Etiology
Xu L,
Wang Y,
Wang W,
Zhang R,
Zhao D,
Yun Y,
Liu F,
Zhao Y,
Yan C,
Lin P
J Med Genet
2024 Mar 21;61(4):325-331.
doi: 10.1136/jmg-2023-109485.
PMID: 37890998
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
Servelhere KR,
Rezende TJR,
de Lima FD,
de Brito MR,
de França Nunes RF,
Casseb RF,
Pedroso JL,
Barsottini OGP,
Cendes F,
França MC Jr
Mov Disord
2021 Jul;36(7):1644-1653.
Epub 2021 Feb 11
doi: 10.1002/mds.28519.
PMID: 33576112
Parodi L,
Fenu S,
Stevanin G,
Durr A
Rev Neurol (Paris)
2017 May;173(5):352-360.
Epub 2017 Apr 24
doi: 10.1016/j.neurol.2017.03.034.
PMID: 28449883
Faber I,
Servelhere KR,
Martinez AR,
D'Abreu A,
Lopes-Cendes I,
França MC Jr
Arq Neuropsiquiatr
2014 Mar;72(3):219-26.
doi: 10.1590/0004-282x20130248.
PMID: 24676440
Diagnosis
Lin X,
Jiang JY,
Hong DJ,
Lin KJ,
Li JJ,
Chen YJ,
Qiu YS,
Wang Z,
Liao YC,
Yang K,
Shi Y,
Wang MW,
Hsu SL,
Hong S,
Zeng YH,
Chen XC,
Wang N,
Lee YC,
Chen WJ
Mov Disord
2024 Jan;39(1):152-163.
Epub 2023 Nov 28
doi: 10.1002/mds.29664.
PMID: 38014483
Xu L,
Wang Y,
Wang W,
Zhang R,
Zhao D,
Yun Y,
Liu F,
Zhao Y,
Yan C,
Lin P
J Med Genet
2024 Mar 21;61(4):325-331.
doi: 10.1136/jmg-2023-109485.
PMID: 37890998
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
Parodi L,
Fenu S,
Stevanin G,
Durr A
Rev Neurol (Paris)
2017 May;173(5):352-360.
Epub 2017 Apr 24
doi: 10.1016/j.neurol.2017.03.034.
PMID: 28449883
Faber I,
Servelhere KR,
Martinez AR,
D'Abreu A,
Lopes-Cendes I,
França MC Jr
Arq Neuropsiquiatr
2014 Mar;72(3):219-26.
doi: 10.1590/0004-282x20130248.
PMID: 24676440
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
Deeken JF,
Cormier T,
Price DK,
Sissung TM,
Steinberg SM,
Tran K,
Liewehr DJ,
Dahut WL,
Miao X,
Figg WD
Pharmacogenomics J
2010 Jun;10(3):191-9.
Epub 2009 Dec 29
doi: 10.1038/tpj.2009.57.
PMID: 20038957Free PMC Article
Kang SY,
Lee MH,
Lee SK,
Sohn YH
Parkinsonism Relat Disord
2004 Oct;10(7):425-7.
doi: 10.1016/j.parkreldis.2004.05.003.
PMID: 15465400
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
Xing F,
Du J
Neurol Sci
2022 Aug;43(8):4989-4996.
Epub 2022 Mar 28
doi: 10.1007/s10072-022-05921-3.
PMID: 35348942
Xie F,
Chen S,
Liu P,
Chen X,
Luo W
J Hum Genet
2022 Mar;67(3):165-168.
Epub 2021 Sep 16
doi: 10.1038/s10038-021-00975-1.
PMID: 34526651
Rudenskaya GE,
Kadnikova VA,
Ryzhkova OP,
Bessonova LA,
Dadali EL,
Guseva DS,
Markova TV,
Khmelkova DN,
Polyakov AV
BMC Neurol
2020 Aug 3;20(1):290.
doi: 10.1186/s12883-020-01872-4.
PMID: 32746806Free PMC Article
Rydning SL,
Dudesek A,
Rimmele F,
Funke C,
Krüger S,
Biskup S,
Vigeland MD,
Hjorthaug HS,
Sejersted Y,
Tallaksen C,
Selmer KK,
Kamm C
Eur J Neurol
2018 Jul;25(7):943-e71.
Epub 2018 Apr 15
doi: 10.1111/ene.13625.
PMID: 29528531
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
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
Xing F,
Du J
Neurol Sci
2022 Aug;43(8):4989-4996.
Epub 2022 Mar 28
doi: 10.1007/s10072-022-05921-3.
PMID: 35348942
Xie F,
Chen S,
Liu P,
Chen X,
Luo W
J Hum Genet
2022 Mar;67(3):165-168.
Epub 2021 Sep 16
doi: 10.1038/s10038-021-00975-1.
PMID: 34526651
Parodi L,
Fenu S,
Stevanin G,
Durr A
Rev Neurol (Paris)
2017 May;173(5):352-360.
Epub 2017 Apr 24
doi: 10.1016/j.neurol.2017.03.034.
PMID: 28449883