Etiology
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
Davison JE
J Mother Child
2020 Oct 2;24(2):3-8.
doi: 10.34763/jmotherandchild.20202402si.2001.000002.
PMID: 33554498Free PMC Article
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
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
Chiriboga CA
Expert Rev Neurother
2017 Oct;17(10):955-962.
Epub 2017 Sep 8
doi: 10.1080/14737175.2017.1364159.
PMID: 28884620
Diagnosis
Labella B,
Cotti Piccinelli S,
Risi B,
Caria F,
Damioli S,
Bertella E,
Poli L,
Padovani A,
Filosto M
Biomolecules
2023 Aug 22;13(9)
doi: 10.3390/biom13091279.
PMID: 37759679Free PMC Article
Davison JE
J Mother Child
2020 Oct 2;24(2):3-8.
doi: 10.34763/jmotherandchild.20202402si.2001.000002.
PMID: 33554498Free PMC Article
Bay LB,
Denzler I,
Durand C,
Eiroa H,
Frabasil J,
Fainboim A,
Maxit C,
Schenone A,
Spécola N
Arch Argent Pediatr
2019 Aug 1;117(4):271-278.
doi: 10.5546/aap.2019.eng.271.
PMID: 31339275
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
Franceschetti S,
Canafoglia L
Epileptic Disord
2016 Sep 1;18(S2):89-93.
doi: 10.1684/epd.2016.0845.
PMID: 27621198
Therapy
Labella B,
Cotti Piccinelli S,
Risi B,
Caria F,
Damioli S,
Bertella E,
Poli L,
Padovani A,
Filosto M
Biomolecules
2023 Aug 22;13(9)
doi: 10.3390/biom13091279.
PMID: 37759679Free PMC Article
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
Davison JE
J Mother Child
2020 Oct 2;24(2):3-8.
doi: 10.34763/jmotherandchild.20202402si.2001.000002.
PMID: 33554498Free PMC Article
Samanta D
Pediatr Neurol
2020 Feb;103:12-20.
Epub 2019 Nov 1
doi: 10.1016/j.pediatrneurol.2019.10.003.
PMID: 31836335
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
Prognosis
Bradbury AM,
Bongarzone ER,
Sands MS
Neurosci Lett
2021 May 1;752:135841.
Epub 2021 Mar 22
doi: 10.1016/j.neulet.2021.135841.
PMID: 33766733Free PMC Article
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
Bar C,
Kuchenbuch M,
Barcia G,
Schneider A,
Jennesson M,
Le Guyader G,
Lesca G,
Mignot C,
Montomoli M,
Parrini E,
Isnard H,
Rolland A,
Keren B,
Afenjar A,
Dorison N,
Sadleir LG,
Breuillard D,
Levy R,
Rio M,
Dupont S,
Negrin S,
Danieli A,
Scalais E,
De Saint Martin A,
El Chehadeh S,
Chelly J,
Poisson A,
Lebre AS,
Nica A,
Odent S,
Sekhara T,
Brankovic V,
Goldenberg A,
Vrielynck P,
Lederer D,
Maurey H,
Terrone G,
Besmond C,
Hubert L,
Berquin P,
Billette de Villemeur T,
Isidor B,
Freeman JL,
Mefford HC,
Myers CT,
Howell KB,
Rodríguez-Sacristán Cascajo A,
Meyer P,
Genevieve D,
Guët A,
Doummar D,
Durigneux J,
van Dooren MF,
de Wit MCY,
Gerard M,
Marey I,
Munnich A,
Guerrini R,
Scheffer IE,
Kabashi E,
Nabbout R
Epilepsia
2020 Nov;61(11):2461-2473.
Epub 2020 Sep 21
doi: 10.1111/epi.16679.
PMID: 32954514
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
Wolff M,
Johannesen KM,
Hedrich UBS,
Masnada S,
Rubboli G,
Gardella E,
Lesca G,
Ville D,
Milh M,
Villard L,
Afenjar A,
Chantot-Bastaraud S,
Mignot C,
Lardennois C,
Nava C,
Schwarz N,
Gérard M,
Perrin L,
Doummar D,
Auvin S,
Miranda MJ,
Hempel M,
Brilstra E,
Knoers N,
Verbeek N,
van Kempen M,
Braun KP,
Mancini G,
Biskup S,
Hörtnagel K,
Döcker M,
Bast T,
Loddenkemper T,
Wong-Kisiel L,
Baumeister FM,
Fazeli W,
Striano P,
Dilena R,
Fontana E,
Zara F,
Kurlemann G,
Klepper J,
Thoene JG,
Arndt DH,
Deconinck N,
Schmitt-Mechelke T,
Maier O,
Muhle H,
Wical B,
Finetti C,
Brückner R,
Pietz J,
Golla G,
Jillella D,
Linnet KM,
Charles P,
Moog U,
Õiglane-Shlik E,
Mantovani JF,
Park K,
Deprez M,
Lederer D,
Mary S,
Scalais E,
Selim L,
Van Coster R,
Lagae L,
Nikanorova M,
Hjalgrim H,
Korenke GC,
Trivisano M,
Specchio N,
Ceulemans B,
Dorn T,
Helbig KL,
Hardies K,
Stamberger H,
de Jonghe P,
Weckhuysen S,
Lemke JR,
Krägeloh-Mann I,
Helbig I,
Kluger G,
Lerche H,
Møller RS
Brain
2017 May 1;140(5):1316-1336.
doi: 10.1093/brain/awx054.
PMID: 28379373
Clinical prediction guides
Hong W,
Haviland I,
Pestana-Knight E,
Weisenberg JL,
Demarest S,
Marsh ED,
Olson HE
CNS Drugs
2022 Jun;36(6):591-604.
Epub 2022 May 28
doi: 10.1007/s40263-022-00921-5.
PMID: 35633486Free PMC Article
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
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
Chiriboga CA
Expert Rev Neurother
2017 Oct;17(10):955-962.
Epub 2017 Sep 8
doi: 10.1080/14737175.2017.1364159.
PMID: 28884620
Franceschetti S,
Canafoglia L
Epileptic Disord
2016 Sep 1;18(S2):89-93.
doi: 10.1684/epd.2016.0845.
PMID: 27621198