Etiology
Theuriet J,
Masingue M,
Behin A,
Ferreiro A,
Bassez G,
Jaubert P,
Tarabay O,
Fer F,
Pegat A,
Bouhour F,
Svahn J,
Petiot P,
Jomir L,
Chauplannaz G,
Cornut-Chauvinc C,
Manel V,
Salort-Campana E,
Attarian S,
Fortanier E,
Verschueren A,
Kouton L,
Camdessanché JP,
Tard C,
Magot A,
Péréon Y,
Noury JB,
Minot-Myhie MC,
Perie M,
Taithe F,
Farhat Y,
Millet AL,
Cintas P,
Solé G,
Spinazzi M,
Esselin F,
Renard D,
Sacconi S,
Ezaru A,
Malfatti E,
Mallaret M,
Magy L,
Diab E,
Merle P,
Michaud M,
Fournier M,
Pakleza AN,
Chanson JB,
Lefeuvre C,
Laforet P,
Richard P,
Sternberg D,
Villar-Quiles RN,
Stojkovic T,
Eymard B
Brain
2024 Nov 4;147(11):3849-3862.
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PMID: 38696726Free PMC Article
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.
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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
Finsterer J
Orphanet J Rare Dis
2019 Feb 26;14(1):57.
doi: 10.1186/s13023-019-1025-5.
PMID: 30808424Free PMC Article
Diagnosis
Theuriet J,
Masingue M,
Behin A,
Ferreiro A,
Bassez G,
Jaubert P,
Tarabay O,
Fer F,
Pegat A,
Bouhour F,
Svahn J,
Petiot P,
Jomir L,
Chauplannaz G,
Cornut-Chauvinc C,
Manel V,
Salort-Campana E,
Attarian S,
Fortanier E,
Verschueren A,
Kouton L,
Camdessanché JP,
Tard C,
Magot A,
Péréon Y,
Noury JB,
Minot-Myhie MC,
Perie M,
Taithe F,
Farhat Y,
Millet AL,
Cintas P,
Solé G,
Spinazzi M,
Esselin F,
Renard D,
Sacconi S,
Ezaru A,
Malfatti E,
Mallaret M,
Magy L,
Diab E,
Merle P,
Michaud M,
Fournier M,
Pakleza AN,
Chanson JB,
Lefeuvre C,
Laforet P,
Richard P,
Sternberg D,
Villar-Quiles RN,
Stojkovic T,
Eymard B
Brain
2024 Nov 4;147(11):3849-3862.
doi: 10.1093/brain/awae124.
PMID: 38696726Free 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
Tsalta-Mladenov M,
Levkova M,
Georgieva D,
Andonova S
J Am Assoc Nurse Pract
2023 Aug 1;35(8):519-523.
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PMID: 37141567
Hamasaki Y,
Hamada R,
Muramatsu M,
Matsumoto S,
Aya K,
Ishikura K,
Kaneko T,
Iijima K
BMC Nephrol
2020 Aug 24;21(1):363.
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PMID: 32838745Free PMC Article
Finsterer J
Orphanet J Rare Dis
2019 Feb 26;14(1):57.
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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
Prognosis
Theuriet J,
Masingue M,
Behin A,
Ferreiro A,
Bassez G,
Jaubert P,
Tarabay O,
Fer F,
Pegat A,
Bouhour F,
Svahn J,
Petiot P,
Jomir L,
Chauplannaz G,
Cornut-Chauvinc C,
Manel V,
Salort-Campana E,
Attarian S,
Fortanier E,
Verschueren A,
Kouton L,
Camdessanché JP,
Tard C,
Magot A,
Péréon Y,
Noury JB,
Minot-Myhie MC,
Perie M,
Taithe F,
Farhat Y,
Millet AL,
Cintas P,
Solé G,
Spinazzi M,
Esselin F,
Renard D,
Sacconi S,
Ezaru A,
Malfatti E,
Mallaret M,
Magy L,
Diab E,
Merle P,
Michaud M,
Fournier M,
Pakleza AN,
Chanson JB,
Lefeuvre C,
Laforet P,
Richard P,
Sternberg D,
Villar-Quiles RN,
Stojkovic T,
Eymard B
Brain
2024 Nov 4;147(11):3849-3862.
doi: 10.1093/brain/awae124.
PMID: 38696726Free PMC Article
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
Clinical prediction guides
Miyairi Y,
Ohkawara B,
Sato A,
Sawada R,
Ishii H,
Tomita H,
Inoue T,
Nakashima H,
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Ohno K
Biochem Biophys Res Commun
2024 Oct 30;731:150400.
Epub 2024 Jul 14
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PMID: 39024975
Yıldırım M,
Yarenci GB,
Genç MB,
Uçar Çİ,
Bayav S,
Tekin MN,
Bektaş Ö,
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Neuropediatrics
2024 Jun;55(3):200-204.
Epub 2024 Mar 26
doi: 10.1055/s-0044-1782675.
PMID: 38531369
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
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PMID: 33756069Free PMC Article
Luan X,
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Clin Neurol Neurosurg
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JAMA Neurol
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PMID: 24425145