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.
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PMID: 35718349Free PMC Article
Klebe S,
Stevanin G,
Depienne C
Rev Neurol (Paris)
2015 Jun-Jul;171(6-7):505-30.
Epub 2015 May 23
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PMID: 26008818
Astudillo L,
Sabourdy F,
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Bode H,
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Andrieu-Abadie N,
Hornemann T,
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J Inherit Metab Dis
2015 Jan;38(1):65-76.
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Auer-Grumbach M,
Stevanin G
J Neurol Sci
2012 Jul 15;318(1-2):1-18.
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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.
PMID: 29891058
Finsterer J,
Löscher W,
Quasthoff S,
Wanschitz J,
Auer-Grumbach M,
Stevanin G
J Neurol Sci
2012 Jul 15;318(1-2):1-18.
Epub 2012 May 1
doi: 10.1016/j.jns.2012.03.025.
PMID: 22554690
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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Silvestri G,
Petracca M,
Tessa A,
Bentivoglio AR
Mov Disord
2011 Feb 15;26(3):553-6.
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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,
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Jech R,
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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
Neurosci Lett
2015 Jun 2;596:66-77.
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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
Utz KS,
Kohl Z,
Marterstock DC,
Doerfler A,
Winkler J,
Schmidt M,
Regensburger M
Orphanet J Rare Dis
2022 Jul 29;17(1):301.
doi: 10.1186/s13023-022-02451-1.
PMID: 35906604Free 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
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
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PMID: 23884550