Etiology
Bharucha-Goebel DX,
Norato G,
Saade D,
Paredes E,
Biancavilla V,
Donkervoort S,
Kaur R,
Lehky T,
Fink M,
Armao D,
Gray SJ,
Waite M,
Debs S,
Averion G,
Hu Y,
Zein WM,
Foley AR,
Jain M,
Bönnemann CG
Brain
2021 Nov 29;144(10):3239-3250.
doi: 10.1093/brain/awab179.
PMID: 34114613Free PMC Article
Ashrafi MR,
Amanat M,
Garshasbi M,
Kameli R,
Nilipour Y,
Heidari M,
Rezaei Z,
Tavasoli AR
Expert Rev Neurother
2020 Jan;20(1):65-84.
Epub 2019 Dec 12
doi: 10.1080/14737175.2020.1699060.
PMID: 31829048
Grimm A,
Heiling B,
Schumacher U,
Witte OW,
Axer H
Muscle Nerve
2014 Dec;50(6):976-83.
Epub 2014 Oct 30
doi: 10.1002/mus.24238.
PMID: 24634226
Friedman JS,
Ray JW,
Waseem N,
Johnson K,
Brooks MJ,
Hugosson T,
Breuer D,
Branham KE,
Krauth DS,
Bowne SJ,
Sullivan LS,
Ponjavic V,
Gränse L,
Khanna R,
Trager EH,
Gieser LM,
Hughbanks-Wheaton D,
Cojocaru RI,
Ghiasvand NM,
Chakarova CF,
Abrahamson M,
Göring HH,
Webster AR,
Birch DG,
Abecasis GR,
Fann Y,
Bhattacharya SS,
Daiger SP,
Heckenlively JR,
Andréasson S,
Swaroop A
Am J Hum Genet
2009 Jun;84(6):792-800.
doi: 10.1016/j.ajhg.2009.05.007.
PMID: 19520207Free PMC Article
Yang Y,
Allen E,
Ding J,
Wang W
Cell Mol Life Sci
2007 Mar;64(5):601-9.
doi: 10.1007/s00018-007-6396-4.
PMID: 17256086Free PMC Article
Diagnosis
Finsterer J,
Löscher WN,
Wanschitz J,
Iglseder S
J Neuromuscul Dis
2021;8(1):1-23.
doi: 10.3233/JND-200518.
PMID: 32986679Free PMC Article
Ashrafi MR,
Amanat M,
Garshasbi M,
Kameli R,
Nilipour Y,
Heidari M,
Rezaei Z,
Tavasoli AR
Expert Rev Neurother
2020 Jan;20(1):65-84.
Epub 2019 Dec 12
doi: 10.1080/14737175.2020.1699060.
PMID: 31829048
Babar MU,
Hakeem H,
Khan S
BMJ Case Rep
2017 Mar 27;2017
doi: 10.1136/bcr-2016-219105.
PMID: 28348263Free PMC Article
Vijaykumar K,
Bindu PS,
Taly AB,
Mahadevan A,
Bharath RD,
Gayathri N,
Nagappa M,
Sinha S
J Child Neurol
2015 Jun;30(7):912-5.
Epub 2014 Sep 11
doi: 10.1177/0883073814547721.
PMID: 25213662
Hentati F,
Hentati E,
Amouri R
Handb Clin Neurol
2013;115:933-8.
doi: 10.1016/B978-0-444-52902-2.00052-7.
PMID: 23931822
Therapy
Metovic J,
Li Y,
Gong Y,
Eichler F
Neurotherapeutics
2024 Jul;21(4):e00443.
Epub 2024 Sep 13
doi: 10.1016/j.neurot.2024.e00443.
PMID: 39276676Free PMC Article
Bharucha-Goebel DX,
Todd JJ,
Saade D,
Norato G,
Jain M,
Lehky T,
Bailey RM,
Chichester JA,
Calcedo R,
Armao D,
Foley AR,
Mohassel P,
Tesfaye E,
Carlin BP,
Seremula B,
Waite M,
Zein WM,
Huryn LA,
Crawford TO,
Sumner CJ,
Hoke A,
Heiss JD,
Charnas L,
Hooper JE,
Bouldin TW,
Kang EM,
Rybin D,
Gray SJ,
Bönnemann CG;
GAN Trial Team
N Engl J Med
2024 Mar 21;390(12):1092-1104.
doi: 10.1056/NEJMoa2307952.
PMID: 38507752
Bharucha-Goebel DX,
Norato G,
Saade D,
Paredes E,
Biancavilla V,
Donkervoort S,
Kaur R,
Lehky T,
Fink M,
Armao D,
Gray SJ,
Waite M,
Debs S,
Averion G,
Hu Y,
Zein WM,
Foley AR,
Jain M,
Bönnemann CG
Brain
2021 Nov 29;144(10):3239-3250.
doi: 10.1093/brain/awab179.
