Etiology
Famili DT,
Mistry A,
Gerasimenko O,
Gerasimenko J,
Tribe RM,
Kyrana E,
Dhawan A,
Goldberg MF,
Voermans N,
Willis T,
Jungbluth H
Neuromuscul Disord
2023 Oct;33(10):769-775.
Epub 2023 Sep 16
doi: 10.1016/j.nmd.2023.09.003.
PMID: 37783627
Sarkozy A,
Sa M,
Ridout D,
Fernandez-Garcia MA,
Distefano MG,
Main M,
Sheehan J,
Manzur AY,
Munot P,
Robb S,
Wraige E,
Quinlivan R,
Scoto M,
Baranello G,
Gowda V,
Mein R,
Phadke R,
Jungbluth H,
Muntoni F
Neurology
2023 Oct 10;101(15):e1495-e1508.
Epub 2023 Aug 29
doi: 10.1212/WNL.0000000000207723.
PMID: 37643885Free PMC Article
Snoeck M,
van Engelen BG,
Küsters B,
Lammens M,
Meijer R,
Molenaar JP,
Raaphorst J,
Verschuuren-Bemelmans CC,
Straathof CS,
Sie LT,
de Coo IF,
van der Pol WL,
de Visser M,
Scheffer H,
Treves S,
Jungbluth H,
Voermans NC,
Kamsteeg EJ
Eur J Neurol
2015 Jul;22(7):1094-112.
Epub 2015 May 11
doi: 10.1111/ene.12713.
PMID: 25960145
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
Jungbluth H
Orphanet J Rare Dis
2007 Jul 13;2:31.
doi: 10.1186/1750-1172-2-31.
PMID: 17631035Free PMC Article
Diagnosis
Famili DT,
Mistry A,
Gerasimenko O,
Gerasimenko J,
Tribe RM,
Kyrana E,
Dhawan A,
Goldberg MF,
Voermans N,
Willis T,
Jungbluth H
Neuromuscul Disord
2023 Oct;33(10):769-775.
Epub 2023 Sep 16
doi: 10.1016/j.nmd.2023.09.003.
PMID: 37783627
Fusto A,
Cassandrini D,
Fiorillo C,
Codemo V,
Astrea G,
D'Amico A,
Maggi L,
Magri F,
Pane M,
Tasca G,
Sabbatini D,
Bello L,
Battini R,
Bernasconi P,
Fattori F,
Bertini ES,
Comi G,
Messina S,
Mongini T,
Moroni I,
Panicucci C,
Berardinelli A,
Donati A,
Nigro V,
Pini A,
Giannotta M,
Dosi C,
Ricci E,
Mercuri E,
Minervini G,
Tosatto S,
Santorelli F,
Bruno C,
Pegoraro E
Acta Neuropathol Commun
2022 Apr 15;10(1):54.
doi: 10.1186/s40478-022-01357-0.
PMID: 35428369Free PMC Article
Ogasawara M,
Nishino I
Neuromuscul Disord
2021 Oct;31(10):968-977.
Epub 2021 Sep 17
doi: 10.1016/j.nmd.2021.08.015.
PMID: 34627702
Riazi S,
Kraeva N,
Hopkins PM
Anesthesiology
2018 Jan;128(1):168-180.
doi: 10.1097/ALN.0000000000001878.
PMID: 28902675Free PMC Article
Jungbluth H
Orphanet J Rare Dis
2007 Jul 13;2:31.
doi: 10.1186/1750-1172-2-31.
PMID: 17631035Free PMC Article
Therapy
van den Bersselaar LR,
Kruijt N,
Scheffer GJ,
van Eijk L,
Malagon I,
Buckens S,
Custers JA,
Helder L,
Greco A,
Joosten LA,
van Engelen BG,
van Alfen N,
Riazi S,
Treves S,
Jungbluth H,
Snoeck MM,
Voermans NC
Medicine (Baltimore)
2021 Aug 20;100(33):e26999.
doi: 10.1097/MD.0000000000026999.
PMID: 34414986Free PMC Article
Kushnir A,
Todd JJ,
Witherspoon JW,
Yuan Q,
Reiken S,
Lin H,
Munce RH,
Wajsberg B,
Melville Z,
Clarke OB,
Wedderburn-Pugh K,
Wronska A,
Razaqyar MS,
Chrismer IC,
Shelton MO,
Mankodi A,
Grunseich C,
Tarnopolsky MA,
Tanji K,
Hirano M,
Riazi S,
Kraeva N,
Voermans NC,
Gruber A,
Allen C,
Meilleur KG,
Marks AR
Acta Neuropathol
2020 Jun;139(6):1089-1104.
Epub 2020 Mar 31
doi: 10.1007/s00401-020-02150-w.
PMID: 32236737Free PMC Article
Todd JJ,
Lawal TA,
Witherspoon JW,
Chrismer IC,
Razaqyar MS,
Punjabi M,
Elliott JS,
Tounkara F,
Kuo A,
Shelton MO,
Allen C,
Cosgrove MM,
Linton M,
Michael D,
Jain MS,
Waite M,
Drinkard B,
Wakim PG,
Dowling JJ,
Bönnemann CG,
Emile-Backer M,
Meilleur KG
Neurology
2020 Mar 31;94(13):e1434-e1444.
Epub 2020 Jan 15
doi: 10.1212/WNL.0000000000008872.
