Etiology
Kilic MA,
Yildiz EP,
Deniz A,
Coskun O,
Kurekci F,
Avci R,
Genc HM,
Yesil G,
Akbas S,
Yesilyurt A,
Kara B
Pediatr Neurol
2024 Mar;152:189-195.
Epub 2024 Jan 6
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PMID: 38301322
Méreaux JL,
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Pellerin D,
Coarelli G,
Coutelier M,
Ewenczyk C,
Monin ML,
Anheim M,
Le Ber I,
Thobois S,
Gobert F,
Guillot-Noël L,
Forlani S,
Jornea L,
Heinzmann A,
Sangare A,
Gaymard B,
Guyant-Maréchal L,
Charles P,
Marelli C,
Honnorat J,
Degos B,
Tison F,
Sangla S,
Simonetta-Moreau M,
Salachas F,
Tchikviladzé M,
Castelnovo G,
Mochel F,
Klebe S,
Castrioto A,
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Méneret A,
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Wandzel M,
Roth V,
Bonnet C,
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Stevanin G,
Noël S,
Fauret-Amsellem AL,
Bahlo M,
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Renaud M,
Brice A,
Durr A
EBioMedicine
2024 Jan;99:104931.
Epub 2023 Dec 27
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PMID: 38150853Free 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,
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Clinics (Sao Paulo)
2023;78:100128.
Epub 2022 Dec 3
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PMID: 36473366Free PMC Article
Fereshtehnejad SM,
Saleh PA,
Oliveira LM,
Patel N,
Bhowmick S,
Saranza G,
Kalia LV
Neurol Sci
2023 Mar;44(3):947-959.
Epub 2022 Nov 28
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PMID: 36441344Free PMC Article
Cubillos-Arcila DM,
Machado GD,
Sehnem L,
Burguêz D,
Zanardi APJ,
Martins VF,
Peyré-Tartaruga LA,
Saute JAM
Cerebellum
2022 Jun;21(3):350-357.
Epub 2021 Jul 9
doi: 10.1007/s12311-021-01302-2.
PMID: 34244902
Diagnosis
Méreaux JL,
Davoine CS,
Pellerin D,
Coarelli G,
Coutelier M,
Ewenczyk C,
Monin ML,
Anheim M,
Le Ber I,
Thobois S,
Gobert F,
Guillot-Noël L,
Forlani S,
Jornea L,
Heinzmann A,
Sangare A,
Gaymard B,
Guyant-Maréchal L,
Charles P,
Marelli C,
Honnorat J,
Degos B,
Tison F,
Sangla S,
Simonetta-Moreau M,
Salachas F,
Tchikviladzé M,
Castelnovo G,
Mochel F,
Klebe S,
Castrioto A,
Fenu S,
Méneret A,
Bourdain F,
Wandzel M,
Roth V,
Bonnet C,
Riant F,
Stevanin G,
Noël S,
Fauret-Amsellem AL,
Bahlo M,
Lockhart PJ,
Brais B,
Renaud M,
Brice A,
Durr A
EBioMedicine
2024 Jan;99:104931.
Epub 2023 Dec 27
doi: 10.1016/j.ebiom.2023.104931.
PMID: 38150853Free PMC Article
Siow SF,
Yeow D,
Rudaks LI,
Jia F,
Wali G,
Sue CM,
Kumar KR
Genes (Basel)
2023 Sep 3;14(9)
doi: 10.3390/genes14091756.
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.
Epub 2022 Aug 29
doi: 10.1002/mds.29199.
PMID: 36054444
Méreaux JL,
Banneau G,
Papin M,
Coarelli G,
Valter R,
Raymond L,
Kol B,
Ariste O,
Parodi L,
Tissier L,
Mairey M,
Ait Said S,
Gautier C,
Guillaud-Bataille M;
French SPATAX clinical network,
Forlani S,
de la Grange P,
Brice A,
Vazza G,
Durr A,
Leguern E,
Stevanin G
Brain
2022 Apr 29;145(3):1029-1037.
doi: 10.1093/brain/awab386.
