Etiology
Jacinto-Scudeiro LA,
Rothe-Neves R,
Dos Santos VB,
Machado GD,
Burguêz D,
Padovani MMP,
Ayres A,
Rech RS,
González-Salazar C,
Junior MCF,
Saute JAM,
Olchik MR
Clinics (Sao Paulo)
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Zhelcheska K,
Cipriani V,
Galanaki E,
Maroofian R,
Efthymiou S,
Murphy D,
O'Driscoll M,
Suri M,
Banka S,
Clayton-Smith J,
Wright T,
Redman M,
Bassetti JA,
Nizon M,
Cogne B,
Jamra RA,
Bartolomaeus T,
Heruth M,
Krey I,
Gburek-Augustat J,
Wieczorek D,
Gattermann F,
Mcentagart M,
Goldenberg A,
Guyant-Marechal L,
Garcia-Moreno H,
Giunti P,
Chabrol B,
Bacrot S,
Buissonnière R,
Magry V,
Gowda VK,
Srinivasan VM,
Melegh B,
Szabó A,
Sümegi K,
Cossée M,
Ziff M,
Butterfield R,
Hunt D,
Bird-Lieberman G,
Hanna M,
Koenig M,
Stankewich M,
Vandrovcova J,
Houlden H;
Genomics England Research Consortium
Genet Med
2023 Jan;25(1):76-89.
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MacWilliams BA,
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Gait Posture
2022 Oct;98:34-38.
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PMID: 36041285
Ebrahimi-Fakhari D,
Teinert J,
Behne R,
Wimmer M,
D'Amore A,
Eberhardt K,
Brechmann B,
Ziegler M,
Jensen DM,
Nagabhyrava P,
Geisel G,
Carmody E,
Shamshad U,
Dies KA,
Yuskaitis CJ,
Salussolia CL,
Ebrahimi-Fakhari D,
Pearson TS,
Saffari A,
Ziegler A,
Kölker S,
Volkmann J,
Wiesener A,
Bearden DR,
Lakhani S,
Segal D,
Udwadia-Hegde A,
Martinuzzi A,
Hirst J,
Perlman S,
Takiyama Y,
Xiromerisiou G,
Vill K,
Walker WO,
Shukla A,
Dubey Gupta R,
Dahl N,
Aksoy A,
Verhelst H,
Delgado MR,
Kremlikova Pourova R,
Sadek AA,
Elkhateeb NM,
Blumkin L,
Brea-Fernández AJ,
Dacruz-Álvarez D,
Smol T,
Ghoumid J,
Miguel D,
Heine C,
Schlump JU,
Langen H,
Baets J,
Bulk S,
Darvish H,
Bakhtiari S,
Kruer MC,
Lim-Melia E,
Aydinli N,
Alanay Y,
El-Rashidy O,
Nampoothiri S,
Patel C,
Beetz C,
Bauer P,
Yoon G,
Guillot M,
Miller SP,
Bourinaris T,
Houlden H,
Robelin L,
Anheim M,
Alamri AS,
Mahmoud AAH,
Inaloo S,
Habibzadeh P,
Faghihi MA,
Jansen AC,
Brock S,
Roubertie A,
Darras BT,
Agrawal PB,
Santorelli FM,
Gleeson J,
Zaki MS,
Sheikh SI,
Bennett JT,
Sahin M
Brain
2020 Oct 1;143(10):2929-2944.
doi: 10.1093/brain/awz307.
PMID: 32979048Free PMC Article
Schöls L,
Rattay TW,
Martus P,
Meisner C,
Baets J,
Fischer I,
Jägle C,
Fraidakis MJ,
Martinuzzi A,
Saute JA,
Scarlato M,
Antenora A,
Stendel C,
Höflinger P,
Lourenco CM,
Abreu L,
Smets K,
Paucar M,
Deconinck T,
Bis DM,
Wiethoff S,
Bauer P,
Arnoldi A,
Marques W,
Jardim LB,
Hauser S,
Criscuolo C,
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Brain
2017 Dec 1;140(12):3112-3127.
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Diagnosis
Siow SF,
Yeow D,
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Jia F,
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Genes (Basel)
2023 Sep 3;14(9)
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PMID: 37761896Free PMC Article
Jacinto-Scudeiro LA,
Rothe-Neves R,
Dos Santos VB,
Machado GD,
Burguêz D,
Padovani MMP,
Ayres A,
Rech RS,
González-Salazar C,
Junior MCF,
Saute JAM,
Olchik MR
Clinics (Sao Paulo)
2023;78:100128.
Epub 2022 Dec 3
doi: 10.1016/j.clinsp.2022.100128.
