Etiology
Specht S,
Straub V
Neuromuscul Disord
2021 Oct;31(10):988-997.
doi: 10.1016/j.nmd.2021.08.012.
PMID: 34736636
Tan D,
Ge L,
Fan Y,
Chang X,
Wang S,
Wei C,
Ding J,
Liu A,
Wang S,
Li X,
Gao K,
Yang H,
Que C,
Huang Z,
Li C,
Zhu Y,
Mao B,
Jin B,
Hua Y,
Zhang X,
Zhang B,
Zhu W,
Zhang C,
Wang Y,
Yuan Y,
Jiang Y,
Rutkowski A,
Bönnemann CG,
Wu X,
Xiong H
Orphanet J Rare Dis
2021 Jul 19;16(1):319.
doi: 10.1186/s13023-021-01950-x.
PMID: 34281576Free PMC Article
Warman Chardon J,
Díaz-Manera J,
Tasca G,
Bönnemann CG,
Gómez-Andrés D,
Heerschap A,
Mercuri E,
Muntoni F,
Pichiecchio A,
Ricci E,
Walter MC,
Hanna M,
Jungbluth H,
Morrow JM,
Fernández-Torrón R,
Udd B,
Vissing J,
Yousry T,
Quijano-Roy S,
Straub V,
Carlier RY;
MYO-MRI Working Group
Neuromuscul Disord
2019 Nov;29(11):827-841.
Epub 2019 Sep 16
doi: 10.1016/j.nmd.2019.08.011.
PMID: 31727541
Simonds AK
Eur Respir J Suppl
2003 Nov;47:38s-46s.
doi: 10.1183/09031936.03.00029803.
PMID: 14621116
Vainzof M,
Zatz M
Braz J Med Biol Res
2003 May;36(5):543-55.
Epub 2003 Apr 22
doi: 10.1590/s0100-879x2003000500001.
PMID: 12715073
Diagnosis
Specht S,
Straub V
Neuromuscul Disord
2021 Oct;31(10):988-997.
doi: 10.1016/j.nmd.2021.08.012.
PMID: 34736636
Warman Chardon J,
Díaz-Manera J,
Tasca G,
Bönnemann CG,
Gómez-Andrés D,
Heerschap A,
Mercuri E,
Muntoni F,
Pichiecchio A,
Ricci E,
Walter MC,
Hanna M,
Jungbluth H,
Morrow JM,
Fernández-Torrón R,
Udd B,
Vissing J,
Yousry T,
Quijano-Roy S,
Straub V,
Carlier RY;
MYO-MRI Working Group
Neuromuscul Disord
2019 Nov;29(11):827-841.
Epub 2019 Sep 16
doi: 10.1016/j.nmd.2019.08.011.
PMID: 31727541
Yonekawa T,
Nishino I
J Neurol Neurosurg Psychiatry
2015 Mar;86(3):280-7.
Epub 2014 Jun 17
doi: 10.1136/jnnp-2013-307052.
PMID: 24938411
Nadeau A,
Kinali M,
Main M,
Jimenez-Mallebrera C,
Aloysius A,
Clement E,
North B,
Manzur AY,
Robb SA,
Mercuri E,
Muntoni F
Neurology
2009 Jul 7;73(1):25-31.
doi: 10.1212/WNL.0b013e3181aae851.
PMID: 19564581
Vainzof M,
Zatz M
Braz J Med Biol Res
2003 May;36(5):543-55.
Epub 2003 Apr 22
doi: 10.1590/s0100-879x2003000500001.
PMID: 12715073
Therapy
Nakajima T,
Sankai Y,
Takata S,
Kobayashi Y,
Ando Y,
Nakagawa M,
Saito T,
Saito K,
Ishida C,
Tamaoka A,
Saotome T,
Ikai T,
Endo H,
Ishii K,
Morita M,
Maeno T,
Komai K,
Ikeda T,
Ishikawa Y,
Maeshima S,
Aoki M,
Ito M,
Mima T,
Miura T,
Matsuda J,
Kawaguchi Y,
Hayashi T,
Shingu M,
Kawamoto H
Orphanet J Rare Dis
2021 Jul 7;16(1):304.
doi: 10.1186/s13023-021-01928-9.
