Etiology
Cao Y,
Zheng H,
Zhu Z,
Yao L,
Tian W,
Cao L
Mov Disord
2024 Apr;39(4):651-662.
Epub 2024 Jan 31
doi: 10.1002/mds.29728.
PMID: 38291924
Alkhalifa A,
Chen S,
Hasiloglu ZI,
Filosto M,
Cali E,
Houlden H,
Sgobbi de Souza P,
Alavi A,
Goizet C,
Stevanin G,
Taithe F,
Nicita F,
Vasco G,
Tozza S,
Cocozza S,
Carboni N,
Figus A,
Wu J,
Basak AN,
Brais B,
Rouleau G,
La Piana R
J Neurol
2023 Dec;270(12):5784-5792.
Epub 2023 Aug 14
doi: 10.1007/s00415-023-11918-5.
PMID: 37578488
Sadr Z,
Ghasemi A,
Rohani M,
Alavi A
Neuromuscul Disord
2023 Apr;33(4):295-301.
Epub 2023 Feb 8
doi: 10.1016/j.nmd.2023.02.001.
PMID: 36871412
Legrand A,
Pujol C,
Durand CM,
Mesnil A,
Rubera I,
Duranton C,
Zuily S,
Sousa AB,
Renaud M,
Boucher JL,
Pietrancosta N,
Adham S,
Orssaud C,
Marelli C,
Casali C,
Ziccardi L,
Villain N,
Ewenczyk C,
Durr A,
Mignot C,
Stevanin G,
Billon C,
Hureaux M,
Jeunemaitre X,
Goizet C,
Albuisson J
J Intern Med
2021 May;289(5):709-725.
Epub 2021 Mar 31
doi: 10.1111/joim.13193.
PMID: 33107650
Ruano L,
Melo C,
Silva MC,
Coutinho P
Neuroepidemiology
2014;42(3):174-83.
Epub 2014 Mar 5
doi: 10.1159/000358801.
PMID: 24603320
Diagnosis
Cao Y,
Zheng H,
Zhu Z,
Yao L,
Tian W,
Cao L
Mov Disord
2024 Apr;39(4):651-662.
Epub 2024 Jan 31
doi: 10.1002/mds.29728.
PMID: 38291924
Alkhalifa A,
Chen S,
Hasiloglu ZI,
Filosto M,
Cali E,
Houlden H,
Sgobbi de Souza P,
Alavi A,
Goizet C,
Stevanin G,
Taithe F,
Nicita F,
Vasco G,
Tozza S,
Cocozza S,
Carboni N,
Figus A,
Wu J,
Basak AN,
Brais B,
Rouleau G,
La Piana R
J Neurol
2023 Dec;270(12):5784-5792.
Epub 2023 Aug 14
doi: 10.1007/s00415-023-11918-5.
PMID: 37578488
Sadr Z,
Ghasemi A,
Rohani M,
Alavi A
Neuromuscul Disord
2023 Apr;33(4):295-301.
Epub 2023 Feb 8
doi: 10.1016/j.nmd.2023.02.001.
PMID: 36871412
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
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
van de Venis L,
van de Warrenburg B,
Weerdesteyn V,
Geurts ACH,
Nonnekes J
Neurorehabil Neural Repair
2023 Jan;37(1):27-36.
Epub 2023 Jan 25
doi: 10.1177/15459683221147839.
PMID: 36695288Free PMC Article
Faber I,
Martinez ARM,
Martins CR Jr,
Maia ML,
Souza JP,
Lourenço CM,
Marques W Jr,
Montecchiani C,
Orlacchio A,
Pedroso JL,
Barsottini OGP,
Ramos CD,
Lopes-Cendes Í,
Friedman JH,
Amorim BJ,
França MC Jr
Mov Disord
2018 Oct;33(10):1650-1656.
Epub 2018 Oct 10
doi: 10.1002/mds.27491.
PMID: 30306626
Pulido-Valdeolivas I,
Gómez-Andrés D,
Martín-Gonzalo JA,
Rodríguez-Andonaegui I,
López-López J,
Pascual-Pascual SI,
Rausell E
PLoS One
2018;13(3):e0192345.
Epub 2018 Mar 8
doi: 10.1371/journal.pone.0192345.
