Literature DB >> 21641800

173rd ENMC International Workshop: congenital muscular dystrophy outcome measures 5-7 March 2010, Naarden, The Netherlands.

C G Bönnemann1, A Rutkowski, E Mercuri, F Muntoni.   

Abstract

Entities:  

Mesh：

Year:  2011        PMID： 21641800      PMCID： PMC5210290          DOI： 10.1016/j.nmd.2011.04.004

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


× No keyword cloud information.
  21 in total

1.  Prediction of childhood pulmonary function using ulna length.

Authors:  Leanne M Gauld; Johanna Kappers; John B Carlin; Colin F Robertson
Journal:  Am J Respir Crit Care Med       Date:  2003-07-17       Impact factor: 21.405

2.  Respiratory function in congenital muscular dystrophy and limb girdle muscular dystrophy 2I.

Authors:  C Dohna-Schwake; R Ragette; U Mellies; V Straub; H Teschler; T Voit
Journal:  Neurology       Date:  2004-02-10       Impact factor: 9.910

3.  Ataxia and congenital muscular dystrophy: the follow-up of a new specific phenotype.

Authors:  C P Trevisan; E Pastorello; S Tonello; M Armani; M T Rigoni; A P Tormene; M P Freda; M Zortea; S Lombardi
Journal:  Brain Dev       Date:  2001-03       Impact factor: 1.961

4.  Feeding problems in merosin deficient congenital muscular dystrophy.

Authors:  J Philpot; A Bagnall; C King; V Dubowitz; F Muntoni
Journal:  Arch Dis Child       Date:  1999-06       Impact factor: 3.791

5.  The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy.

Authors:  Ulrike Schara; Wolfram Kress; Carsten G Bönnemann; Nico Breitbach-Faller; Christoph G Korenke; Gudrun Schreiber; Mechthild Stoetter; Ana Ferreiro; Maja von der Hagen
Journal:  Eur J Paediatr Neurol       Date:  2007-10-22       Impact factor: 3.140

6.  Measuring inspiratory muscle strength in neuromuscular disease: one test or two?

Authors:  N Terzi; D Orlikowski; C Fermanian; M Lejaille; L Falaize; A Louis; J-C Raphael; B Fauroux; F Lofaso
Journal:  Eur Respir J       Date:  2007-09-26       Impact factor: 16.671

7.  POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

Authors:  S Messina; M Mora; E Pegoraro; A Pini; T Mongini; A D'Amico; M Pane; C Aiello; C Bruno; R Biancheri; A Berardinelli; C Boito; L Farina; L Morandi; I Moroni; R Pezzani; A Pichiecchio; E Ricci; A Ruggieri; S Saredi; C Scuderi; A Tessa; A Toscano; G Tortorella; C P Trevisan; C Uggetti; F M Santorelli; E Bertini; E Mercuri
Journal:  Neuromuscul Disord       Date:  2008-06-02       Impact factor: 4.296

8.  Daytime predictors of sleep disordered breathing in children and adolescents with neuromuscular disorders.

Authors:  Uwe Mellies; Regine Ragette; Christian Schwake; Holger Boehm; Thomas Voit; Helmut Teschler
Journal:  Neuromuscul Disord       Date:  2003-02       Impact factor: 4.296

9.  Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

Authors:  Emma Clement; Eugenio Mercuri; Caroline Godfrey; Janine Smith; Stephanie Robb; Maria Kinali; Volker Straub; Kate Bushby; Adnan Manzur; Beril Talim; Frances Cowan; Ros Quinlivan; Andrea Klein; Cheryl Longman; Robert McWilliam; Haluk Topaloglu; Rachael Mein; Stephen Abbs; Kathryn North; A James Barkovich; Mary Rutherford; Francesco Muntoni
Journal:  Ann Neurol       Date:  2008-11       Impact factor: 10.422

10.  Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.

Authors:  M Villanova; E Mercuri; E Bertini; P Sabatelli; L Morandi; M Mora; C Sewry; M Brockington; S C Brown; A Ferreiro; N M Maraldi; T Toda; P Guicheney; L Merlini; F Muntoni
Journal:  Neuromuscul Disord       Date:  2000-12       Impact factor: 4.296
View more
  9 in total

1.  Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy.

Authors:  Roxanna M Bendixen; Jocelyn Butrum; Mina S Jain; Rebecca Parks; Bonnie Hodsdon; Carmel Nichols; Michelle Hsia; Leslie Nelson; Katherine C Keller; Michelle McGuire; Jeffrey S Elliott; Melody M Linton; Irene C Arveson; Fatou Tounkara; Ruhi Vasavada; Elizabeth Harnett; Monal Punjabi; Sandra Donkervoort; Jahannaz Dastgir; Meganne E Leach; Anne Rutkowski; Melissa Waite; James Collins; Carsten G Bönnemann; Katherine G Meilleur
Journal:  Neuromuscul Disord       Date:  2016-12-05       Impact factor: 4.296

2.  Rasch analysis of the motor function measure in patients with congenital muscle dystrophy and congenital myopathy.

Authors:  Carole Vuillerot; Pascal Rippert; Virginie Kinet; Anne Renders; Minal Jain; Melissa Waite; Allan M Glanzman; Francoise Girardot; Dalil Hamroun; Jean Iwaz; René Ecochard; Susana Quijano-Roy; Carole Bérard; Isabelle Poirot; Carsten G Bönnemann
Journal:  Arch Phys Med Rehabil       Date:  2014-06-25       Impact factor: 3.966

3.  Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies.

