Etiology
Butterfield RJ
Continuum (Minneap Minn)
2019 Dec;25(6):1640-1661.
doi: 10.1212/CON.0000000000000792.
PMID: 31794464
Sewry CA,
Laitila JM,
Wallgren-Pettersson C
J Muscle Res Cell Motil
2019 Jun;40(2):111-126.
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Garibaldi M,
Rendu J,
Brocard J,
Lacene E,
Fauré J,
Brochier G,
Beuvin M,
Labasse C,
Madelaine A,
Malfatti E,
Bevilacqua JA,
Lubieniecki F,
Monges S,
Taratuto AL,
Laporte J,
Marty I,
Antonini G,
Romero NB
Acta Neuropathol Commun
2019 Jan 5;7(1):3.
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PMID: 30611313Free PMC Article
Ceyhan-Birsoy O,
Agrawal PB,
Hidalgo C,
Schmitz-Abe K,
DeChene ET,
Swanson LC,
Soemedi R,
Vasli N,
Iannaccone ST,
Shieh PB,
Shur N,
Dennison JM,
Lawlor MW,
Laporte J,
Markianos K,
Fairbrother WG,
Granzier H,
Beggs AH
Neurology
2013 Oct 1;81(14):1205-14.
Epub 2013 Aug 23
doi: 10.1212/WNL.0b013e3182a6ca62.
PMID: 23975875Free PMC Article
Amburgey K,
Bailey A,
Hwang JH,
Tarnopolsky MA,
Bonnemann CG,
Medne L,
Mathews KD,
Collins J,
Daube JR,
Wellman GP,
Callaghan B,
Clarke NF,
Dowling JJ
Orphanet J Rare Dis
2013 Aug 6;8:117.
doi: 10.1186/1750-1172-8-117.
PMID: 23919265Free PMC Article
Diagnosis
Younger DS
Handb Clin Neurol
2023;195:533-561.
doi: 10.1016/B978-0-323-98818-6.00027-3.
PMID: 37562885
Butterfield RJ
Continuum (Minneap Minn)
2019 Dec;25(6):1640-1661.
doi: 10.1212/CON.0000000000000792.
PMID: 31794464
Sewry CA,
Laitila JM,
Wallgren-Pettersson C
J Muscle Res Cell Motil
2019 Jun;40(2):111-126.
Epub 2019 Jun 21
doi: 10.1007/s10974-019-09519-9.
PMID: 31228046Free PMC Article
Ceyhan-Birsoy O,
Agrawal PB,
Hidalgo C,
Schmitz-Abe K,
DeChene ET,
Swanson LC,
Soemedi R,
Vasli N,
Iannaccone ST,
Shieh PB,
Shur N,
Dennison JM,
Lawlor MW,
Laporte J,
Markianos K,
Fairbrother WG,
Granzier H,
Beggs AH
Neurology
2013 Oct 1;81(14):1205-14.
Epub 2013 Aug 23
doi: 10.1212/WNL.0b013e3182a6ca62.
PMID: 23975875Free PMC Article
Robinson R,
Carpenter D,
Shaw MA,
Halsall J,
Hopkins P
Hum Mutat
2006 Oct;27(10):977-89.
doi: 10.1002/humu.20356.
PMID: 16917943
Therapy
Giraud Q,
Spiegelhalter C,
Messaddeq N,
Laporte J
Brain
2023 Oct 3;146(10):4158-4173.
doi: 10.1093/brain/awad251.
PMID: 37490306Free PMC Article
Bouman K,
Dittrich ATM,
Groothuis JT,
van Engelen BGM,
Janssen MCH,
Voermans NC,
Draaisma JMT,
Erasmus CE
J Neuromuscul Dis
2023;10(1):1-13.
doi: 10.3233/JND-221543.
PMID: 36314217Free PMC Article
Maani N,
Karolczak S,
Dowling JJ
Curr Opin Neurol
2021 Oct 1;34(5):727-737.
doi: 10.1097/WCO.0000000000000978.
PMID: 34267051
Adaikina A,
Hofman PL,
O'Grady GL,
Gusso S
Pediatr Neurol
2020 Mar;104:13-18.
Epub 2019 Nov 29
doi: 10.1016/j.pediatrneurol.2019.10.008.
