Etiology
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
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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,
Olchik MR
Clinics (Sao Paulo)
2023;78:100128.
Epub 2022 Dec 3
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PMID: 36473366Free PMC Article
Neuser S,
Brechmann B,
Heimer G,
Brösse I,
Schubert S,
O'Grady L,
Zech M,
Srivastava S,
Sweetser DA,
Dincer Y,
Mall V,
Winkelmann J,
Behrends C,
Darras BT,
Graham RJ,
Jayakar P,
Byrne B,
Bar-Aluma BE,
Haberman Y,
Szeinberg A,
Aldhalaan HM,
Hashem M,
Al Tenaiji A,
Ismayl O,
Al Nuaimi AE,
Maher K,
Ibrahim S,
Khan F,
Houlden H,
Ramakumaran VS,
Pagnamenta AT,
Posey JE,
Lupski JR,
Tan WH,
ElGhazali G,
Herman I,
Muñoz T,
Repetto GM,
Seitz A,
Krumbiegel M,
Poli MC,
Kini U,
Efthymiou S,
Meiler J,
Maroofian R,
Alkuraya FS,
Abou Jamra R,
Popp B,
Ben-Zeev B,
Ebrahimi-Fakhari D
Hum Mutat
2021 Jun;42(6):762-776.
Epub 2021 May 11
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PMID: 33847017
Servelhere KR,
Casseb RF,
de Lima FD,
Rezende TJR,
Ramalho LP,
França MC Jr
AJNR Am J Neuroradiol
2021 Mar;42(3):610-615.
Epub 2021 Jan 21
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PMID: 33478946Free PMC Article
Murphy S,
Gorman G,
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Byrne P,
Dytko M,
McMonagle P,
Kinsella K,
Farrell M,
Hutchinson M
Neurology
2009 Aug 4;73(5):378-84.
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PMID: 19652142
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
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
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
Neuser S,
Brechmann B,
Heimer G,
Brösse I,
Schubert S,
O'Grady L,
Zech M,
Srivastava S,
Sweetser DA,
Dincer Y,
Mall V,
Winkelmann J,
Behrends C,
Darras BT,
Graham RJ,
Jayakar P,
Byrne B,
Bar-Aluma BE,
Haberman Y,
Szeinberg A,
Aldhalaan HM,
Hashem M,
Al Tenaiji A,
Ismayl O,
Al Nuaimi AE,
Maher K,
Ibrahim S,
Khan F,
Houlden H,
Ramakumaran VS,
Pagnamenta AT,
Posey JE,
Lupski JR,
Tan WH,
ElGhazali G,
Herman I,
Muñoz T,
Repetto GM,
Seitz A,
Krumbiegel M,
Poli MC,
Kini U,
Efthymiou S,
Meiler J,
Maroofian R,
Alkuraya FS,
Abou Jamra R,
Popp B,
Ben-Zeev B,
Ebrahimi-Fakhari D
Hum Mutat
2021 Jun;42(6):762-776.
Epub 2021 May 11
doi: 10.1002/humu.24206.
PMID: 33847017
Murphy S,
Gorman G,
Beetz C,
Byrne P,
Dytko M,
McMonagle P,
Kinsella K,
Farrell M,
Hutchinson M
Neurology
2009 Aug 4;73(5):378-84.
doi: 10.1212/WNL.0b013e3181b04c6c.
PMID: 19652142
Therapy
Diniz de Lima F,
Faber I,
Servelhere KR,
Bittar MFR,
Martinez ARM,
Piovesana LG,
Martins MP,
Martins CR Jr,
Benaglia T,
de Sá Carvalho B,
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Mov Disord
2021 Jul;36(7):1654-1663.
Epub 2021 Feb 17
doi: 10.1002/mds.28523.
PMID: 33595142
van de Venis L,
van de Warrenburg BPC,
Weerdesteyn V,
van Lith BJH,
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PMID: 33413555Free PMC Article
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Prognosis
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Coarelli G,
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Kol B,
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Parodi L,
Tissier L,
Mairey M,
Ait Said S,
Gautier C,
Guillaud-Bataille M;
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Forlani S,
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de la Grange P,
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Durr A,
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Brain
2022 Apr 29;145(3):1029-1037.
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PMID: 34983064
Servelhere KR,
Casseb RF,
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Rezende TJR,
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AJNR Am J Neuroradiol
2021 Mar;42(3):610-615.
Epub 2021 Jan 21
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PMID: 33478946Free PMC Article
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