitative myasthenia gravis score: Assessment of responsiveness and longitudinal validity , 2005, Neurology.

[76]  A. Schaefer,et al.  Ocular motility findings in chronic progressive external ophthalmoplegia , 2003, Eye.

[77]  M. Tarnopolsky.  Exercise testing as a diagnostic entity in mitochondrial myopathies. , 2004, Mitochondrion.

[78]  B. Barshop.  Metabolomic approaches to mitochondrial disease: correlation of urine organic acids. , 2004, Mitochondrion.

[79]  P. Lachenbruch,et al.  Validation and clinical significance of the Childhood Myositis Assessment Scale for assessment of muscle function in the juvenile idiopathic inflammatory myopathies. , 2004, Arthritis and rheumatism.

[80]  M. Tarnopolsky,et al.  Diagnostic utility of a modified forearm ischemic exercise test and technical issues relevant to exercise testing , 2003, Muscle & nerve.

[81]  S. Dimauro,et al.  The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients. , 2003, Brain : a journal of neurology.

[82]  M. Morris,et al.  Concurrent related validity of the GAITRite walkway system for quantification of the spatial and temporal parameters of gait. , 2003, Gait & posture.

[83]  R. Haller,et al.  Venous oxygen levels during aerobic forearm exercise: An index of impaired oxidative metabolism in mitochondrial myopathy , 2002, Annals of neurology.

[84]  W. Nyhan,et al.  Creatine kinase and uric acid: early warning for metabolic imbalance resulting from disorders of fatty acid oxidation , 2001, European Journal of Pediatrics.

[85]  M. Batavia,et al.  The validity and reliability of the GAITRite system's measurements: A preliminary evaluation. , 2001, Archives of physical medicine and rehabilitation.

[86]  D. Arnold,et al.  Insights into muscle diseases gained by phosphorus magnetic resonance spectroscopy , 2000, Muscle & nerve.

[87]  G. Huberfeld,et al.  Validity and reliability of two muscle strength scores commonly used as endpoints in assessing treatment of myasthenia gravis , 2000, Journal of Neurology.

[88]  R. Naviaux,et al.  Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria. , 2000, Molecular genetics and metabolism.

[89]  Stephen M. Haley,et al.  Pediatric evaluation of disability inventory (PEDI) : development, standardization and administration manual , 1998 .

[90]  C. M. Wiles,et al.  The clinical measurement of swallowing in health and in neurogenic dysphagia. , 1996, Dysphagia.

[91]  C. M. Wiles,et al.  Clinical measurement of swallowing in health and in neurogenic dysphagia. , 1996, QJM : monthly journal of the Association of Physicians.

[92]  E. Smets,et al.  The Multidimensional Fatigue Inventory (MFI) psychometric qualities of an instrument to assess fatigue. , 1995, Journal of psychosomatic research.

[93]  S. Saxena,et al.  The World Health Organization Quality of Life assessment (WHOQOL): position paper from the World Health Organization. , 1995, Social science & medicine.

[94]  C. Marsden,et al.  A 31P magnetic resonance spectroscopy study of mitochondrial function in skeletal muscle of patients with Parkinson's disease , 1994, Journal of the Neurological Sciences.

[95]  G K Radda,et al.  Quantitative interpretation of bioenergetic data from 31P and 1H magnetic resonance spectroscopic studies of skeletal muscle: an analytical review. , 1994, Magnetic resonance quarterly.

[96]  S. Wessely,et al.  Development of a fatigue scale. , 1993, Journal of psychosomatic research.

[97]  C. Wiles,et al.  A timed test of swallowing capacity for neurological patients. , 1992, Journal of neurology, neurosurgery, and psychiatry.

[98]  M. A. Wehmer,et al.  The West Haven‐Yale Multidimensional Pain Inventory(WHYMPI) , 1990 .

[99]  D. Cadman,et al.  THE GROSS MOTOR FUNCTION MEASURE: A MEANS TO EVALUATE THE EFFECTS OF PHYSICAL THERAPY , 1989, Developmental medicine and child neurology.

[100]  S. Dimauro,et al.  Mitochondrial diseases. , 1989, Neurologic clinics.

[101]  D. Turk,et al.  The West Haven-Yale Multidimensional Pain Inventory (WHYMPI) , 1985, Pain.

[102]  G. Guyatt,et al.  The 6-minute walk: a new measure of exercise capacity in patients with chronic heart failure. , 1985, Canadian Medical Association journal.

[103]  V. Mathiowetz,et al.  Adult Norms for the Nine Hole Peg Test of Finger Dexterity , 1985 .

[104]  B Chance,et al.  Mitochondrial regulation of phosphocreatine/inorganic phosphate ratios in exercising human muscle: a gated 31P NMR study. , 1981, Proceedings of the National Academy of Sciences of the United States of America.

[105]  N. Silberberg,et al.  Hand strength and dexterity. , 1971, The American journal of occupational therapy : official publication of the American Occupational Therapy Association.