Etiology
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.
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O'Connor K,
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Horvath R
Int J Mol Sci
2023 May 9;24(10)
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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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Finsterer J
Orphanet J Rare Dis
2019 Feb 26;14(1):57.
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Juel VC,
Massey JM
Orphanet J Rare Dis
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PMID: 17986328Free PMC Article
Diagnosis
Allen NM,
O'Rahelly M,
Eymard B,
Chouchane M,
Hahn A,
Kearns G,
Kim DS,
Byun SY,
Nguyen CE,
Schara-Schmidt U,
Kölbel H,
Marina AD,
Schneider-Gold C,
Roefke K,
Thieme A,
Van den Bergh P,
Avalos G,
Álvarez-Velasco R,
Natera-de Benito D,
Cheng MHM,
Chan WK,
Wan HS,
Thomas MA,
Borch L,
Lauzon J,
Kornblum C,
Reimann J,
Mueller A,
Kuntzer T,
Norwood F,
Ramdas S,
Jacobson LW,
Jie X,
Fernandez-Garcia MA,
Wraige E,
Lim M,
Lin JP,
Claeys KG,
Aktas S,
Oskoui M,
Hacohen Y,
Masud A,
Leite MI,
Palace J,
De Vivo D,
Vincent A,
Jungbluth H
Brain
2023 Oct 3;146(10):4233-4246.
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PMID: 37186601Free PMC Article
Gonzalez-Quereda L,
Rodriguez MJ,
Diaz-Manera J,
Alonso-Perez J,
Gallardo E,
Nascimento A,
Ortez C,
Natera-de Benito D,
Olive M,
Gonzalez-Mera L,
Munain AL,
Zulaica M,
Poza JJ,
Jerico I,
Torne L,
Riera P,
Milisenda J,
Sanchez A,
Garrabou G,
Llano I,
Madruga-Garrido M,
Gallano P
Genes (Basel)
2020 May 11;11(5)
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PMID: 32403337Free PMC Article
Ciafaloni E
Continuum (Minneap Minn)
2019 Dec;25(6):1767-1784.
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PMID: 31794470
Finsterer J
Orphanet J Rare Dis
2019 Feb 26;14(1):57.
doi: 10.1186/s13023-019-1025-5.
PMID: 30808424Free PMC Article
Juel VC,
Massey JM
Orphanet J Rare Dis
2007 Nov 6;2:44.
doi: 10.1186/1750-1172-2-44.
PMID: 17986328Free PMC Article
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
Ciafaloni E
Continuum (Minneap Minn)
2019 Dec;25(6):1767-1784.
doi: 10.1212/CON.0000000000000800.
PMID: 31794470
Finsterer J
Orphanet J Rare Dis
2019 Feb 26;14(1):57.
doi: 10.1186/s13023-019-1025-5.
PMID: 30808424Free PMC Article
Tsao CY
Pediatr Neurol
2016 Jan;54:85-7.
Epub 2015 Nov 6
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PMID: 26552645
Prognosis
Hyde LF,
Kong Y,
Zhao L,
Rao SR,
Wang J,
Stone L,
Njaa A,
Collin GB,
Krebs MP,
Chang B,
Fliesler SJ,
Nishina PM,
Naggert JK
Int J Mol Sci
2022 Oct 9;23(19)
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PMID: 36233305Free PMC Article
Yang K,
Cheng H,
Yuan F,
Meng L,
Yin R,
Zhang Y,
Wang S,
Wang C,
Lu Y,
Xi J,
Lu Q,
Chen Y
Medicine (Baltimore)
2018 Apr;97(17):e0347.
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Luan X,
Tian W,
Cao L
Clin Neurol Neurosurg
2016 Nov;150:41-45.
Epub 2016 Aug 22
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PMID: 27588369
Lashley D,
Palace J,
Jayawant S,
Robb S,
Beeson D
Neurology
2010 May 11;74(19):1517-23.
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PMID: 20458068Free PMC Article
Juel VC,
Massey JM
Orphanet J Rare Dis
2007 Nov 6;2:44.
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PMID: 17986328Free PMC Article
Clinical prediction guides
Prior DE,
Cooper BA,
Zhang B,
Ghosh PS
Muscle Nerve
2021 May;63(5):751-757.
Epub 2021 Feb 28
doi: 10.1002/mus.27208.
PMID: 33604899
McMacken G,
Whittaker RG,
Evangelista T,
Abicht A,
Dusl M,
Lochmüller H
J Neurol
2018 Jan;265(1):194-203.
Epub 2017 Nov 30
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PMID: 29189923Free PMC Article
Caggiano S,
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Verrillo E,
Barnerias C,
Amaddeo A,
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Thierry B,
Desguerre I,
Cutrera R,
Fauroux B
Eur J Paediatr Neurol
2017 Nov;21(6):842-851.
Epub 2017 Jul 21
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PMID: 28755803
Luan X,
Tian W,
Cao L
Clin Neurol Neurosurg
2016 Nov;150:41-45.
Epub 2016 Aug 22
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PMID: 27588369
Witting N,
Vissing J
JAMA Neurol
2014 Mar;71(3):350-4.
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PMID: 24425145