PMID: 34233722Free PMC Article
Simonds AK
Eur Respir J Suppl
2003 Nov;47:38s-46s.
doi: 10.1183/09031936.03.00029803.
PMID: 14621116
Prognosis
Kim SY,
Kim WJ,
Kim H,
Choi SA,
Lee JS,
Cho A,
Jang SS,
Lim BC,
Kim KJ,
Kim JI,
Hahn SH,
Chae JH
Muscle Nerve
2018 Sep;58(3):381-388.
doi: 10.1002/mus.26093.
PMID: 29406609
Nadeau A,
Kinali M,
Main M,
Jimenez-Mallebrera C,
Aloysius A,
Clement E,
North B,
Manzur AY,
Robb SA,
Mercuri E,
Muntoni F
Neurology
2009 Jul 7;73(1):25-31.
doi: 10.1212/WNL.0b013e3181aae851.
PMID: 19564581
Richardson M,
Frank AO
Disabil Rehabil Assist Technol
2009 May;4(3):181-8.
doi: 10.1080/17483100802543114.
PMID: 19199130
Simonds AK
Eur Respir J Suppl
2003 Nov;47:38s-46s.
doi: 10.1183/09031936.03.00029803.
PMID: 14621116
Vainzof M,
Zatz M
Braz J Med Biol Res
2003 May;36(5):543-55.
Epub 2003 Apr 22
doi: 10.1590/s0100-879x2003000500001.
PMID: 12715073
Clinical prediction guides
Nakajima T,
Sankai Y,
Takata S,
Kobayashi Y,
Ando Y,
Nakagawa M,
Saito T,
Saito K,
Ishida C,
Tamaoka A,
Saotome T,
Ikai T,
Endo H,
Ishii K,
Morita M,
Maeno T,
Komai K,
Ikeda T,
Ishikawa Y,
Maeshima S,
Aoki M,
Ito M,
Mima T,
Miura T,
Matsuda J,
Kawaguchi Y,
Hayashi T,
Shingu M,
Kawamoto H
Orphanet J Rare Dis
2021 Jul 7;16(1):304.
doi: 10.1186/s13023-021-01928-9.
PMID: 34233722Free PMC Article
Jelinkova S,
Sleiman Y,
Fojtík P,
Aimond F,
Finan A,
Hugon G,
Scheuermann V,
Beckerová D,
Cazorla O,
Vincenti M,
Amedro P,
Richard S,
Jaros J,
Dvorak P,
Lacampagne A,
Carnac G,
Rotrekl V,
Meli AC
Int J Mol Sci
2021 May 10;22(9)
doi: 10.3390/ijms22095025.
PMID: 34068508Free PMC Article
Kim SY,
Kim WJ,
Kim H,
Choi SA,
Lee JS,
Cho A,
Jang SS,
Lim BC,
Kim KJ,
Kim JI,
Hahn SH,
Chae JH
Muscle Nerve
2018 Sep;58(3):381-388.
doi: 10.1002/mus.26093.
PMID: 29406609
Lynch TA,
Lam le T,
Man Nt,
Kobayashi K,
Toda T,
Morris GE
Biochem Biophys Res Commun
2012 Jul 27;424(2):354-7.
Epub 2012 Jul 6
doi: 10.1016/j.bbrc.2012.06.147.
PMID: 22771323
Nadeau A,
Kinali M,
Main M,
Jimenez-Mallebrera C,
Aloysius A,
Clement E,
North B,
Manzur AY,
Robb SA,
Mercuri E,
Muntoni F
Neurology
2009 Jul 7;73(1):25-31.
doi: 10.1212/WNL.0b013e3181aae851.
PMID: 19564581