Etiology
Wirth T,
Clément G,
Delvallée C,
Bonnet C,
Bogdan T,
Iosif A,
Schalk A,
Chanson JB,
Pellerin D,
Brais B,
Roth V,
Wandzel M,
Fleury MC,
Piton A,
Calmels N,
Namer IJ,
Kremer S,
Tranchant C,
Renaud M,
Anheim M
Mov Disord
2023 Oct;38(10):1950-1956.
Epub 2023 Jul 20
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PMID: 37470282
Linares AJ,
Fogel BL
Curr Opin Neurol
2023 Aug 1;36(4):324-334.
Epub 2023 Jun 2
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PMID: 37382141Free PMC Article
Wilke C,
Pellerin D,
Mengel D,
Traschütz A,
Danzi MC,
Dicaire MJ,
Neumann M,
Lerche H,
Bender B,
Houlden H;
RFC1 study group,
Züchner S,
Schöls L,
Brais B,
Synofzik M
Brain
2023 Oct 3;146(10):4144-4157.
doi: 10.1093/brain/awad157.
PMID: 37165652
Storey E
Semin Neurol
2014 Jul;34(3):280-92.
Epub 2014 Sep 5
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PMID: 25192506
Donato SD,
Mariotti C,
Taroni F
Handb Clin Neurol
2012;103:399-421.
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Diagnosis
Wirth T,
Clément G,
Delvallée C,
Bonnet C,
Bogdan T,
Iosif A,
Schalk A,
Chanson JB,
Pellerin D,
Brais B,
Roth V,
Wandzel M,
Fleury MC,
Piton A,
Calmels N,
Namer IJ,
Kremer S,
Tranchant C,
Renaud M,
Anheim M
Mov Disord
2023 Oct;38(10):1950-1956.
Epub 2023 Jul 20
doi: 10.1002/mds.29560.
PMID: 37470282
Linares AJ,
Fogel BL
Curr Opin Neurol
2023 Aug 1;36(4):324-334.
Epub 2023 Jun 2
doi: 10.1097/WCO.0000000000001170.
PMID: 37382141Free PMC Article
Pellerin D,
Danzi MC,
Wilke C,
Renaud M,
Fazal S,
Dicaire MJ,
Scriba CK,
Ashton C,
Yanick C,
Beijer D,
Rebelo A,
Rocca C,
Jaunmuktane Z,
Sonnen JA,
Larivière R,
Genís D,
Molina Porcel L,
Choquet K,
Sakalla R,
Provost S,
Robertson R,
Allard-Chamard X,
Tétreault M,
Reiling SJ,
Nagy S,
Nishadham V,
Purushottam M,
Vengalil S,
Bardhan M,
Nalini A,
Chen Z,
Mathieu J,
Massie R,
Chalk CH,
Lafontaine AL,
Evoy F,
Rioux MF,
Ragoussis J,
Boycott KM,
Dubé MP,
Duquette A,
Houlden H,
Ravenscroft G,
Laing NG,
Lamont PJ,
Saporta MA,
Schüle R,
Schöls L,
La Piana R,
Synofzik M,
Zuchner S,
Brais B
N Engl J Med
2023 Jan 12;388(2):128-141.
Epub 2022 Dec 14
doi: 10.1056/NEJMoa2207406.
PMID: 36516086Free PMC Article
Storey E
Semin Neurol
2014 Jul;34(3):280-92.
Epub 2014 Sep 5
doi: 10.1055/s-0034-1386766.
PMID: 25192506
Donato SD,
Mariotti C,
Taroni F
Handb Clin Neurol
2012;103:399-421.
doi: 10.1016/B978-0-444-51892-7.00025-5.
PMID: 21827903
Therapy
Rummey C,
Corben LA,
Delatycki M,
Wilmot G,
Subramony SH,
Corti M,
Bushara K,
Duquette A,
Gomez C,
Hoyle JC,
Roxburgh R,
Seeberger L,
Yoon G,
Mathews K,
Zesiewicz T,
Perlman S,
Lynch DR
Neurology
2022 Oct 3;99(14):e1499-e1510.
doi: 10.1212/WNL.0000000000200913.
PMID: 35817567Free PMC Article
Reetz K,
Dogan I,
Hilgers RD,
Giunti P,
Parkinson MH,
Mariotti C,
Nanetti L,
Durr A,
Ewenczyk C,
Boesch S,
Nachbauer W,
Klopstock T,
Stendel C,
Rodríguez de Rivera Garrido FJ,
Rummey C,
Schöls L,
Hayer SN,
Klockgether T,
Giordano I,
Didszun C,
Rai M,
Pandolfo M,
Schulz JB;
EFACTS study group
Lancet Neurol
2021 May;20(5):362-372.
Epub 2021 Mar 23
doi: 10.1016/S1474-4422(21)00027-2.
