Etiology
Erdos J,
Wild C
Eur J Paediatr Neurol
2022 Jul;39:1-10.
Epub 2022 Apr 30
doi: 10.1016/j.ejpn.2022.04.006.
PMID: 35533607
Coratti G,
Cutrona C,
Pera MC,
Bovis F,
Ponzano M,
Chieppa F,
Antonaci L,
Sansone V,
Finkel R,
Pane M,
Mercuri E
Orphanet J Rare Dis
2021 Oct 13;16(1):430.
doi: 10.1186/s13023-021-02065-z.
PMID: 34645478Free PMC Article
Mercuri E,
Finkel RS,
Muntoni F,
Wirth B,
Montes J,
Main M,
Mazzone ES,
Vitale M,
Snyder B,
Quijano-Roy S,
Bertini E,
Davis RH,
Meyer OH,
Simonds AK,
Schroth MK,
Graham RJ,
Kirschner J,
Iannaccone ST,
Crawford TO,
Woods S,
Qian Y,
Sejersen T;
SMA Care Group
Neuromuscul Disord
2018 Feb;28(2):103-115.
Epub 2017 Nov 23
doi: 10.1016/j.nmd.2017.11.005.
PMID: 29290580
Finkel RS,
Mercuri E,
Darras BT,
Connolly AM,
Kuntz NL,
Kirschner J,
Chiriboga CA,
Saito K,
Servais L,
Tizzano E,
Topaloglu H,
Tulinius M,
Montes J,
Glanzman AM,
Bishop K,
Zhong ZJ,
Gheuens S,
Bennett CF,
Schneider E,
Farwell W,
De Vivo DC;
ENDEAR Study Group
N Engl J Med
2017 Nov 2;377(18):1723-1732.
doi: 10.1056/NEJMoa1702752.
PMID: 29091570
Mendell JR,
Al-Zaidy S,
Shell R,
Arnold WD,
Rodino-Klapac LR,
Prior TW,
Lowes L,
Alfano L,
Berry K,
Church K,
Kissel JT,
Nagendran S,
L'Italien J,
Sproule DM,
Wells C,
Cardenas JA,
Heitzer MD,
Kaspar A,
Corcoran S,
Braun L,
Likhite S,
Miranda C,
Meyer K,
Foust KD,
Burghes AHM,
Kaspar BK
N Engl J Med
2017 Nov 2;377(18):1713-1722.
doi: 10.1056/NEJMoa1706198.
PMID: 29091557
Diagnosis
Fauroux B,
Griffon L,
Amaddeo A,
Stremler N,
Mazenq J,
Khirani S,
Baravalle-Einaudi M
Arch Pediatr
2020 Dec;27(7S):7S29-7S34.
doi: 10.1016/S0929-693X(20)30274-8.
PMID: 33357594
Mercuri E,
Finkel RS,
Muntoni F,
Wirth B,
Montes J,
Main M,
Mazzone ES,
Vitale M,
Snyder B,
Quijano-Roy S,
Bertini E,
Davis RH,
Meyer OH,
Simonds AK,
Schroth MK,
Graham RJ,
Kirschner J,
Iannaccone ST,
Crawford TO,
Woods S,
Qian Y,
Sejersen T;
SMA Care Group
Neuromuscul Disord
2018 Feb;28(2):103-115.
Epub 2017 Nov 23
doi: 10.1016/j.nmd.2017.11.005.
PMID: 29290580
Kolb SJ,
Coffey CS,
Yankey JW,
Krosschell K,
Arnold WD,
Rutkove SB,
Swoboda KJ,
Reyna SP,
Sakonju A,
Darras BT,
Shell R,
Kuntz N,
Castro D,
Parsons J,
Connolly AM,
Chiriboga CA,
McDonald C,
Burnette WB,
Werner K,
Thangarajh M,
Shieh PB,
Finanger E,
Cudkowicz ME,
McGovern MM,
McNeil DE,
Finkel R,
Iannaccone ST,
Kaye E,
Kingsley A,
Renusch SR,
McGovern VL,
Wang X,
Zaworski PG,
Prior TW,
Burghes AHM,
Bartlett A,
Kissel JT;
NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators
Ann Neurol
2017 Dec;82(6):883-891.
Epub 2017 Dec 8
doi: 10.1002/ana.25101.
PMID: 29149772Free PMC Article
Huang YL,
Chen CJ
Neuroimaging Clin N Am
2011 Nov;21(4):939-50, ix-x.
doi: 10.1016/j.nic.2011.07.009.
PMID: 22032508
Lunn MR,
Wang CH
Lancet
2008 Jun 21;371(9630):2120-33.
doi: 10.1016/S0140-6736(08)60921-6.
PMID: 18572081
Therapy
Oskoui M,
Day JW,
Deconinck N,
Mazzone ES,
Nascimento A,
Saito K,
Vuillerot C,
Baranello G,
Goemans N,
Kirschner J,
Kostera-Pruszczyk A,
Servais L,
Papp G,
Gorni K,
Kletzl H,
Martin C,
McIver T,
Scalco RS,
Staunton H,
Yeung WY,
Fontoura P,
Mercuri E;
SUNFISH Working Group
J Neurol
2023 May;270(5):2531-2546.
Epub 2023 Feb 3
doi: 10.1007/s00415-023-11560-1.
PMID: 36735057Free PMC Article
Mercuri E,
Darras BT,
Chiriboga CA,
Day JW,
Campbell C,
Connolly AM,
Iannaccone ST,
Kirschner J,
Kuntz NL,
Saito K,
Shieh PB,
Tulinius M,
Mazzone ES,
Montes J,
Bishop KM,
Yang Q,
Foster R,
Gheuens S,
Bennett CF,
Farwell W,
Schneider E,
De Vivo DC,
Finkel RS;
CHERISH Study Group
N Engl J Med
2018 Feb 15;378(7):625-635.
doi: 10.1056/NEJMoa1710504.