PMID: 34983064
Therapy
Diniz de Lima F,
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Bittar MFR,
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Piovesana LG,
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Benaglia T,
de Sá Carvalho B,
Nucci A,
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Mov Disord
2021 Jul;36(7):1654-1663.
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PMID: 33595142
van de Venis L,
van de Warrenburg BPC,
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Nonnekes J
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PMID: 33413555Free PMC Article
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Brain
2017 Dec 1;140(12):3112-3127.
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PMID: 29126212Free PMC Article
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Themistocleous M,
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Dev Med Child Neurol
2003 Dec;45(12):829-32.
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PMID: 14667075
Prognosis
Mahungu AC,
Monnakgotla N,
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Heckmann JM
Orphanet J Rare Dis
2022 Mar 24;17(1):133.
doi: 10.1186/s13023-022-02280-2.
PMID: 35331287Free PMC Article
Méreaux JL,
Banneau G,
Papin M,
Coarelli G,
Valter R,
Raymond L,
Kol B,
Ariste O,
Parodi L,
Tissier L,
Mairey M,
Ait Said S,
Gautier C,
Guillaud-Bataille M;
French SPATAX clinical network,
Forlani S,
de la Grange P,
Brice A,
Vazza G,
Durr A,
Leguern E,
Stevanin G
Brain
2022 Apr 29;145(3):1029-1037.
doi: 10.1093/brain/awab386.
PMID: 34983064
Cubillos-Arcila DM,
Machado GD,
Sehnem L,
Burguêz D,
Zanardi APJ,
Martins VF,
Peyré-Tartaruga LA,
Saute JAM
Cerebellum
2022 Jun;21(3):350-357.
Epub 2021 Jul 9
doi: 10.1007/s12311-021-01302-2.
PMID: 34244902
Orsucci D,
Petrucci L,
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Chico L,
Simi P,
Fogli A,
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Neurosciences (Riyadh)
2012 Jan;17(1):48-52.
PMID: 22246010
Clinical prediction guides
Kilic MA,
Yildiz EP,
Deniz A,
Coskun O,
Kurekci F,
Avci R,
Genc HM,
Yesil G,
Akbas S,
Yesilyurt A,
Kara B
Pediatr Neurol
2024 Mar;152:189-195.
Epub 2024 Jan 6
doi: 10.1016/j.pediatrneurol.2024.01.005.
PMID: 38301322
Méreaux JL,
Davoine CS,
Pellerin D,
Coarelli G,
Coutelier M,
Ewenczyk C,
Monin ML,
Anheim M,
Le Ber I,
Thobois S,
Gobert F,
Guillot-Noël L,
Forlani S,
Jornea L,
Heinzmann A,
Sangare A,
Gaymard B,
Guyant-Maréchal L,
Charles P,
Marelli C,
Honnorat J,
Degos B,
Tison F,
Sangla S,
Simonetta-Moreau M,
Salachas F,
Tchikviladzé M,
Castelnovo G,
Mochel F,
Klebe S,
Castrioto A,
Fenu S,
Méneret A,
Bourdain F,
Wandzel M,
Roth V,
Bonnet C,
Riant F,
Stevanin G,
Noël S,
Fauret-Amsellem AL,
Bahlo M,
Lockhart PJ,
Brais B,
Renaud M,
Brice A,
Durr A
EBioMedicine
2024 Jan;99:104931.
Epub 2023 Dec 27
doi: 10.1016/j.ebiom.2023.104931.
PMID: 38150853Free 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.
Epub 2022 Aug 29
doi: 10.1002/mds.29199.
PMID: 36054444
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
Méreaux JL,
Banneau G,
Papin M,
Coarelli G,
Valter R,
Raymond L,
Kol B,
Ariste O,
Parodi L,
Tissier L,
Mairey M,
Ait Said S,
Gautier C,
Guillaud-Bataille M;
French SPATAX clinical network,
Forlani S,
de la Grange P,
Brice A,
Vazza G,
Durr A,
Leguern E,
Stevanin G
Brain
2022 Apr 29;145(3):1029-1037.
doi: 10.1093/brain/awab386.
PMID: 34983064