PMID: 29518090Free PMC Article
Schöls L,
Rattay TW,
Martus P,
Meisner C,
Baets J,
Fischer I,
Jägle C,
Fraidakis MJ,
Martinuzzi A,
Saute JA,
Scarlato M,
Antenora A,
Stendel C,
Höflinger P,
Lourenco CM,
Abreu L,
Smets K,
Paucar M,
Deconinck T,
Bis DM,
Wiethoff S,
Bauer P,
Arnoldi A,
Marques W,
Jardim LB,
Hauser S,
Criscuolo C,
Filla A,
Züchner S,
Bassi MT,
Klopstock T,
De Jonghe P,
Björkhem I,
Schüle R
Brain
2017 Dec 1;140(12):3112-3127.
doi: 10.1093/brain/awx273.
PMID: 29126212Free PMC Article
Geva-Dayan K,
Domenievitz D,
Zahalka R,
Fattal-Valevski A
J Child Neurol
2010 Aug;25(8):969-75.
Epub 2010 Apr 20
doi: 10.1177/0883073809356037.
PMID: 20406997
Prognosis
Rattay TW,
Völker M,
Rautenberg M,
Kessler C,
Wurster I,
Winter N,
Haack TB,
Lindig T,
Hengel H,
Synofzik M,
Schüle R,
Martus P,
Schöls L
Brain
2023 Mar 1;146(3):1093-1102.
doi: 10.1093/brain/awac155.
PMID: 35472722
Yang JO,
Yoon JY,
Sung DH,
Yun S,
Lee JJ,
Jun SY,
Halder D,
Jeon SJ,
Woo EJ,
Seok JM,
Cho JW,
Jang JH,
Choi JK,
Kim BJ,
Kim NS
Genomics
2021 Nov;113(6):4136-4148.
Epub 2021 Oct 27
doi: 10.1016/j.ygeno.2021.10.014.
PMID: 34715294
Pulido-Valdeolivas I,
Gómez-Andrés D,
Martín-Gonzalo JA,
Rodríguez-Andonaegui I,
López-López J,
Pascual-Pascual SI,
Rausell E
PLoS One
2018;13(3):e0192345.
Epub 2018 Mar 8
doi: 10.1371/journal.pone.0192345.
PMID: 29518090Free PMC Article
Du J,
Hu YC,
Tang BS,
Jiang H,
Shen L
Int J Neurosci
2018 Feb;128(2):146-150.
Epub 2017 Oct 5
doi: 10.1080/00207454.2017.1378878.
PMID: 28933964
Loureiro JL,
Brandão E,
Ruano L,
Brandão AF,
Lopes AM,
Thieleke-Matos C,
Miller-Fleming L,
Cruz VT,
Barbosa M,
Silveira I,
Stevanin G,
Pinto-Basto J,
Sequeiros J,
Alonso I,
Coutinho P
JAMA Neurol
2013 Apr;70(4):481-7.
doi: 10.1001/jamaneurol.2013.1956.
PMID: 23400676
Clinical prediction guides
Cao Y,
Zheng H,
Zhu Z,
Yao L,
Tian W,
Cao L
Mov Disord
2024 Apr;39(4):651-662.
Epub 2024 Jan 31
doi: 10.1002/mds.29728.
PMID: 38291924
Alkhalifa A,
Chen S,
Hasiloglu ZI,
Filosto M,
Cali E,
Houlden H,
Sgobbi de Souza P,
Alavi A,
Goizet C,
Stevanin G,
Taithe F,
Nicita F,
Vasco G,
Tozza S,
Cocozza S,
Carboni N,
Figus A,
Wu J,
Basak AN,
Brais B,
Rouleau G,
La Piana R
J Neurol
2023 Dec;270(12):5784-5792.
Epub 2023 Aug 14
doi: 10.1007/s00415-023-11918-5.
PMID: 37578488
Rattay TW,
Völker M,
Rautenberg M,
Kessler C,
Wurster I,
Winter N,
Haack TB,
Lindig T,
Hengel H,
Synofzik M,
Schüle R,
Martus P,
Schöls L
Brain
2023 Mar 1;146(3):1093-1102.
doi: 10.1093/brain/awac155.
PMID: 35472722
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
Yang JO,
Yoon JY,
Sung DH,
Yun S,
Lee JJ,
Jun SY,
Halder D,
Jeon SJ,
Woo EJ,
Seok JM,
Cho JW,
Jang JH,
Choi JK,
Kim BJ,
Kim NS
Genomics
2021 Nov;113(6):4136-4148.
Epub 2021 Oct 27
doi: 10.1016/j.ygeno.2021.10.014.
PMID: 34715294