Etiology
Nanetti L,
Magri S,
Fichera M,
Castaldo A,
Nigri A,
Pinardi C,
Mongelli A,
Sarro L,
Pareyson D,
Grisoli M,
Gellera C,
Di Bella D,
Mariotti C,
Taroni F
Mov Disord
2023 Apr;38(4):665-675.
Epub 2023 Feb 17
doi: 10.1002/mds.29352.
PMID: 36799493
Rossi M,
Hamed M,
Rodríguez-Antigüedad J,
Cornejo-Olivas M,
Breza M,
Lohmann K,
Klein C,
Rajalingam R,
Marras C,
van de Warrenburg BP
Mov Disord
2023 Mar;38(3):368-377.
Epub 2022 Nov 14
doi: 10.1002/mds.29278.
PMID: 36374860
Liang L,
Chen T,
Wu Y
Neurophysiol Clin
2016 Feb;46(1):27-34.
Epub 2016 Mar 2
doi: 10.1016/j.neucli.2015.12.006.
PMID: 26947625
Ruano L,
Melo C,
Silva MC,
Coutinho P
Neuroepidemiology
2014;42(3):174-83.
Epub 2014 Mar 5
doi: 10.1159/000358801.
PMID: 24603320
Sandoval N,
Platzer M,
Rosenthal A,
Dörk T,
Bendix R,
Skawran B,
Stuhrmann M,
Wegner RD,
Sperling K,
Banin S,
Shiloh Y,
Baumer A,
Bernthaler U,
Sennefelder H,
Brohm M,
Weber BH,
Schindler D
Hum Mol Genet
1999 Jan;8(1):69-79.
doi: 10.1093/hmg/8.1.69.
PMID: 9887333
Diagnosis
Tolonen JP,
Parolin Schnekenberg R,
McGowan S,
Sims D,
McEntagart M,
Elmslie F,
Shears D,
Stewart H,
Tofaris GK,
Dabir T,
Morrison PJ,
Johnson D,
Hadjivassiliou M,
Ellard S,
Shaw-Smith C,
Znaczko A,
Dixit A,
Suri M,
Sarkar A,
Harrison RE,
Jones G,
Houlden H,
Ceravolo G,
Jarvis J,
Williams J,
Shanks ME,
Clouston P,
Rankin J,
Blumkin L,
Lerman-Sagie T,
Ponger P,
Raskin S,
Granath K,
Uusimaa J,
Conti H,
McCann E,
Joss S,
Blakes AJM,
Metcalfe K,
Kingston H,
Bertoli M,
Kneen R,
Lynch SA,
Martínez Albaladejo I,
Moore AP,
Jones WD;
Genomics England Research Consortium,
Becker EBE,
Németh AH
Mov Disord
2024 Jan;39(1):141-151.
Epub 2023 Nov 14
doi: 10.1002/mds.29651.
PMID: 37964426Free PMC Article
Nanetti L,
Magri S,
Fichera M,
Castaldo A,
Nigri A,
Pinardi C,
Mongelli A,
Sarro L,
Pareyson D,
Grisoli M,
Gellera C,
Di Bella D,
Mariotti C,
Taroni F
Mov Disord
2023 Apr;38(4):665-675.
Epub 2023 Feb 17
doi: 10.1002/mds.29352.
PMID: 36799493
Alyasin S,
Esmaeilzadeh H,
Ebrahimi N,
Nabavizadeh SH,
Nemati H
Arch Iran Med
2019 Dec 1;22(12):682-686.
PMID: 31823618
Liang L,
Chen T,
Wu Y
Neurophysiol Clin
2016 Feb;46(1):27-34.
Epub 2016 Mar 2
doi: 10.1016/j.neucli.2015.12.006.
PMID: 26947625
Ruano L,
Melo C,
Silva MC,
Coutinho P
Neuroepidemiology
2014;42(3):174-83.
Epub 2014 Mar 5
doi: 10.1159/000358801.
PMID: 24603320
Therapy
Coarelli G,
Dubec-Fleury C,
Petit E,
Sayah S,
Fischer C,
Nassisi M,
Gatignol P,
Dorgham K,
Daghsen L,
Daye P,
Cunha P,
Kacher R,
Hilab R,
Hurmic H,
Lamazière A,
Lamy JC,
Welter ML,
Chupin M,
Mangin JF,
Lane R,
Gaymard B,
Pouget P,
Audo I,
Brice A,
Tezenas du Montcel S,
Durr A
Neurology
2024 Sep 10;103(5):e209749.
Epub 2024 Aug 12
doi: 10.1212/WNL.0000000000209749.
PMID: 39133883Free PMC Article
Qiu M,
Wang R,
Shen Y,
Hu Z,
Zhang Y
Cerebellum
2024 Aug;23(4):1604-1613.
Epub 2023 Nov 17
doi: 10.1007/s12311-023-01628-z.
PMID: 37975968
Rossi M,
Hamed M,
Rodríguez-Antigüedad J,
Cornejo-Olivas M,
Breza M,
Lohmann K,
Klein C,
Rajalingam R,
Marras C,
van de Warrenburg BP
Mov Disord
2023 Mar;38(3):368-377.
Epub 2022 Nov 14
doi: 10.1002/mds.29278.
