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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Vydáno v:	Neuromuscular disorders : NMD Ročník 28; číslo 8; s. 702 - 710
Hlavní autoři:	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
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	England Elsevier B.V 01.08.2018
ISSN:	0960-8966, 1873-2364, 1873-2364
On-line přístup:	Získat plný text
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!

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
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BackLink	https://www.ncbi.nlm.nih.gov/pubmed/30055862$$D View this record in MEDLINE/PubMed
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Copyright	2018
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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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