229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

•A consensus was reached on an updated definition of LGMD, and current sub-types were evaluated by application of the updated definition.•Consensus was reached on the most useful LGMD classification system that also allowed space for further discoveries of new sub-types.•Potential ramifications of t...

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Veröffentlicht in:Neuromuscular disorders : NMD Jg. 28; H. 8; S. 702 - 710
Hauptverfasser: Straub, Volker, Murphy, Alexander, Udd, Bjarne, Corrado, Angelini, Aymé, Ségolène, Bönneman, Carsten, de Visser, Marianne, Hamosh, Ada, Jacobs, Laura, Khizanishvili, Nina, Kroneman, Madelon, Laflorêt, Pascal, Murphy, Alex, Nigro, Vincenzo, Rufibach, Laura, Sarkozy, Anna, Swanepoel, Shaun, Torrente, Ivan, Urtizberea, Andoni, Vissing, John, Walter, Maggie
Format: Journal Article
Sprache:Englisch
Veröffentlicht: England Elsevier B.V 01.08.2018
ISSN:0960-8966, 1873-2364, 1873-2364
Online-Zugang:Volltext
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Abstract •A consensus was reached on an updated definition of LGMD, and current sub-types were evaluated by application of the updated definition.•Consensus was reached on the most useful LGMD classification system that also allowed space for further discoveries of new sub-types.•Potential ramifications of the new definition and classification of LGMD for patients were discussed and several action points around how to disseminate this proposal were identified.
AbstractList •A consensus was reached on an updated definition of LGMD, and current sub-types were evaluated by application of the updated definition.•Consensus was reached on the most useful LGMD classification system that also allowed space for further discoveries of new sub-types.•Potential ramifications of the new definition and classification of LGMD for patients were discussed and several action points around how to disseminate this proposal were identified.
Author Udd, Bjarne
Torrente, Ivan
Khizanishvili, Nina
Sarkozy, Anna
Bönneman, Carsten
Rufibach, Laura
Nigro, Vincenzo
Vissing, John
de Visser, Marianne
Murphy, Alexander
Laflorêt, Pascal
Straub, Volker
Aymé, Ségolène
Walter, Maggie
Kroneman, Madelon
Murphy, Alex
Urtizberea, Andoni
Hamosh, Ada
Corrado, Angelini
Jacobs, Laura
Swanepoel, Shaun
Author_xml – sequence: 1
  givenname: Volker
  orcidid: 0000-0001-9046-3540
  surname: Straub
  fullname: Straub, Volker
  email: volker.straub@newcastle.ac.uk, volker.straub@ncl.ac.uk
  organization: The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne, United Kingdom
– sequence: 2
  givenname: Alexander
  surname: Murphy
  fullname: Murphy, Alexander
  organization: The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne, United Kingdom
– sequence: 3
  givenname: Bjarne
  surname: Udd
  fullname: Udd, Bjarne
  organization: Department of Neurology, Neuromuscular Research Center, Tampere University and University Hospital, Neurology, Tampere, Finland
– sequence: 4
  givenname: Angelini
  surname: Corrado
  fullname: Corrado, Angelini
  organization: (Padua, Italy)
– sequence: 5
  givenname: Ségolène
  surname: Aymé
  fullname: Aymé, Ségolène
  organization: (Paris, France)
– sequence: 6
  givenname: Carsten
  surname: Bönneman
  fullname: Bönneman, Carsten
  organization: (Bethesda, USA)
– sequence: 7
  givenname: Marianne
  surname: de Visser
  fullname: de Visser, Marianne
  organization: (Amsterdam, Netherlands)
– sequence: 8
  givenname: Ada
  surname: Hamosh
  fullname: Hamosh, Ada
  organization: (Baltimore, USA)
– sequence: 9
  givenname: Laura
  surname: Jacobs
  fullname: Jacobs, Laura
  organization: (London, UK)
– sequence: 10
  givenname: Nina
  surname: Khizanishvili
  fullname: Khizanishvili, Nina
  organization: (Tblisi, Georgia)
– sequence: 11
  givenname: Madelon
  surname: Kroneman
  fullname: Kroneman, Madelon
  organization: (Spierziekten, Netherlands)
– sequence: 12
  givenname: Pascal
  surname: Laflorêt
  fullname: Laflorêt, Pascal
  organization: (Paris, France)
– sequence: 13
  givenname: Alex
  surname: Murphy
  fullname: Murphy, Alex
  organization: (Newcastle, UK)
– sequence: 14
  givenname: Vincenzo
  surname: Nigro
  fullname: Nigro, Vincenzo
  organization: (Naples, Italy)
– sequence: 15
  givenname: Laura
  surname: Rufibach
  fullname: Rufibach, Laura
  organization: (Seattle, USA)
– sequence: 16
  givenname: Anna
  surname: Sarkozy
  fullname: Sarkozy, Anna
  organization: (London, UK)
– sequence: 17
  givenname: Shaun
  surname: Swanepoel
  fullname: Swanepoel, Shaun
  organization: (High Wycombe, UK)
– sequence: 18
  givenname: Ivan
  surname: Torrente
  fullname: Torrente, Ivan
  organization: (Milan, Italy)
– sequence: 19
  givenname: Bjarne
  surname: Udd
  fullname: Udd, Bjarne
  organization: (Tampere, Finland)
– sequence: 20
  givenname: Andoni
  surname: Urtizberea
  fullname: Urtizberea, Andoni
  organization: (Hendaye, France)
– sequence: 21
  givenname: John
  surname: Vissing
  fullname: Vissing, John
  organization: (Copenhagen, Denmark)
– sequence: 22
  givenname: Maggie
  surname: Walter
  fullname: Walter, Maggie
  organization: (Munich, Germany)
BackLink https://www.ncbi.nlm.nih.gov/pubmed/30055862$$D View this record in MEDLINE/PubMed
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ContentType Journal Article
Contributor Torrente, Ivan
Udd, Bjarne
Khizanishvili, Nina
Sarkozy, Anna
Bönneman, Carsten
Rufibach, Laura
Nigro, Vincenzo
Vissing, John
de Visser, Marianne
Laflorêt, Pascal
Aymé, Ségolène
Walter, Maggie
Kroneman, Madelon
Murphy, Alex
Urtizberea, Andoni
Hamosh, Ada
Corrado, Angelini
Jacobs, Laura
Swanepoel, Shaun
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  surname: de Visser
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Title 229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017
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