Authors:  Katherine G Meilleur; Minal S Jain; Linda S Hynan; Ching-Yi Shieh; Eunice Kim; Melissa Waite; Michelle McGuire; Courtney Fiorini; Allan M Glanzman; Marion Main; Kristy Rose; Tina Duong; Roxanna Bendixen; Melody M Linton; Irene C Arveson; Carmel Nichols; Kelly Yang; Kenneth H Fischbeck; Kathryn R Wagner; Kathryn North; Ami Mankodi; Christopher Grunseich; Elizabeth J Hartnett; Michaele Smith; Sandra Donkervoort; Alice Schindler; Angela Kokkinis; Meganne Leach; A Reghan Foley; James Collins; Francesco Muntoni; Anne Rutkowski; Carsten G Bönnemann
Journal:  Neuromuscul Disord       Date:  2014-09-28       Impact factor: 4.296

4.  Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.

Authors:  Minal S Jain; Katherine Meilleur; Eunhee Kim; Gina Norato; Melissa Waite; Leslie Nelson; Michelle McGuire; Tina Duong; Katherine Keller; Donovan J Lott; Allan Glanzman; Kristy Rose; Marion Main; Courtney Fiorini; Irene Chrismer; Melody Linton; Monal Punjabi; Jeffrey Elliott; Fatoumata Tounkara; Ruhi Vasavada; Ranjani Logaraj; Jocelyn Winkert; Sandra Donkervoort; Meganne Leach; Jahannaz Dastgir; Linda Hynan; Carmel Nichols; Elizabeth Hartnett; Gilberto M Averion; James C Collins; Eunice S Kim; Angela Kokkinis; Alice Schindler; Kristen Zukosky; Robert Fee; Veronica Hinton; Payam Mohassel; Diana Bharucha-Goebel; Carole Vuillerot; Peter McGraw; Mark Barton; Joseph Fontana; Anne Rutkowski; A Reghan Foley; Carsten G Bönnemann
Journal:  Neurology       Date:  2019-10-25       Impact factor: 9.910

5.  Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin.

Authors:  David P Bishop; Mika T Westerhausen; Florian Barthelemy; Thomas Lockwood; Nerida Cole; Elizabeth M Gibbs; Rachelle H Crosbie; Stanley F Nelson; M Carrie Miceli; Philip A Doble; Jonathan Wanagat
Journal:  Sci Rep       Date:  2021-01-13       Impact factor: 4.379

6.  Natural history of pulmonary function in collagen VI-related myopathies.

Authors:  A Reghan Foley; Susana Quijano-Roy; James Collins; Volker Straub; Michelle McCallum; Nicolas Deconinck; Eugenio Mercuri; Marika Pane; Adele D'Amico; Enrico Bertini; Kathryn North; Monique M Ryan; Pascale Richard; Valérie Allamand; Debbie Hicks; Shireen Lamandé; Ying Hu; Francesca Gualandi; Sungyoung Auh; Francesco Muntoni; Carsten G Bönnemann
Journal:  Brain       Date:  2013-11-22       Impact factor: 13.501

7.  Dysregulation of matricellular proteins is an early signature of pathology in laminin-deficient muscular dystrophy.

Authors:  Thomas Mehuron; Ajay Kumar; Lina Duarte; Jenny Yamauchi; Anthony Accorsi; Mahasweta Girgenrath
Journal:  Skelet Muscle       Date:  2014-07-02       Impact factor: 4.912

8.  Diagnostic approach to the congenital muscular dystrophies.

Authors:  Carsten G Bönnemann; Ching H Wang; Susana Quijano-Roy; Nicolas Deconinck; Enrico Bertini; Ana Ferreiro; Francesco Muntoni; Caroline Sewry; Christophe Béroud; Katherine D Mathews; Steven A Moore; Jonathan Bellini; Anne Rutkowski; Kathryn N North
Journal:  Neuromuscul Disord       Date:  2014-01-09       Impact factor: 4.296

9.  Management of motor rehabilitation in individuals with muscular dystrophies. 1st Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Rome, January 25-26, 2019).

Authors:  Maria Elena Lombardo; Elena Carraro; Cristina Sancricca; Michela Armando; Michela Catteruccia; Elena Mazzone; Giulia Ricci; Ferdinando Salamino; Filippo Maria Santorelli; Massimiliano Filosto
Journal:  Acta Myol       Date:  2021-06-30
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.