Etiology
Wang J,
Fang F,
Ding C,
Li J,
Wu Y,
Zhang W,
Bao X,
Lv J,
Wang X,
Ren X;
Paediatric Neurology Study Group
Dev Med Child Neurol
2023 Mar;65(3):416-423.
Epub 2022 Sep 15
doi: 10.1111/dmcn.15385.
PMID: 36109173
Tábara LC,
Al-Salmi F,
Maroofian R,
Al-Futaisi AM,
Al-Murshedi F,
Kennedy J,
Day JO,
Courtin T,
Al-Khayat A,
Galedari H,
Mazaheri N,
Protasoni M,
Johnson M,
Leslie JS,
Salter CG,
Rawlins LE,
Fasham J,
Al-Maawali A,
Voutsina N,
Charles P,
Harrold L,
Keren B,
Kunji ERS,
Vona B,
Jelodar G,
Sedaghat A,
Shariati G,
Houlden H,
Crosby AH,
Prudent J,
Baple EL
Brain
2022 Sep 14;145(9):3095-3107.
doi: 10.1093/brain/awac123.
PMID: 35718349Free PMC Article
Pozner T,
Regensburger M,
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Winner B
Brain
2020 Aug 1;143(8):2369-2379.
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Parodi L,
Fenu S,
Stevanin G,
Durr A
Rev Neurol (Paris)
2017 May;173(5):352-360.
Epub 2017 Apr 24
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Klebe S,
Stevanin G,
Depienne C
Rev Neurol (Paris)
2015 Jun-Jul;171(6-7):505-30.
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Diagnosis
Saffari A,
Kellner M,
Jordan C,
Rosengarten H,
Mo A,
Zhang B,
Strelko O,
Neuser S,
Davis MY,
Yoshikura N,
Futamura N,
Takeuchi T,
Nabatame S,
Ishiura H,
Tsuji S,
Aldeen HS,
Cali E,
Rocca C,
Houlden H,
Efthymiou S,
Assmann B,
Yoon G,
Trombetta BA,
Kivisäkk P,
Eichler F,
Nan H,
Takiyama Y,
Tessa A,
Santorelli FM,
Sahin M,
Blackstone C,
Yang E,
Schüle R,
Ebrahimi-Fakhari D
Brain
2023 May 2;146(5):2003-2015.
doi: 10.1093/brain/awac391.
PMID: 36315648Free PMC Article
Wang J,
Fang F,
Ding C,
Li J,
Wu Y,
Zhang W,
Bao X,
Lv J,
Wang X,
Ren X;
Paediatric Neurology Study Group
Dev Med Child Neurol
2023 Mar;65(3):416-423.
Epub 2022 Sep 15
doi: 10.1111/dmcn.15385.
PMID: 36109173
de Freitas JL,
Rezende Filho FM,
Sallum JMF,
França MC Jr,
Pedroso JL,
Barsottini OGP
J Neurol Sci
2020 Feb 15;409:116620.
Epub 2019 Dec 6
doi: 10.1016/j.jns.2019.116620.
PMID: 31865189
Bereznyakova O,
Dupré N
Handb Clin Neurol
2018;155:191-203.
doi: 10.1016/B978-0-444-64189-2.00012-3.
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Howell N,
Andrews RM,
Turnbull DM
J Med Genet
1999 Jun;36(6):425-36.
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Therapy
Deng R,
Medico-Salsench E,
Nikoncuk A,
Ramakrishnan R,
Lanko K,
Kühn NA,
van der Linde HC,
Lor-Zade S,
Albuainain F,
Shi Y,
Yousefi S,
Capo I,
van den Herik EM,
van Slegtenhorst M,
van Minkelen R,
Geeven G,
Mulder MT,
Ruijter GJG,
Lütjohann D,
Jacobs EH,
Houlden H,
Pagnamenta AT,
Metcalfe K,
Jackson A,
Banka S,
De Simone L,
Schwaede A,
Kuntz N,
Palculict TB,
Abbas S,
Umair M,
AlMuhaizea M,
Colak D,
AlQudairy H,
Alsagob M,
Pereira C,
Trunzo R,
Karageorgou V,
Bertoli-Avella AM,
Bauer P,
Bouman A,
Hoefsloot LH,
van Ham TJ,
Issa M,
Zaki MS,
Gleeson JG,
Willemsen R,
Kaya N,
Arold ST,
Maroofian R,
Sanderson LE,
Barakat TS
Acta Neuropathol
2023 Aug;146(2):353-368.
Epub 2023 Apr 29
doi: 10.1007/s00401-023-02579-9.
PMID: 37119330Free PMC Article
Saffari A,
Kellner M,
Jordan C,
Rosengarten H,
Mo A,
Zhang B,
Strelko O,
Neuser S,
Davis MY,
Yoshikura N,
Futamura N,
Takeuchi T,
Nabatame S,
Ishiura H,
Tsuji S,
Aldeen HS,
Cali E,
Rocca C,
Houlden H,
Efthymiou S,
Assmann B,
Yoon G,
Trombetta BA,
Kivisäkk P,
Eichler F,
Nan H,
Takiyama Y,
Tessa A,
Santorelli FM,
Sahin M,
Blackstone C,
Yang E,
Schüle R,
Ebrahimi-Fakhari D
Brain
2023 May 2;146(5):2003-2015.
doi: 10.1093/brain/awac391.
