Etiology
Polavarapu K,
Sunitha B,
Töpf A,
Preethish-Kumar V,
Thompson R,
Vengalil S,
Nashi S,
Bardhan M,
Sanka SB,
Huddar A,
Unnikrishnan G,
Arunachal G,
Girija MS,
Porter A,
Azuma Y,
Lorenzoni PJ,
Baskar D,
Anjanappa RM,
Keertipriya M,
Padmanabh H,
Harikrishna GV,
Laurie S,
Matalonga L,
Horvath R,
Nalini A,
Lochmüller H
Brain
2024 Jan 4;147(1):281-296.
doi: 10.1093/brain/awad315.
PMID: 37721175Free PMC Article
Estephan EP,
Zambon AA,
Thompson R,
Polavarapu K,
Jomaa D,
Töpf A,
Helito PVP,
Heise CO,
Moreno CAM,
Silva AMS,
Kouyoumdjian JA,
Morita MDP,
Reed UC,
Lochmüller H,
Zanoteli E
Eur J Neurol
2022 Mar;29(3):833-842.
Epub 2021 Nov 17
doi: 10.1111/ene.15173.
PMID: 34749429
Zhao Y,
Li Y,
Bian Y,
Yao S,
Liu P,
Yu M,
Zhang W,
Wang Z,
Yuan Y
Ann Clin Transl Neurol
2021 Apr;8(4):898-907.
Epub 2021 Mar 23
doi: 10.1002/acn3.51346.
PMID: 33756069Free PMC Article
Prior DE,
Ghosh PS
J Child Neurol
2021 Jul;36(8):610-617.
Epub 2021 Jan 20
doi: 10.1177/0883073820987755.
PMID: 33471587
Finsterer J
Orphanet J Rare Dis
2019 Feb 26;14(1):57.
doi: 10.1186/s13023-019-1025-5.
PMID: 30808424Free PMC Article
Diagnosis
Polavarapu K,
Sunitha B,
Töpf A,
Preethish-Kumar V,
Thompson R,
Vengalil S,
Nashi S,
Bardhan M,
Sanka SB,
Huddar A,
Unnikrishnan G,
Arunachal G,
Girija MS,
Porter A,
Azuma Y,
Lorenzoni PJ,
Baskar D,
Anjanappa RM,
Keertipriya M,
Padmanabh H,
Harikrishna GV,
Laurie S,
Matalonga L,
Horvath R,
Nalini A,
Lochmüller H
Brain
2024 Jan 4;147(1):281-296.
doi: 10.1093/brain/awad315.
PMID: 37721175Free PMC Article
Gilhus NE
Handb Clin Neurol
2023;195:635-652.
doi: 10.1016/B978-0-323-98818-6.00010-8.
PMID: 37562891
Estephan EP,
Zambon AA,
Thompson R,
Polavarapu K,
Jomaa D,
Töpf A,
Helito PVP,
Heise CO,
Moreno CAM,
Silva AMS,
Kouyoumdjian JA,
Morita MDP,
Reed UC,
Lochmüller H,
Zanoteli E
Eur J Neurol
2022 Mar;29(3):833-842.
Epub 2021 Nov 17
doi: 10.1111/ene.15173.
PMID: 34749429
Finsterer J
Orphanet J Rare Dis
2019 Feb 26;14(1):57.
doi: 10.1186/s13023-019-1025-5.
PMID: 30808424Free PMC Article
Engel AG
Curr Neurol Neurosci Rep
2018 Jun 12;18(8):46.
doi: 10.1007/s11910-018-0852-4.
PMID: 29892917
Therapy
Hesami O,
Ramezani M,
Ghasemi A,
Fatehi F,
Okhovat AA,
Ziaadini B,
Kariminejad A,
Nafissi S
Orphanet J Rare Dis
2024 Mar 12;19(1):113.
doi: 10.1186/s13023-024-03116-x.
