Etiology
Karaa A,
Bertini E,
Carelli V,
Cohen BH,
Enns GM,
Falk MJ,
Goldstein A,
Gorman GS,
Haas R,
Hirano M,
Klopstock T,
Koenig MK,
Kornblum C,
Lamperti C,
Lehman A,
Longo N,
Molnar MJ,
Parikh S,
Phan H,
Pitceathly RDS,
Saneto R,
Scaglia F,
Servidei S,
Tarnopolsky M,
Toscano A,
Van Hove JLK,
Vissing J,
Vockley J,
Finman JS,
Brown DA,
Shiffer JA,
Mancuso M;
MMPOWER-3 Trial Investigators
Neurology
2023 Jul 18;101(3):e238-e252.
Epub 2023 Jun 2
doi: 10.1212/WNL.0000000000207402.
PMID: 37268435Free PMC Article
Jones K,
Hawke F,
Newman J,
Miller JA,
Burns J,
Jakovljevic DG,
Gorman G,
Turnbull DM,
Ramdharry G
Cochrane Database Syst Rev
2021 May 24;5(5):CD013544.
doi: 10.1002/14651858.CD013544.pub2.
PMID: 34027632Free PMC Article
Veenhuizen Y,
Cup EHC,
Jonker MA,
Voet NBM,
van Keulen BJ,
Maas DM,
Heeren A,
Groothuis JT,
van Engelen BGM,
Geurts ACH
Neurology
2019 Oct 29;93(18):e1720-e1731.
Epub 2019 Sep 30
doi: 10.1212/WNL.0000000000008393.
PMID: 31570565
Voet NB,
van der Kooi EL,
Riphagen II,
Lindeman E,
van Engelen BG,
Geurts AC
Cochrane Database Syst Rev
2013 Jul 9;(7):CD003907.
doi: 10.1002/14651858.CD003907.pub4.
PMID: 23835682
Voet NB,
van der Kooi EL,
Riphagen II,
Lindeman E,
van Engelen BG,
Geurts ACh
Cochrane Database Syst Rev
2010 Jan 20;(1):CD003907.
doi: 10.1002/14651858.CD003907.pub3.
PMID: 20091552
Diagnosis
Keene KR,
Notting IC,
Verschuuren JJGM,
Voermans N,
de Keizer ROB,
Beenakker JM,
Tannemaat MR,
Kan HE
J Neuromuscul Dis
2023;10(5):869-883.
doi: 10.3233/JND-230023.
PMID: 37182896Free PMC Article
Pagnamenta AT,
Kaiyrzhanov R,
Zou Y,
Da'as SI,
Maroofian R,
Donkervoort S,
Dominik N,
Lauffer M,
Ferla MP,
Orioli A,
Giess A,
Tucci A,
Beetz C,
Sedghi M,
Ansari B,
Barresi R,
Basiri K,
Cortese A,
Elgar G,
Fernandez-Garcia MA,
Yip J,
Foley AR,
Gutowski N,
Jungbluth H,
Lassche S,
Lavin T,
Marcelis C,
Marks P,
Marini-Bettolo C,
Medne L,
Moslemi AR,
Sarkozy A,
Reilly MM,
Muntoni F,
Millan F,
Muraresku CC,
Need AC,
Nemeth AH,
Neuhaus SB,
Norwood F,
O'Donnell M,
O'Driscoll M,
Rankin J,
Yum SW,
Zolkipli-Cunningham Z,
Brusius I,
Wunderlich G;
Genomics England Research Consortium,
Karakaya M,
Wirth B,
Fakhro KA,
Tajsharghi H,
Bönnemann CG,
Taylor JC,
Houlden H
Brain
2021 Mar 3;144(2):584-600.
doi: 10.1093/brain/awaa420.
PMID: 33559681Free PMC Article
Veenhuizen Y,
Cup EHC,
Jonker MA,
Voet NBM,
van Keulen BJ,
Maas DM,
Heeren A,
Groothuis JT,
van Engelen BGM,
Geurts ACH
Neurology
2019 Oct 29;93(18):e1720-e1731.
Epub 2019 Sep 30
doi: 10.1212/WNL.0000000000008393.
PMID: 31570565
Yadak R,
Breur M,
Bugiani M
Orphanet J Rare Dis
2019 Feb 8;14(1):33.
doi: 10.1186/s13023-019-1016-6.
PMID: 30736844Free PMC Article
Voet NB,
van der Kooi EL,
Riphagen II,
Lindeman E,
van Engelen BG,
Geurts AC
Cochrane Database Syst Rev
2013 Jul 9;(7):CD003907.
doi: 10.1002/14651858.CD003907.pub4.
PMID: 23835682
Therapy
Georgiou-Karistianis N,
Corben LA,
Reetz K,
Adanyeguh IM,
Corti M,
Deelchand DK,
Delatycki MB,
Dogan I,
Evans R,
Farmer J,
França MC,
Gaetz W,
Harding IH,
Harris KS,
Hersch S,
Joules R,
Joers JJ,
Krishnan ML,
Lax M,
Lock EF,
Lynch D,
Mareci T,
Muthuhetti Gamage S,
Pandolfo M,
Papoutsi M,
Rezende TJR,
Roberts TPL,
Rosenberg JT,
Romanzetti S,
Schulz JB,
Schilling T,
Schwarz AJ,
Subramony S,
Yao B,
Zicha S,
Lenglet C,
Henry PG
PLoS One
2022;17(11):e0269649.