PMID: 36473366Free PMC Article
Laßmann C,
Ilg W,
Schneider M,
Völker M,
Haeufle DFB,
Schüle R,
Giese M,
Synofzik M,
Schöls L,
Rattay TW
Mov Disord
2022 Dec;37(12):2417-2426.
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Du J
J Clin Neurosci
2021 Mar;85:67-71.
Epub 2021 Jan 15
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PMID: 33581793
Ebrahimi-Fakhari D,
Teinert J,
Behne R,
Wimmer M,
D'Amore A,
Eberhardt K,
Brechmann B,
Ziegler M,
Jensen DM,
Nagabhyrava P,
Geisel G,
Carmody E,
Shamshad U,
Dies KA,
Yuskaitis CJ,
Salussolia CL,
Ebrahimi-Fakhari D,
Pearson TS,
Saffari A,
Ziegler A,
Kölker S,
Volkmann J,
Wiesener A,
Bearden DR,
Lakhani S,
Segal D,
Udwadia-Hegde A,
Martinuzzi A,
Hirst J,
Perlman S,
Takiyama Y,
Xiromerisiou G,
Vill K,
Walker WO,
Shukla A,
Dubey Gupta R,
Dahl N,
Aksoy A,
Verhelst H,
Delgado MR,
Kremlikova Pourova R,
Sadek AA,
Elkhateeb NM,
Blumkin L,
Brea-Fernández AJ,
Dacruz-Álvarez D,
Smol T,
Ghoumid J,
Miguel D,
Heine C,
Schlump JU,
Langen H,
Baets J,
Bulk S,
Darvish H,
Bakhtiari S,
Kruer MC,
Lim-Melia E,
Aydinli N,
Alanay Y,
El-Rashidy O,
Nampoothiri S,
Patel C,
Beetz C,
Bauer P,
Yoon G,
Guillot M,
Miller SP,
Bourinaris T,
Houlden H,
Robelin L,
Anheim M,
Alamri AS,
Mahmoud AAH,
Inaloo S,
Habibzadeh P,
Faghihi MA,
Jansen AC,
Brock S,
Roubertie A,
Darras BT,
Agrawal PB,
Santorelli FM,
Gleeson J,
Zaki MS,
Sheikh SI,
Bennett JT,
Sahin M
Brain
2020 Oct 1;143(10):2929-2944.
doi: 10.1093/brain/awz307.
PMID: 32979048Free PMC Article
Therapy
van de Venis L,
van de Warrenburg BPC,
Weerdesteyn V,
van Lith BJH,
Geurts ACH,
Nonnekes J
Trials
2021 Jan 7;22(1):32.
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PMID: 33413555Free PMC Article
Schöls L,
Rattay TW,
Martus P,
Meisner C,
Baets J,
Fischer I,
Jägle C,
Fraidakis MJ,
Martinuzzi A,
Saute JA,
Scarlato M,
Antenora A,
Stendel C,
Höflinger P,
Lourenco CM,
Abreu L,
Smets K,
Paucar M,
Deconinck T,
Bis DM,
Wiethoff S,
Bauer P,
Arnoldi A,
Marques W,
Jardim LB,
Hauser S,
Criscuolo C,
Filla A,
Züchner S,
Bassi MT,
Klopstock T,
De Jonghe P,
Björkhem I,
Schüle R
Brain
2017 Dec 1;140(12):3112-3127.
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PMID: 29126212Free PMC Article
Geva-Dayan K,
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Fattal-Valevski A
J Child Neurol
2010 Aug;25(8):969-75.
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Prognosis
MacWilliams BA,
Carroll KL,
Stotts AK,
Kerr LM,
Schwartz MH
Gait Posture
2022 Oct;98:34-38.
Epub 2022 Aug 17
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PMID: 36041285
Chen J,
Zhao Z,
Shen H,
Bing Q,
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Guo X,
Hu J
BMC Neurol
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Hereditas
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PMID: 29309384
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Mearini M,
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Brain
2016 Jan;139(Pt 1):73-85.
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Clinical prediction guides
Laßmann C,
Ilg W,
Schneider M,
Völker M,
Haeufle DFB,
Schüle R,
Giese M,
Synofzik M,
Schöls L,
Rattay TW
Mov Disord
2022 Dec;37(12):2417-2426.
Epub 2022 Aug 29
doi: 10.1002/mds.29199.
PMID: 36054444
MacWilliams BA,
Carroll KL,
Stotts AK,
Kerr LM,
Schwartz MH
Gait Posture
2022 Oct;98:34-38.
Epub 2022 Aug 17
doi: 10.1016/j.gaitpost.2022.08.011.
PMID: 36041285
Du J
J Clin Neurosci
2021 Mar;85:67-71.
Epub 2021 Jan 15
doi: 10.1016/j.jocn.2020.11.036.
PMID: 33581793
Liu N,
Chen J,
Xu C,
Shi T,
Li J
Hereditas
2019;156:28.
Epub 2019 Aug 13
doi: 10.1186/s41065-019-0104-x.
PMID: 31427910Free PMC Article
Yogev Y,
Perez Y,
Noyman I,
Madegem AA,
Flusser H,
Shorer Z,
Cohen E,
Kachko L,
Michaelovsky A,
Birk R,
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