PMID: 34114613Free PMC Article
Mendell JR,
Al-Zaidy SA,
Rodino-Klapac LR,
Goodspeed K,
Gray SJ,
Kay CN,
Boye SL,
Boye SE,
George LA,
Salabarria S,
Corti M,
Byrne BJ,
Tremblay JP
Mol Ther
2021 Feb 3;29(2):464-488.
Epub 2020 Dec 10
doi: 10.1016/j.ymthe.2020.12.007.
PMID: 33309881Free PMC Article
Chang AP,
England JD,
Garcia CA,
Sumner AJ
Muscle Nerve
1998 Jul;21(7):964-9.
doi: 10.1002/(sici)1097-4598(199807)21:7<964::aid-mus21>3.0.co;2-p.
PMID: 9626263
Prognosis
Echaniz-Laguna A,
Cuisset JM,
Guyant-Marechal L,
Aubourg P,
Kremer L,
Baaloul N,
Verloes A,
Beladgham K,
Perrot J,
Francou B,
Latour P
Neurogenetics
2020 Jan;21(1):29-37.
Epub 2019 Oct 26
doi: 10.1007/s10048-019-00596-z.
PMID: 31655922
Normendez-Martínez MI,
Monterde-Cruz L,
Martínez R,
Marquez-Harper M,
Esquitin-Garduño N,
Valdes-Flores M,
Casas-Avila L,
de Leon-Suarez VP,
Romero-Díaz VJ,
Hidalgo-Bravo A
World J Pediatr
2018 Jun;14(3):298-304.
Epub 2018 Jun 6
doi: 10.1007/s12519-018-0140-z.
PMID: 29876741
Roth LA,
Marra JD,
LaMarca NH,
Sproule DM
J Child Neurol
2015 May;30(6):741-8.
Epub 2014 Sep 3
doi: 10.1177/0883073814542946.
PMID: 25186661
Hentati F,
Hentati E,
Amouri R
Handb Clin Neurol
2013;115:933-8.
doi: 10.1016/B978-0-444-52902-2.00052-7.
PMID: 23931822
Mahammad S,
Murthy SN,
Didonna A,
Grin B,
Israeli E,
Perrot R,
Bomont P,
Julien JP,
Kuczmarski E,
Opal P,
Goldman RD
J Clin Invest
2013 May;123(5):1964-75.
Epub 2013 Apr 15
doi: 10.1172/JCI66387.
PMID: 23585478Free PMC Article
Clinical prediction guides
Bharucha-Goebel DX,
Todd JJ,
Saade D,
Norato G,
Jain M,
Lehky T,
Bailey RM,
Chichester JA,
Calcedo R,
Armao D,
Foley AR,
Mohassel P,
Tesfaye E,
Carlin BP,
Seremula B,
Waite M,
Zein WM,
Huryn LA,
Crawford TO,
Sumner CJ,
Hoke A,
Heiss JD,
Charnas L,
Hooper JE,
Bouldin TW,
Kang EM,
Rybin D,
Gray SJ,
Bönnemann CG;
GAN Trial Team
N Engl J Med
2024 Mar 21;390(12):1092-1104.
doi: 10.1056/NEJMoa2307952.
PMID: 38507752
Bharucha-Goebel DX,
Norato G,
Saade D,
Paredes E,
Biancavilla V,
Donkervoort S,
Kaur R,
Lehky T,
Fink M,
Armao D,
Gray SJ,
Waite M,
Debs S,
Averion G,
Hu Y,
Zein WM,
Foley AR,
Jain M,
Bönnemann CG
Brain
2021 Nov 29;144(10):3239-3250.
doi: 10.1093/brain/awab179.
PMID: 34114613Free PMC Article
Echaniz-Laguna A,
Cuisset JM,
Guyant-Marechal L,
Aubourg P,
Kremer L,
Baaloul N,
Verloes A,
Beladgham K,
Perrot J,
Francou B,
Latour P
Neurogenetics
2020 Jan;21(1):29-37.
Epub 2019 Oct 26
doi: 10.1007/s10048-019-00596-z.
PMID: 31655922
Didonna A,
Opal P
Mol Neurodegener
2019 May 16;14(1):19.
doi: 10.1186/s13024-019-0318-4.
PMID: 31097008Free PMC Article
Dequen F,
Cairns NJ,
Bigio EH,
Julien JP
Neurobiol Aging
2011 Aug;32(8):1528-9.
Epub 2009 Sep 26
doi: 10.1016/j.neurobiolaging.2009.08.018.
PMID: 19782434Free PMC Article