PMID: 38475910Free PMC Article
Hamasaki Y,
Hamada R,
Muramatsu M,
Matsumoto S,
Aya K,
Ishikura K,
Kaneko T,
Iijima K
BMC Nephrol
2020 Aug 24;21(1):363.
doi: 10.1186/s12882-020-02010-5.
PMID: 32838745Free PMC Article
Finsterer J
Orphanet J Rare Dis
2019 Feb 26;14(1):57.
doi: 10.1186/s13023-019-1025-5.
PMID: 30808424Free PMC Article
Ito M,
Ohno K
Matrix Biol
2018 Aug;68-69:628-636.
Epub 2018 Feb 20
doi: 10.1016/j.matbio.2018.02.014.
PMID: 29475025
Spillane J,
Beeson DJ,
Kullmann DM
J Neurol Neurosurg Psychiatry
2010 Aug;81(8):850-7.
Epub 2010 Jun 14
doi: 10.1136/jnnp.2008.169367.
PMID: 20547629
Prognosis
Gilhus NE
Handb Clin Neurol
2023;195:635-652.
doi: 10.1016/B978-0-323-98818-6.00010-8.
PMID: 37562891
Verschuuren JJ,
Palace J,
Murai H,
Tannemaat MR,
Kaminski HJ,
Bril V
Lancet Neurol
2022 Feb;21(2):189-202.
doi: 10.1016/S1474-4422(21)00463-4.
PMID: 35065041
Zhao Y,
Li Y,
Bian Y,
Yao S,
Liu P,
Yu M,
Zhang W,
Wang Z,
Yuan Y
Ann Clin Transl Neurol
2021 Apr;8(4):898-907.
Epub 2021 Mar 23
doi: 10.1002/acn3.51346.
PMID: 33756069Free PMC Article
Durmus H,
Shen XM,
Serdaroglu-Oflazer P,
Kara B,
Parman-Gulsen Y,
Ozdemir C,
Brengman J,
Deymeer F,
Engel AG
Neuromuscul Disord
2018 Apr;28(4):315-322.
Epub 2017 Nov 28
doi: 10.1016/j.nmd.2017.11.013.
PMID: 29395675Free PMC Article
Spillane J,
Beeson DJ,
Kullmann DM
J Neurol Neurosurg Psychiatry
2010 Aug;81(8):850-7.
Epub 2010 Jun 14
doi: 10.1136/jnnp.2008.169367.
PMID: 20547629
Clinical prediction guides
Zhao Y,
Li Y,
Bian Y,
Yao S,
Liu P,
Yu M,
Zhang W,
Wang Z,
Yuan Y
Ann Clin Transl Neurol
2021 Apr;8(4):898-907.
Epub 2021 Mar 23
doi: 10.1002/acn3.51346.
PMID: 33756069Free PMC Article
Caggiano S,
Khirani S,
Verrillo E,
Barnerias C,
Amaddeo A,
Gitiaux C,
Thierry B,
Desguerre I,
Cutrera R,
Fauroux B
Eur J Paediatr Neurol
2017 Nov;21(6):842-851.
Epub 2017 Jul 21
doi: 10.1016/j.ejpn.2017.07.010.
PMID: 28755803
Luan X,
Tian W,
Cao L
Clin Neurol Neurosurg
2016 Nov;150:41-45.
Epub 2016 Aug 22
doi: 10.1016/j.clineuro.2016.08.021.
PMID: 27588369
Witting N,
Vissing J
JAMA Neurol
2014 Mar;71(3):350-4.
doi: 10.1001/jamaneurol.2013.5590.
PMID: 24425145
Milone M,
Shen XM,
Selcen D,
Ohno K,
Brengman J,
Iannaccone ST,
Harper CM,
Engel AG
Neurology
2009 Jul 21;73(3):228-35.
doi: 10.1212/WNL.0b013e3181ae7cbc.
PMID: 19620612Free PMC Article