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
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
Yiu EM,
Ryan MM
J Peripher Nerv Syst
2012 Sep;17(3):285-300.
doi: 10.1111/j.1529-8027.2012.00412.x.
PMID: 22971091
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
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
Yiu EM,
Ryan MM
J Peripher Nerv Syst
2012 Sep;17(3):285-300.
doi: 10.1111/j.1529-8027.2012.00412.x.
PMID: 22971091
Therapy
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
Yousef M,
Bharucha-Goebel D,
Saade D,
Averion G,
Bönnemann CG,
Quezado ZMN
A A Pract
2021 Oct 25;15(10):e01539.
doi: 10.1213/XAA.0000000000001539.
PMID: 34695041
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
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
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
Soomro A,
Alsop RJ,
Negishi A,
Kreplak L,
Fudge D,
Kuczmarski ER,
Goldman RD,
Rheinstädter MC
J R Soc Interface
2017 Apr;14(129)
doi: 10.1098/rsif.2017.0123.
PMID: 28424304Free PMC Article
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