PMID: 36374860
Finkel RS,
Chiriboga CA,
Vajsar J,
Day JW,
Montes J,
De Vivo DC,
Bishop KM,
Foster R,
Liu Y,
Ramirez-Schrempp D,
Schneider E,
Bennett CF,
Wong J,
Farwell W
Lancet Child Adolesc Health
2021 Jul;5(7):491-500.
Epub 2021 Jun 3
doi: 10.1016/S2352-4642(21)00100-0.
PMID: 34089650
Diallo A,
Jacobi H,
Tezenas du Montcel S,
Klockgether T
J Neurol
2021 Aug;268(8):2749-2756.
Epub 2020 Apr 7
doi: 10.1007/s00415-020-09815-2.
PMID: 32266540
Prognosis
Nanetti L,
Magri S,
Fichera M,
Castaldo A,
Nigri A,
Pinardi C,
Mongelli A,
Sarro L,
Pareyson D,
Grisoli M,
Gellera C,
Di Bella D,
Mariotti C,
Taroni F
Mov Disord
2023 Apr;38(4):665-675.
Epub 2023 Feb 17
doi: 10.1002/mds.29352.
PMID: 36799493
Faber J,
Schaprian T,
Berkan K,
Reetz K,
França MC Jr,
de Rezende TJR,
Hong J,
Liao W,
van de Warrenburg B,
van Gaalen J,
Durr A,
Mochel F,
Giunti P,
Garcia-Moreno H,
Schoels L,
Hengel H,
Synofzik M,
Bender B,
Oz G,
Joers J,
de Vries JJ,
Kang JS,
Timmann-Braun D,
Jacobi H,
Infante J,
Joules R,
Romanzetti S,
Diedrichsen J,
Schmid M,
Wolz R,
Klockgether T
Mov Disord
2021 Oct;36(10):2273-2281.
Epub 2021 May 5
doi: 10.1002/mds.28610.
PMID: 33951232Free PMC Article
Stezin A,
Venkatesh SD,
Thennarasu K,
Purushottam M,
Jain S,
Yadav R,
Pal PK
J Neurol Sci
2018 Nov 15;394:14-18.
Epub 2018 Sep 1
doi: 10.1016/j.jns.2018.08.024.
PMID: 30196130
Bhatt JM,
Bush A,
van Gerven M,
Nissenkorn A,
Renke M,
Yarlett L,
Taylor M,
Tonia T,
Warris A,
Zielen S,
Zinna S,
Merkus PJ;
European Respiratory Society
Eur Respir Rev
2015 Dec;24(138):565-81.
doi: 10.1183/16000617.0066-2015.
PMID: 26621971Free PMC Article
Schmitz-Hübsch T,
Coudert M,
Bauer P,
Giunti P,
Globas C,
Baliko L,
Filla A,
Mariotti C,
Rakowicz M,
Charles P,
Ribai P,
Szymanski S,
Infante J,
van de Warrenburg BP,
Dürr A,
Timmann D,
Boesch S,
Fancellu R,
Rola R,
Depondt C,
Schöls L,
Zdienicka E,
Kang JS,
Döhlinger S,
Kremer B,
Stephenson DA,
Melegh B,
Pandolfo M,
di Donato S,
du Montcel ST,
Klockgether T
Neurology
2008 Sep 23;71(13):982-9.
Epub 2008 Aug 6
doi: 10.1212/01.wnl.0000325057.33666.72.
PMID: 18685131
Clinical prediction guides
Nanetti L,
Magri S,
Fichera M,
Castaldo A,
Nigri A,
Pinardi C,
Mongelli A,
Sarro L,
Pareyson D,
Grisoli M,
Gellera C,
Di Bella D,
Mariotti C,
Taroni F
Mov Disord
2023 Apr;38(4):665-675.
Epub 2023 Feb 17
doi: 10.1002/mds.29352.
PMID: 36799493
Finkel RS,
Chiriboga CA,
Vajsar J,
Day JW,
Montes J,
De Vivo DC,
Bishop KM,
Foster R,
Liu Y,
Ramirez-Schrempp D,
Schneider E,
Bennett CF,
Wong J,
Farwell W
Lancet Child Adolesc Health
2021 Jul;5(7):491-500.
Epub 2021 Jun 3
doi: 10.1016/S2352-4642(21)00100-0.
PMID: 34089650
Alyasin S,
Esmaeilzadeh H,
Ebrahimi N,
Nabavizadeh SH,
Nemati H
Arch Iran Med
2019 Dec 1;22(12):682-686.
PMID: 31823618
Teive HAG,
Camargo CHF,
Munhoz RP
Parkinsonism Relat Disord
2018 Jan;46:3-8.
Epub 2017 Dec 12
doi: 10.1016/j.parkreldis.2017.12.009.
PMID: 29249681
Sandoval N,
Platzer M,
Rosenthal A,
Dörk T,
Bendix R,
Skawran B,
Stuhrmann M,
Wegner RD,
Sperling K,
Banin S,
Shiloh Y,
Baumer A,
Bernthaler U,
Sennefelder H,
Brohm M,
Weber BH,
Schindler D
Hum Mol Genet
1999 Jan;8(1):69-79.
doi: 10.1093/hmg/8.1.69.
PMID: 9887333