Epub 2022 Nov 21
doi: 10.1371/journal.pone.0269649.
PMID: 36410013Free PMC Article
Jones K,
Hawke F,
Newman J,
Miller JA,
Burns J,
Jakovljevic DG,
Gorman G,
Turnbull DM,
Ramdharry G
Cochrane Database Syst Rev
2021 May 24;5(5):CD013544.
doi: 10.1002/14651858.CD013544.pub2.
PMID: 34027632Free PMC Article
Veenhuizen Y,
Cup EHC,
Jonker MA,
Voet NBM,
van Keulen BJ,
Maas DM,
Heeren A,
Groothuis JT,
van Engelen BGM,
Geurts ACH
Neurology
2019 Oct 29;93(18):e1720-e1731.
Epub 2019 Sep 30
doi: 10.1212/WNL.0000000000008393.
PMID: 31570565
Voet NB,
van der Kooi EL,
Riphagen II,
Lindeman E,
van Engelen BG,
Geurts AC
Cochrane Database Syst Rev
2013 Jul 9;(7):CD003907.
doi: 10.1002/14651858.CD003907.pub4.
PMID: 23835682
Voet NB,
van der Kooi EL,
Riphagen II,
Lindeman E,
van Engelen BG,
Geurts ACh
Cochrane Database Syst Rev
2010 Jan 20;(1):CD003907.
doi: 10.1002/14651858.CD003907.pub3.
PMID: 20091552
Prognosis
Zaidman I,
Elhasid R,
Gefen A,
Yahav Dovrat A,
Mutaz S,
Shaoul R,
Eshach Adiv O,
Mandel H,
Tal G
Pediatr Blood Cancer
2021 May;68(5):e28926.
Epub 2021 Feb 3
doi: 10.1002/pbc.28926.
PMID: 33533561
Wang HF,
Wang J,
Wang YL,
Fan JJ,
Mo GL,
Gong FY,
Chai ZM,
Zhang J,
Meng HX,
Li CX,
Guo JH,
Pu CQ
Acta Neurol Belg
2017 Mar;117(1):259-267.
Epub 2016 Oct 5
doi: 10.1007/s13760-016-0701-7.
PMID: 27709505
Clinical prediction guides
Karaa A,
Bertini E,
Carelli V,
Cohen BH,
Enns GM,
Falk MJ,
Goldstein A,
Gorman GS,
Haas R,
Hirano M,
Klopstock T,
Koenig MK,
Kornblum C,
Lamperti C,
Lehman A,
Longo N,
Molnar MJ,
Parikh S,
Phan H,
Pitceathly RDS,
Saneto R,
Scaglia F,
Servidei S,
Tarnopolsky M,
Toscano A,
Van Hove JLK,
Vissing J,
Vockley J,
Finman JS,
Brown DA,
Shiffer JA,
Mancuso M;
MMPOWER-3 Trial Investigators
Neurology
2023 Jul 18;101(3):e238-e252.
Epub 2023 Jun 2
doi: 10.1212/WNL.0000000000207402.
PMID: 37268435Free PMC Article
Keene KR,
Notting IC,
Verschuuren JJGM,
Voermans N,
de Keizer ROB,
Beenakker JM,
Tannemaat MR,
Kan HE
J Neuromuscul Dis
2023;10(5):869-883.
doi: 10.3233/JND-230023.
PMID: 37182896Free PMC Article
Georgiou-Karistianis N,
Corben LA,
Reetz K,
Adanyeguh IM,
Corti M,
Deelchand DK,
Delatycki MB,
Dogan I,
Evans R,
Farmer J,
França MC,
Gaetz W,
Harding IH,
Harris KS,
Hersch S,
Joules R,
Joers JJ,
Krishnan ML,
Lax M,
Lock EF,
Lynch D,
Mareci T,
Muthuhetti Gamage S,
Pandolfo M,
Papoutsi M,
Rezende TJR,
Roberts TPL,
Rosenberg JT,
Romanzetti S,
Schulz JB,
Schilling T,
Schwarz AJ,
Subramony S,
Yao B,
Zicha S,
Lenglet C,
Henry PG
PLoS One
2022;17(11):e0269649.
Epub 2022 Nov 21
doi: 10.1371/journal.pone.0269649.
PMID: 36410013Free PMC Article
Jones K,
Hawke F,
Newman J,
Miller JA,
Burns J,
Jakovljevic DG,
Gorman G,
Turnbull DM,
Ramdharry G
Cochrane Database Syst Rev
2021 May 24;5(5):CD013544.
doi: 10.1002/14651858.CD013544.pub2.
PMID: 34027632Free PMC Article
Eramo MJ,
Lisnyak V,
Formosa LE,
Ryan MT
J Biochem
2020 Mar 1;167(3):243-255.
doi: 10.1093/jb/mvz111.
PMID: 31825482