PMID: 36315648Free PMC Article
Guidubaldi A,
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Santorelli FM,
Silvestri G,
Petracca M,
Tessa A,
Bentivoglio AR
Mov Disord
2011 Feb 15;26(3):553-6.
Epub 2011 Mar 4
doi: 10.1002/mds.23552.
PMID: 21381113
Prognosis
Tábara LC,
Al-Salmi F,
Maroofian R,
Al-Futaisi AM,
Al-Murshedi F,
Kennedy J,
Day JO,
Courtin T,
Al-Khayat A,
Galedari H,
Mazaheri N,
Protasoni M,
Johnson M,
Leslie JS,
Salter CG,
Rawlins LE,
Fasham J,
Al-Maawali A,
Voutsina N,
Charles P,
Harrold L,
Keren B,
Kunji ERS,
Vona B,
Jelodar G,
Sedaghat A,
Shariati G,
Houlden H,
Crosby AH,
Prudent J,
Baple EL
Brain
2022 Sep 14;145(9):3095-3107.
doi: 10.1093/brain/awac123.
PMID: 35718349Free PMC Article
Bellad A,
Girimaji SC,
Muthusamy B
Neurol Sci
2021 Dec;42(12):5311-5319.
Epub 2021 Apr 21
doi: 10.1007/s10072-021-05262-7.
PMID: 33884525
Zech M,
Brunet T,
Škorvánek M,
Blaschek A,
Vill K,
Hanker B,
Hüning I,
Haň V,
Došekova P,
Gdovinová Z,
Alhaddad B,
Berutti R,
Strom TM,
Růžička E,
Kamsteeg EJ,
van der Smagt JJ,
Wagner M,
Jech R,
Winkelmann J
Parkinsonism Relat Disord
2020 Aug;77:70-75.
Epub 2020 Jun 29
doi: 10.1016/j.parkreldis.2020.06.027.
PMID: 32629324
Pareyson D,
Saveri P,
Sagnelli A,
Piscosquito G
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PMID: 25847151
Pearce DA
Hum Genet
1999 Jun;104(6):443-8.
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PMID: 10453730
Clinical prediction guides
Deng R,
Medico-Salsench E,
Nikoncuk A,
Ramakrishnan R,
Lanko K,
Kühn NA,
van der Linde HC,
Lor-Zade S,
Albuainain F,
Shi Y,
Yousefi S,
Capo I,
van den Herik EM,
van Slegtenhorst M,
van Minkelen R,
Geeven G,
Mulder MT,
Ruijter GJG,
Lütjohann D,
Jacobs EH,
Houlden H,
Pagnamenta AT,
Metcalfe K,
Jackson A,
Banka S,
De Simone L,
Schwaede A,
Kuntz N,
Palculict TB,
Abbas S,
Umair M,
AlMuhaizea M,
Colak D,
AlQudairy H,
Alsagob M,
Pereira C,
Trunzo R,
Karageorgou V,
Bertoli-Avella AM,
Bauer P,
Bouman A,
Hoefsloot LH,
van Ham TJ,
Issa M,
Zaki MS,
Gleeson JG,
Willemsen R,
Kaya N,
Arold ST,
Maroofian R,
Sanderson LE,
Barakat TS
Acta Neuropathol
2023 Aug;146(2):353-368.
Epub 2023 Apr 29
doi: 10.1007/s00401-023-02579-9.
PMID: 37119330Free PMC Article
Saffari A,
Kellner M,
Jordan C,
Rosengarten H,
Mo A,
Zhang B,
Strelko O,
Neuser S,
Davis MY,
Yoshikura N,
Futamura N,
Takeuchi T,
Nabatame S,
Ishiura H,
Tsuji S,
Aldeen HS,
Cali E,
Rocca C,
Houlden H,
Efthymiou S,
Assmann B,
Yoon G,
Trombetta BA,
Kivisäkk P,
Eichler F,
Nan H,
Takiyama Y,
Tessa A,
Santorelli FM,
Sahin M,
Blackstone C,
Yang E,
Schüle R,
Ebrahimi-Fakhari D
Brain
2023 May 2;146(5):2003-2015.
doi: 10.1093/brain/awac391.
PMID: 36315648Free PMC Article
Tábara LC,
Al-Salmi F,
Maroofian R,
Al-Futaisi AM,
Al-Murshedi F,
Kennedy J,
Day JO,
Courtin T,
Al-Khayat A,
Galedari H,
Mazaheri N,
Protasoni M,
Johnson M,
Leslie JS,
Salter CG,
Rawlins LE,
Fasham J,
Al-Maawali A,
Voutsina N,
Charles P,
Harrold L,
Keren B,
Kunji ERS,
Vona B,
Jelodar G,
Sedaghat A,
Shariati G,
Houlden H,
Crosby AH,
Prudent J,
Baple EL
Brain
2022 Sep 14;145(9):3095-3107.
doi: 10.1093/brain/awac123.
PMID: 35718349Free PMC Article
de Freitas JL,
Rezende Filho FM,
Sallum JMF,
França MC Jr,
Pedroso JL,
Barsottini OGP
J Neurol Sci
2020 Feb 15;409:116620.
Epub 2019 Dec 6
doi: 10.1016/j.jns.2019.116620.
PMID: 31865189
Battié MC,
Lazáry A,
Fairbank J,
Eisenstein S,
Heywood C,
Brayda-Bruno M,
Varga PP,
McCall I
Eur Spine J
2014 Jun;23 Suppl 3:S305-14.
Epub 2013 Jul 25
doi: 10.1007/s00586-013-2903-5.
PMID: 23884550