Literature DB >> 29074296

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

Michelangelo Mancuso1, Robert McFarland2, Thomas Klopstock3, Michio Hirano4.   

Abstract

Entities:  

Mesh：

Year:  2017        PMID： 29074296      PMCID： PMC6094160          DOI： 10.1016/j.nmd.2017.08.006

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  102 in total

1.  Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency.

Authors:  Kristina Teär Fahnehjelm; Monica Olsson; Karin Naess; Maria Wiberg; Jan Ygge; Lene Martin; Ulrika von Döbeln
Journal:  Acta Ophthalmol       Date:  2010-03-23       Impact factor: 3.761

Review 2.  Use of exercise testing in the evaluation of interventional efficacy: an official ERS statement.

Authors:  Luis Puente-Maestu; Paolo Palange; Richard Casaburi; Pierantonio Laveneziana; François Maltais; J Alberto Neder; Denis E O'Donnell; Paolo Onorati; Janos Porszasz; Roberto Rabinovich; Harry B Rossiter; Sally Singh; Thierry Troosters; Susan Ward
Journal:  Eur Respir J       Date:  2016-01-21       Impact factor: 16.671

3.  The pediatric quality of life inventory: measuring pediatric health-related quality of life from the perspective of children and their parents.

Authors:  James W Varni; Christine A Limbers
Journal:  Pediatr Clin North Am       Date:  2009-08       Impact factor: 3.278

Review 4.  Lessons from use of the Pediatric Evaluation of Disability Inventory: where do we go from here?

Authors:  Stephen M Haley; Wendy I Coster; Ying-Chia Kao; Helene M Dumas; Maria A Fragala-Pinkham; Jessica M Kramer; Larry H Ludlow; Richard Moed
Journal:  Pediatr Phys Ther       Date:  2010       Impact factor: 3.049

5.  Construct validity of the pediatric evaluation of disability inventory computer adaptive test (PEDI-CAT) in children with medical complexity.

Authors:  Helene M Dumas; Maria A Fragala-Pinkham; Elaine L Rosen; Jane E O'Brien
Journal:  Disabil Rehabil       Date:  2016-09-19       Impact factor: 3.033

Review 6.  Exercise testing in metabolic myopathies.

Authors:  Mark Tarnopolsky
Journal:  Phys Med Rehabil Clin N Am       Date:  2011-12-11       Impact factor: 1.784

7.  The 6-minute walk: a new measure of exercise capacity in patients with chronic heart failure.

Authors:  G H Guyatt; M J Sullivan; P J Thompson; E L Fallen; S O Pugsley; D W Taylor; L B Berman
Journal:  Can Med Assoc J       Date:  1985-04-15       Impact factor: 8.262

Review 8.  Chronic respiratory failure in patients with neuromuscular diseases: diagnosis and treatment.

Authors:  Ilma Aparecida Paschoal; Wander de Oliveira Villalba; Mônica Corso Pereira
Journal:  J Bras Pneumol       Date:  2007 Jan-Feb       Impact factor: 2.624

9.  Fibroblast growth factor 21: a novel biomarker for human muscle-manifesting mitochondrial disorders.

Authors:  Anu Suomalainen
Journal:  Expert Opin Med Diagn       Date:  2013-06-20

10.  The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study.

Authors:  Craig M McDonald; Erik K Henricson; R Ted Abresch; Julaine M Florence; Michelle Eagle; Eduard Gappmaier; Allan M Glanzman; Robert Spiegel; Jay Barth; Gary Elfring; Allen Reha; Stuart Peltz
Journal:  Muscle Nerve       Date:  2013-06-26       Impact factor: 3.217
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  19 in total

Review 1.  Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).

Authors:  Valentina Emmanuele; Jaya Ganesh; Georgirene Vladutiu; Richard Haas; Douglas Kerr; Russell P Saneto; Bruce H Cohen; Johan L K Van Hove; Fernando Scaglia; Charles Hoppel; Xiomara Q Rosales; Emanuele Barca; Richard Buchsbaum; John L Thompson; Salvatore DiMauro; Michio Hirano
Journal:  Mol Genet Metab       Date:  2022-05-13       Impact factor: 4.204

2.  Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy.

Authors:  Vincenzo Montano; Francesco Gruosso; Valerio Carelli; Giacomo Pietro Comi; Massimiliano Filosto; Costanza Lamperti; Tiziana Mongini; Olimpia Musumeci; Serenella Servidei; Paola Tonin; Antonio Toscano; Angela Modenese; Guido Primiano; Maria Lucia Valentino; Sara Bortolani; Silvia Marchet; Megi Meneri; Graziana Tavilla; Gabriele Siciliano; Michelangelo Mancuso
Journal:  Neurol Genet       Date:  2020-10-20

3.  Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.

Authors:  Cristina Domínguez-González; Roberto Fernández-Torrón; Ursula Moore; Carlos Pablo de Fuenmayor-Fernández de la Hoz; Beatriz Vélez-Gómez; Juan Antonio Cabezas; Jorge Alonso-Pérez; Laura González-Mera; Montse Olivé; Jorge García-García; Germán Moris; Juan Carlos León Hernández; Nuria Muelas; Emilia Servian-Morilla; Miguel A Martin; Jordi Díaz-Manera; Carmen Paradas
Journal:  J Neurol       Date:  2022-03-14       Impact factor: 6.682

4.  Understanding mitochondrial myopathies: a review.

Authors:  Abhimanyu S Ahuja
Journal:  PeerJ       Date:  2018-05-21       Impact factor: 2.984

5.  Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop.

Authors:  Saskia Koene; Lara van Bon; Enrico Bertini; Cecilia Jimenez-Moreno; Lianne van der Giessen; Imelda de Groot; Robert McFarland; Sumit Parikh; Shamima Rahman; Michelle Wood; Jiri Zeman; Anjo Janssen; Jan Smeitink
Journal:  J Inherit Metab Dis       Date:  2018-07-19       Impact factor: 4.982

Review 6.  Mitochondrial disorders and drugs: what every physician should know.

Authors:  Daniele Orsucci; Elena Caldarazzo Ienco; Gabriele Siciliano; Michelangelo Mancuso
Journal:  Drugs Context       Date:  2019-07-04

7.  Serum biomarkers in primary mitochondrial disorders.

Authors:  Kristin N Varhaug; Omar Hikmat; Hanne Linda Nakkestad; Christian A Vedeler; Laurence A Bindoff
Journal:  Brain Commun       Date:  2021-01-04

Review 8.  Towards a therapy for mitochondrial disease: an update.

Authors:  Caterina Garone; Carlo Viscomi
Journal:  Biochem Soc Trans       Date:  2018-10-08       Impact factor: 5.407

9.  Consensus-based statements for the management of mitochondrial stroke-like episodes.

Authors:  Yi Shiau Ng; Laurence A Bindoff; Gráinne S Gorman; Rita Horvath; Thomas Klopstock; Michelangelo Mancuso; Mika H Martikainen; Robert Mcfarland; Victoria Nesbitt; Robert D S Pitceathly; Andrew M Schaefer; Doug M Turnbull
Journal:  Wellcome Open Res       Date:  2019-12-13

10.  A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy.

Authors:  Amel Karaa; Richard Haas; Amy Goldstein; Jerry Vockley; Bruce H Cohen
Journal:  J Cachexia Sarcopenia Muscle       Date:  2020-02-25       Impact factor: 12.910
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