Literature DB >> 14659414

117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands.

Carina Wallgren-Pettersson1, Kate Bushby, Uwe Mellies, Anita Simonds.   

Abstract

Entities:  

Mesh：

Year:  2004        PMID： 14659414     DOI： 10.1016/j.nmd.2003.09.003

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


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  26 in total

1.  Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

Authors:  Nigel G Laing; Danielle E Dye; Carina Wallgren-Pettersson; Gabriele Richard; Nicole Monnier; Suzanne Lillis; Thomas L Winder; Hanns Lochmüller; Claudio Graziano; Stella Mitrani-Rosenbaum; Darren Twomey; John C Sparrow; Alan H Beggs; Kristen J Nowak
Journal:  Hum Mutat       Date:  2009-09       Impact factor: 4.878

2.  Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia.

Authors:  S Ward; M Chatwin; S Heather; A K Simonds
Journal:  Thorax       Date:  2005-12       Impact factor: 9.139

Review 3.  The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.

Authors:  Carsten G Bönnemann
Journal:  Handb Clin Neurol       Date:  2011

4.  Consensus statement on standard of care for congenital myopathies.

Authors:  Ching H Wang; James J Dowling; Kathryn North; Mary K Schroth; Thomas Sejersen; Frederic Shapiro; Jonathan Bellini; Hali Weiss; Marc Guillet; Kimberly Amburgey; Susan Apkon; Enrico Bertini; Carsten Bonnemann; Nigel Clarke; Anne M Connolly; Brigitte Estournet-Mathiaud; Dominic Fitzgerald; Julaine M Florence; Richard Gee; Juliana Gurgel-Giannetti; Allan M Glanzman; Brittany Hofmeister; Heinz Jungbluth; Anastassios C Koumbourlis; Nigel G Laing; Marion Main; Leslie A Morrison; Craig Munns; Kristy Rose; Pamela M Schuler; Caroline Sewry; Kari Storhaug; Mariz Vainzof; Nanci Yuan
Journal:  J Child Neurol       Date:  2012-03       Impact factor: 1.987

Review 5.  Collagen VI related muscle disorders.

Authors:  A K Lampe; K M D Bushby
Journal:  J Med Genet       Date:  2005-09       Impact factor: 6.318

Review 6.  Respiratory involvement in inherited primary muscle conditions.

Authors:  N Shahrizaila; W J M Kinnear; A J Wills
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-10       Impact factor: 10.154

7.  Congenital myopathies: Natural history of a large pediatric cohort.

Authors:  Irene Colombo; Mariacristina Scoto; Adnan Y Manzur; Stephanie A Robb; Lorenzo Maggi; Vasantha Gowda; Thomas Cullup; Michael Yau; Rahul Phadke; Caroline Sewry; Heinz Jungbluth; Francesco Muntoni
Journal:  Neurology       Date:  2014-11-26       Impact factor: 9.910

8.  Carbon dioxide monitoring during long-term noninvasive respiratory support in children.

Authors:  Rebeca Paiva; Uros Krivec; Guillaume Aubertin; Emmanuelle Cohen; Annick Clément; Brigitte Fauroux
Journal:  Intensive Care Med       Date:  2009-01-27       Impact factor: 17.440

Review 9.  Congenital myotonic dystrophy: ventriculomegaly and shunt considerations for the pediatric neurosurgeon.

Authors:  Ian S Mutchnick; Meena A Thatikunta; William C Gump; Dan L Stewart; Thomas M Moriarty
Journal:  Childs Nerv Syst       Date:  2016-01-08       Impact factor: 1.475

10.  Clinical commentary: obstetric and respiratory management of pregnancy with severe spinal muscular atrophy.

Authors:  Daniel Flunt; Natasha Andreadis; Collette Menadue; Alec W Welsh
Journal:  Obstet Gynecol Int       Date:  2009-05-19
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