Etiology
Dehnavi AZ,
Bemanalizadeh M,
Kahani SM,
Ashrafi MR,
Rohani M,
Toosi MB,
Heidari M,
Hosseinpour S,
Amini B,
Zokaei S,
Rezaei Z,
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Amanat M,
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Tavasoli AR
Orphanet J Rare Dis
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Deng X,
Yuan L,
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Deng H
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Hanna Al-Shaikh R,
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Holla VV,
Kurihara K,
Yadav R,
Kamble N,
Muthusamy B,
Bellad A,
Koziorowski D,
Szlufik S,
Hoffman-Zacharska D,
Fujioka S,
Tsuboi Y,
Ross OA,
Wierenga K,
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Wszolek Z,
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Parkinsonism Relat Disord
2022 Aug;101:66-74.
Epub 2022 Jun 30
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PMID: 35803092
Darling A,
Aguilera-Albesa S,
Tello CA,
Serrano M,
Tomás M,
Camino-León R,
Fernández-Ramos J,
Jiménez-Escrig A,
Poó P,
O'Callaghan M,
Ortez C,
Nascimento A,
Fernández Mesaque RC,
Madruga M,
Arrabal L,
Roldan S,
Gómez-Martín H,
Garrido C,
Temudo T,
Jou-Muñoz C,
Muchart J,
Huisman TAGM,
Poretti A,
Lupo V,
Espinós C,
Pérez-Dueñas B
Parkinsonism Relat Disord
2019 Apr;61:179-186.
Epub 2018 Oct 13
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PMID: 30340910
Iodice A,
Spagnoli C,
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Frattini D,
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Fusco C
Brain Dev
2017 Feb;39(2):93-100.
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PMID: 27884548
Diagnosis
Wilson JL,
Gregory A,
Kurian MA,
Bushlin I,
Mochel F,
Emrick L,
Adang L;
BPAN Guideline Contributing Author Group,
Hogarth P,
Hayflick SJ
Dev Med Child Neurol
2021 Dec;63(12):1402-1409.
Epub 2021 Aug 4
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PMID: 34347296
Gitiaux C,
Kaminska A,
Boddaert N,
Barcia G,
Guéden S,
The Tich SN,
De Lonlay P,
Quijano-Roy S,
Hully M,
Péréon Y,
Desguerre I
Eur J Paediatr Neurol
2018 Sep;22(5):854-861.
Epub 2018 May 22
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PMID: 29859652
Iodice A,
Spagnoli C,
Salerno GG,
Frattini D,
Bertani G,
Bergonzini P,
Pisani F,
Fusco C
Brain Dev
2017 Feb;39(2):93-100.
Epub 2016 Nov 21
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PMID: 27884548
Romani M,
Kraoua I,
Micalizzi A,
Klaa H,
Benrhouma H,
Drissi C,
Turki I,
Castellana S,
Mazza T,
Valente EM,
Gouider-Khouja N
Eur J Neurol
2015 Jan;22(1):178-86.
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PMID: 25164370
Schipper HM
Biochim Biophys Acta
2012 Mar;1822(3):350-60.
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PMID: 21782937
Therapy
Chu YT,
Lin HY,
Chen PL,
Lin CH
BMC Neurol
2020 Mar 17;20(1):101.
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PMID: 32183746Free PMC Article
Huang MH,
Chiu YC,
Tsai CF
Clin Neuropharmacol
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PMID: 29916839
Prognosis
Dehnavi AZ,
Bemanalizadeh M,
Kahani SM,
Ashrafi MR,
Rohani M,
Toosi MB,
Heidari M,
Hosseinpour S,
Amini B,
Zokaei S,
Rezaei Z,
Aryan H,
Amanat M,
Vahidnezhad H,
Mohammadi P,
Garshasbi M,
Tavasoli AR
Orphanet J Rare Dis
2023 Jul 5;18(1):177.
doi: 10.1186/s13023-023-02780-9.