PMID: 29443664
Finkel RS,
Mercuri E,
Darras BT,
Connolly AM,
Kuntz NL,
Kirschner J,
Chiriboga CA,
Saito K,
Servais L,
Tizzano E,
Topaloglu H,
Tulinius M,
Montes J,
Glanzman AM,
Bishop K,
Zhong ZJ,
Gheuens S,
Bennett CF,
Schneider E,
Farwell W,
De Vivo DC;
ENDEAR Study Group
N Engl J Med
2017 Nov 2;377(18):1723-1732.
doi: 10.1056/NEJMoa1702752.
PMID: 29091570
Mendell JR,
Al-Zaidy S,
Shell R,
Arnold WD,
Rodino-Klapac LR,
Prior TW,
Lowes L,
Alfano L,
Berry K,
Church K,
Kissel JT,
Nagendran S,
L'Italien J,
Sproule DM,
Wells C,
Cardenas JA,
Heitzer MD,
Kaspar A,
Corcoran S,
Braun L,
Likhite S,
Miranda C,
Meyer K,
Foust KD,
Burghes AHM,
Kaspar BK
N Engl J Med
2017 Nov 2;377(18):1713-1722.
doi: 10.1056/NEJMoa1706198.
PMID: 29091557
Lunn MR,
Wang CH
Lancet
2008 Jun 21;371(9630):2120-33.
doi: 10.1016/S0140-6736(08)60921-6.
PMID: 18572081
Prognosis
Erdos J,
Wild C
Eur J Paediatr Neurol
2022 Jul;39:1-10.
Epub 2022 Apr 30
doi: 10.1016/j.ejpn.2022.04.006.
PMID: 35533607
Day JW,
Finkel RS,
Chiriboga CA,
Connolly AM,
Crawford TO,
Darras BT,
Iannaccone ST,
Kuntz NL,
Peña LDM,
Shieh PB,
Smith EC,
Kwon JM,
Zaidman CM,
Schultz M,
Feltner DE,
Tauscher-Wisniewski S,
Ouyang H,
Chand DH,
Sproule DM,
Macek TA,
Mendell JR
Lancet Neurol
2021 Apr;20(4):284-293.
Epub 2021 Mar 17
doi: 10.1016/S1474-4422(21)00001-6.
PMID: 33743238
Fauroux B,
Griffon L,
Amaddeo A,
Stremler N,
Mazenq J,
Khirani S,
Baravalle-Einaudi M
Arch Pediatr
2020 Dec;27(7S):7S29-7S34.
doi: 10.1016/S0929-693X(20)30274-8.
PMID: 33357594
Kolb SJ,
Coffey CS,
Yankey JW,
Krosschell K,
Arnold WD,
Rutkove SB,
Swoboda KJ,
Reyna SP,
Sakonju A,
Darras BT,
Shell R,
Kuntz N,
Castro D,
Parsons J,
Connolly AM,
Chiriboga CA,
McDonald C,
Burnette WB,
Werner K,
Thangarajh M,
Shieh PB,
Finanger E,
Cudkowicz ME,
McGovern MM,
McNeil DE,
Finkel R,
Iannaccone ST,
Kaye E,
Kingsley A,
Renusch SR,
McGovern VL,
Wang X,
Zaworski PG,
Prior TW,
Burghes AHM,
Bartlett A,
Kissel JT;
NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators
Ann Neurol
2017 Dec;82(6):883-891.
Epub 2017 Dec 8
doi: 10.1002/ana.25101.
PMID: 29149772Free PMC Article
Huang YL,
Chen CJ
Neuroimaging Clin N Am
2011 Nov;21(4):939-50, ix-x.
doi: 10.1016/j.nic.2011.07.009.
PMID: 22032508
Clinical prediction guides
Erdos J,
Wild C
Eur J Paediatr Neurol
2022 Jul;39:1-10.
Epub 2022 Apr 30
doi: 10.1016/j.ejpn.2022.04.006.
PMID: 35533607
Coratti G,
Cutrona C,
Pera MC,
Bovis F,
Ponzano M,
Chieppa F,
Antonaci L,
Sansone V,
Finkel R,
Pane M,
Mercuri E
Orphanet J Rare Dis
2021 Oct 13;16(1):430.
doi: 10.1186/s13023-021-02065-z.
PMID: 34645478Free PMC Article
Fauroux B,
Griffon L,
Amaddeo A,
Stremler N,
Mazenq J,
Khirani S,
Baravalle-Einaudi M
Arch Pediatr
2020 Dec;27(7S):7S29-7S34.
doi: 10.1016/S0929-693X(20)30274-8.
PMID: 33357594
Mendell JR,
Al-Zaidy S,
Shell R,
Arnold WD,
Rodino-Klapac LR,
Prior TW,
Lowes L,
Alfano L,
Berry K,
Church K,
Kissel JT,
Nagendran S,
L'Italien J,
Sproule DM,
Wells C,
Cardenas JA,
Heitzer MD,
Kaspar A,
Corcoran S,
Braun L,
Likhite S,
Miranda C,
Meyer K,
Foust KD,
Burghes AHM,
Kaspar BK
N Engl J Med
2017 Nov 2;377(18):1713-1722.
doi: 10.1056/NEJMoa1706198.
PMID: 29091557
Huang YL,
Chen CJ
Neuroimaging Clin N Am
2011 Nov;21(4):939-50, ix-x.
doi: 10.1016/j.nic.2011.07.009.
PMID: 22032508