PMID: 33770527
Koeppen AH,
Becker AB,
Feustel PJ,
Gelman BB,
Mazurkiewicz JE
J Neurol Sci
2016 Aug 15;367:171-6.
Epub 2016 Jun 4
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PMID: 27423584
Reetz K,
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Giunti P,
Parkinson MH,
Sweeney MG,
Mariotti C,
Panzeri M,
Nanetti L,
Arpa J,
Sanz-Gallego I,
Durr A,
Charles P,
Boesch S,
Nachbauer W,
Klopstock T,
Karin I,
Depondt C,
vom Hagen JM,
Schöls L,
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Klockgether T,
Bürk K,
Pandolfo M,
Schulz JB
Lancet Neurol
2015 Feb;14(2):174-82.
Epub 2015 Jan 5
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PMID: 25566998
Keiser MS,
Boudreau RL,
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Mol Ther
2014 Mar;22(3):588-595.
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Prognosis
Ando M,
Higuchi Y,
Yuan J,
Yoshimura A,
Kojima F,
Yamanishi Y,
Aso Y,
Izumi K,
Imada M,
Maki Y,
Nakagawa H,
Hobara T,
Noguchi Y,
Takei J,
Hiramatsu Y,
Nozuma S,
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Matsuura E,
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Ann Clin Transl Neurol
2024 Jan;11(1):96-104.
Epub 2023 Nov 2
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PMID: 37916889Free PMC Article
Koga S,
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Dompenciel M,
Dickson DW,
Wszolek ZK
Parkinsonism Relat Disord
2022 Dec;105:149-153.
Epub 2022 Nov 11
doi: 10.1016/j.parkreldis.2022.11.008.
PMID: 36396537
Palermo G,
Mazzucchi S,
Della Vecchia A,
Siciliano G,
Bonuccelli U,
Azuar C,
Ceravolo R,
Lista S,
Hampel H,
Baldacci F
Mol Neurobiol
2020 Nov;57(11):4667-4691.
Epub 2020 Aug 9
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PMID: 32772223
Aguiar P,
Pardo J,
Arias M,
Quintáns B,
Fernández-Prieto M,
Martínez-Regueiro R,
Pumar JM,
Silva-Rodríguez J,
Ruibal Á,
Sobrido MJ,
Cortés J
Mov Disord
2017 Feb;32(2):264-273.
Epub 2016 Nov 10
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PMID: 27862279
Brusse E,
Maat-Kievit JA,
van Swieten JC
Clin Genet
2007 Jan;71(1):12-24.
doi: 10.1111/j.1399-0004.2006.00722.x.
PMID: 17204042
Clinical prediction guides
Ando M,
Higuchi Y,
Yuan J,
Yoshimura A,
Kojima F,
Yamanishi Y,
Aso Y,
Izumi K,
Imada M,
Maki Y,
Nakagawa H,
Hobara T,
Noguchi Y,
Takei J,
Hiramatsu Y,
Nozuma S,
Sakiyama Y,
Hashiguchi A,
Matsuura E,
Okamoto Y,
Takashima H
Ann Clin Transl Neurol
2024 Jan;11(1):96-104.
Epub 2023 Nov 2
doi: 10.1002/acn3.51936.
PMID: 37916889Free PMC Article
Wirth T,
Clément G,
Delvallée C,
Bonnet C,
Bogdan T,
Iosif A,
Schalk A,
Chanson JB,
Pellerin D,
Brais B,
Roth V,
Wandzel M,
Fleury MC,
Piton A,
Calmels N,
Namer IJ,
Kremer S,
Tranchant C,
Renaud M,
Anheim M
Mov Disord
2023 Oct;38(10):1950-1956.
Epub 2023 Jul 20
doi: 10.1002/mds.29560.
PMID: 37470282
Wilke C,
Pellerin D,
Mengel D,
Traschütz A,
Danzi MC,
Dicaire MJ,
Neumann M,
Lerche H,
Bender B,
Houlden H;
RFC1 study group,
Züchner S,
Schöls L,
Brais B,
Synofzik M
Brain
2023 Oct 3;146(10):4144-4157.
doi: 10.1093/brain/awad157.
PMID: 37165652
Palermo G,
Mazzucchi S,
Della Vecchia A,
Siciliano G,
Bonuccelli U,
Azuar C,
Ceravolo R,
Lista S,
Hampel H,
Baldacci F
Mol Neurobiol
2020 Nov;57(11):4667-4691.
Epub 2020 Aug 9
doi: 10.1007/s12035-020-02035-9.
PMID: 32772223
Lecocq C,
Charles P,
Azulay JP,
Meissner W,
Rai M,
N'Guyen K,
Péréon Y,
Fabre N,
Robin E,
Courtois S,
Guyant-Maréchal L,
Zagnoli F,
Rudolf G,
Renaud M,
Sévin-Allouet M,
Lesne F,
Alaerts N,
Goizet C,
Calvas P,
Eusebio A,
Guissart C,
Derkinderen P,
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Brice A,
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Tranchant C,
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Mov Disord
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