PMID: 31941795Free PMC Article
Todd JJ,
Sagar V,
Lawal TA,
Allen C,
Razaqyar MS,
Shelton MS,
Chrismer IC,
Zhang X,
Cosgrove MM,
Kuo A,
Vasavada R,
Jain MS,
Waite M,
Rajapakse D,
Witherspoon JW,
Wistow G,
Meilleur KG
J Neurol
2018 Nov;265(11):2506-2524.
Epub 2018 Aug 28
doi: 10.1007/s00415-018-9033-2.
PMID: 30155738Free PMC Article
Riazi S,
Kraeva N,
Hopkins PM
Anesthesiology
2018 Jan;128(1):168-180.
doi: 10.1097/ALN.0000000000001878.
PMID: 28902675Free PMC Article
Prognosis
Sarkozy A,
Sa M,
Ridout D,
Fernandez-Garcia MA,
Distefano MG,
Main M,
Sheehan J,
Manzur AY,
Munot P,
Robb S,
Wraige E,
Quinlivan R,
Scoto M,
Baranello G,
Gowda V,
Mein R,
Phadke R,
Jungbluth H,
Muntoni F
Neurology
2023 Oct 10;101(15):e1495-e1508.
Epub 2023 Aug 29
doi: 10.1212/WNL.0000000000207723.
PMID: 37643885Free PMC Article
Fusto A,
Cassandrini D,
Fiorillo C,
Codemo V,
Astrea G,
D'Amico A,
Maggi L,
Magri F,
Pane M,
Tasca G,
Sabbatini D,
Bello L,
Battini R,
Bernasconi P,
Fattori F,
Bertini ES,
Comi G,
Messina S,
Mongini T,
Moroni I,
Panicucci C,
Berardinelli A,
Donati A,
Nigro V,
Pini A,
Giannotta M,
Dosi C,
Ricci E,
Mercuri E,
Minervini G,
Tosatto S,
Santorelli F,
Bruno C,
Pegoraro E
Acta Neuropathol Commun
2022 Apr 15;10(1):54.
doi: 10.1186/s40478-022-01357-0.
PMID: 35428369Free PMC Article
Kushnir A,
Todd JJ,
Witherspoon JW,
Yuan Q,
Reiken S,
Lin H,
Munce RH,
Wajsberg B,
Melville Z,
Clarke OB,
Wedderburn-Pugh K,
Wronska A,
Razaqyar MS,
Chrismer IC,
Shelton MO,
Mankodi A,
Grunseich C,
Tarnopolsky MA,
Tanji K,
Hirano M,
Riazi S,
Kraeva N,
Voermans NC,
Gruber A,
Allen C,
Meilleur KG,
Marks AR
Acta Neuropathol
2020 Jun;139(6):1089-1104.
Epub 2020 Mar 31
doi: 10.1007/s00401-020-02150-w.
PMID: 32236737Free 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
Jungbluth H
Orphanet J Rare Dis
2007 Jul 13;2:31.
doi: 10.1186/1750-1172-2-31.
PMID: 17631035Free PMC Article
Clinical prediction guides
Vidal J,
Fernandez EA,
Wohlwend M,
Laurila PP,
Lopez-Mejia A,
Ochala J,
Lobrinus AJ,
Kayser B,
Lopez-Mejia IC,
Place N,
Zanou N
J Cachexia Sarcopenia Muscle
2023 Dec;14(6):2882-2897.
Epub 2023 Nov 15
doi: 10.1002/jcsm.13349.
PMID: 37964752Free PMC Article
Famili DT,
Mistry A,
Gerasimenko O,
Gerasimenko J,
Tribe RM,
Kyrana E,
Dhawan A,
Goldberg MF,
Voermans N,
Willis T,
Jungbluth H
Neuromuscul Disord
2023 Oct;33(10):769-775.
Epub 2023 Sep 16
doi: 10.1016/j.nmd.2023.09.003.
PMID: 37783627
Fusto A,
Cassandrini D,
Fiorillo C,
Codemo V,
Astrea G,
D'Amico A,
Maggi L,
Magri F,
Pane M,
Tasca G,
Sabbatini D,
Bello L,
Battini R,
Bernasconi P,
Fattori F,
Bertini ES,
Comi G,
Messina S,
Mongini T,
Moroni I,
Panicucci C,
Berardinelli A,
Donati A,
Nigro V,
Pini A,
Giannotta M,
Dosi C,
Ricci E,
Mercuri E,
Minervini G,
Tosatto S,
Santorelli F,
Bruno C,
Pegoraro E
Acta Neuropathol Commun
2022 Apr 15;10(1):54.
doi: 10.1186/s40478-022-01357-0.
PMID: 35428369Free PMC Article
Kushnir A,
Todd JJ,
Witherspoon JW,
Yuan Q,
Reiken S,
Lin H,
Munce RH,
Wajsberg B,
Melville Z,
Clarke OB,
Wedderburn-Pugh K,
Wronska A,
Razaqyar MS,
Chrismer IC,
Shelton MO,
Mankodi A,
Grunseich C,
Tarnopolsky MA,
Tanji K,
Hirano M,
Riazi S,
Kraeva N,
Voermans NC,
Gruber A,
Allen C,
Meilleur KG,
Marks AR
Acta Neuropathol
2020 Jun;139(6):1089-1104.
Epub 2020 Mar 31
doi: 10.1007/s00401-020-02150-w.
PMID: 32236737Free 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