PMID: 31926608
Brislin RP,
Theroux MC
Paediatr Anaesth
2013 Sep;23(9):834-41.
Epub 2013 Apr 25
doi: 10.1111/pan.12175.
PMID: 23617272
Prognosis
Younger DS
Handb Clin Neurol
2023;195:533-561.
doi: 10.1016/B978-0-323-98818-6.00027-3.
PMID: 37562885
Sewry CA,
Laitila JM,
Wallgren-Pettersson C
J Muscle Res Cell Motil
2019 Jun;40(2):111-126.
Epub 2019 Jun 21
doi: 10.1007/s10974-019-09519-9.
PMID: 31228046Free PMC Article
Ravenscroft G,
Bryson-Richardson RJ,
Nowak KJ,
Laing NG
F1000Res
2018;7
Epub 2018 Dec 11
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PMID: 30631434Free PMC Article
Cassandrini D,
Trovato R,
Rubegni A,
Lenzi S,
Fiorillo C,
Baldacci J,
Minetti C,
Astrea G,
Bruno C,
Santorelli FM;
Italian Network on Congenital Myopathies
Ital J Pediatr
2017 Nov 15;43(1):101.
doi: 10.1186/s13052-017-0419-z.
PMID: 29141652Free PMC Article
Amburgey K,
Bailey A,
Hwang JH,
Tarnopolsky MA,
Bonnemann CG,
Medne L,
Mathews KD,
Collins J,
Daube JR,
Wellman GP,
Callaghan B,
Clarke NF,
Dowling JJ
Orphanet J Rare Dis
2013 Aug 6;8:117.
doi: 10.1186/1750-1172-8-117.
PMID: 23919265Free PMC Article
Clinical prediction guides
Gurgel-Giannetti J,
Souza LS,
Yamamoto GL,
Belisario M,
Lazar M,
Campos W,
Pavanello RCM,
Zatz M,
Reed U,
Zanoteli E,
Oliveira AB,
Lehtokari VL,
Casella EB,
Machado-Costa MC,
Wallgren-Pettersson C,
Laing NG,
Nigro V,
Vainzof M
Int J Mol Sci
2022 Oct 9;23(19)
doi: 10.3390/ijms231911995.
PMID: 36233295Free PMC Article
Mroczek M,
Longman C,
Farrugia ME,
Kapetanovic Garcia S,
Ardicli D,
Topaloglu H,
Hernández-Laín A,
Orhan D,
Alikasifoglu M,
Duff J,
Specht S,
Nowak K,
Ravenscroft G,
Chao K,
Valivullah Z,
Donkervoort S,
Saade D,
Bönnemann C,
Straub V,
Yoon G
J Med Genet
2022 Nov;59(11):1069-1074.
Epub 2022 Apr 7
doi: 10.1136/jmedgenet-2021-108341.
PMID: 35393337Free PMC Article
Garibaldi M,
Rendu J,
Brocard J,
Lacene E,
Fauré J,
Brochier G,
Beuvin M,
Labasse C,
Madelaine A,
Malfatti E,
Bevilacqua JA,
Lubieniecki F,
Monges S,
Taratuto AL,
Laporte J,
Marty I,
Antonini G,
Romero NB
Acta Neuropathol Commun
2019 Jan 5;7(1):3.
doi: 10.1186/s40478-018-0655-5.
PMID: 30611313Free PMC Article
Ravenscroft G,
Bryson-Richardson RJ,
Nowak KJ,
Laing NG
F1000Res
2018;7
Epub 2018 Dec 11
doi: 10.12688/f1000research.16422.1.
PMID: 30631434Free PMC Article
Amburgey K,
Bailey A,
Hwang JH,
Tarnopolsky MA,
Bonnemann CG,
Medne L,
Mathews KD,
Collins J,
Daube JR,
Wellman GP,
Callaghan B,
Clarke NF,
Dowling JJ
Orphanet J Rare Dis
2013 Aug 6;8:117.
doi: 10.1186/1750-1172-8-117.
PMID: 23919265Free PMC Article