PMID: 37403138Free PMC Article
Xue J,
Ding DX,
Xu GY,
Wang PZ,
Ge YL,
Zhang JR,
Cheng XY,
Wang YM,
Jin H,
Luo SY,
Zheng YH,
Chen J,
Wang F,
Li D,
Mao CJ,
Li K,
Liu CF
Parkinsonism Relat Disord
2023 Jul;112:105477.
Epub 2023 Jun 1
doi: 10.1016/j.parkreldis.2023.105477.
PMID: 37285793
Darling A,
Aguilera-Albesa S,
Tello CA,
Serrano M,
Tomás M,
Camino-León R,
Fernández-Ramos J,
Jiménez-Escrig A,
Poó P,
O'Callaghan M,
Ortez C,
Nascimento A,
Fernández Mesaque RC,
Madruga M,
Arrabal L,
Roldan S,
Gómez-Martín H,
Garrido C,
Temudo T,
Jou-Muñoz C,
Muchart J,
Huisman TAGM,
Poretti A,
Lupo V,
Espinós C,
Pérez-Dueñas B
Parkinsonism Relat Disord
2019 Apr;61:179-186.
Epub 2018 Oct 13
doi: 10.1016/j.parkreldis.2018.10.013.
PMID: 30340910
Romani M,
Kraoua I,
Micalizzi A,
Klaa H,
Benrhouma H,
Drissi C,
Turki I,
Castellana S,
Mazza T,
Valente EM,
Gouider-Khouja N
Eur J Neurol
2015 Jan;22(1):178-86.
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PMID: 25164370
Zhang P,
Gao Z,
Jiang Y,
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Yang Y,
Xiong H,
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Bao X,
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Wu X,
Wu Y
Eur J Neurol
2013 Feb;20(2):322-30.
Epub 2012 Aug 31
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PMID: 22934738
Clinical prediction guides
Dehnavi AZ,
Bemanalizadeh M,
Kahani SM,
Ashrafi MR,
Rohani M,
Toosi MB,
Heidari M,
Hosseinpour S,
Amini B,
Zokaei S,
Rezaei Z,
Aryan H,
Amanat M,
Vahidnezhad H,
Mohammadi P,
Garshasbi M,
Tavasoli AR
Orphanet J Rare Dis
2023 Jul 5;18(1):177.
doi: 10.1186/s13023-023-02780-9.
PMID: 37403138Free PMC Article
Xue J,
Ding DX,
Xu GY,
Wang PZ,
Ge YL,
Zhang JR,
Cheng XY,
Wang YM,
Jin H,
Luo SY,
Zheng YH,
Chen J,
Wang F,
Li D,
Mao CJ,
Li K,
Liu CF
Parkinsonism Relat Disord
2023 Jul;112:105477.
Epub 2023 Jun 1
doi: 10.1016/j.parkreldis.2023.105477.
PMID: 37285793
Darling A,
Aguilera-Albesa S,
Tello CA,
Serrano M,
Tomás M,
Camino-León R,
Fernández-Ramos J,
Jiménez-Escrig A,
Poó P,
O'Callaghan M,
Ortez C,
Nascimento A,
Fernández Mesaque RC,
Madruga M,
Arrabal L,
Roldan S,
Gómez-Martín H,
Garrido C,
Temudo T,
Jou-Muñoz C,
Muchart J,
Huisman TAGM,
Poretti A,
Lupo V,
Espinós C,
Pérez-Dueñas B
Parkinsonism Relat Disord
2019 Apr;61:179-186.
Epub 2018 Oct 13
doi: 10.1016/j.parkreldis.2018.10.013.
PMID: 30340910
Gitiaux C,
Kaminska A,
Boddaert N,
Barcia G,
Guéden S,
The Tich SN,
De Lonlay P,
Quijano-Roy S,
Hully M,
Péréon Y,
Desguerre I
Eur J Paediatr Neurol
2018 Sep;22(5):854-861.
Epub 2018 May 22
doi: 10.1016/j.ejpn.2018.05.005.
PMID: 29859652
Romani M,
Kraoua I,
Micalizzi A,
Klaa H,
Benrhouma H,
Drissi C,
Turki I,
Castellana S,
Mazza T,
Valente EM,
Gouider-Khouja N
Eur J Neurol
2015 Jan;22(1):178-86.
Epub 2014 Aug 27
doi: 10.1111/ene.12552.
PMID: 25164370