Etiology
Olsen CG,
Busk ØL,
Holla ØL,
Tveten K,
Holmøy T,
Tysnes OB,
Høyer H
Amyotroph Lateral Scler Frontotemporal Degener
2024 Feb;25(1-2):177-187.
Epub 2024 Jan 23
doi: 10.1080/21678421.2023.2270705.
PMID: 37849306
Liu M,
Li B,
Wang X,
Li D,
Xie Z,
Li Y,
Gao Y,
Chen B,
Zhang H,
Wang Y,
Gao C
Ann Hum Genet
2023 Jul;87(4):158-165.
Epub 2023 Mar 10
doi: 10.1111/ahg.12503.
PMID: 36896784
Liao P,
Yuan Y,
Liu Z,
Hou X,
Li W,
Wen J,
Zhang K,
Jiao B,
Shen L,
Jiang H,
Guo J,
Tang B,
Zhang Z,
Hu Z,
Wang J
Transl Neurodegener
2022 Oct 26;11(1):46.
doi: 10.1186/s40035-022-00320-2.
PMID: 36284339Free PMC Article
Martínez-Rubio D,
Hinarejos I,
Sancho P,
Gorría-Redondo N,
Bernadó-Fonz R,
Tello C,
Marco-Marín C,
Martí-Carrera I,
Martínez-González MJ,
García-Ribes A,
Baviera-Muñoz R,
Sastre-Bataller I,
Martínez-Torres I,
Duat-Rodríguez A,
Janeiro P,
Moreno E,
Pías-Peleteiro L,
Gordo MO,
Ruiz-Gómez Á,
Muñoz E,
Martí MJ,
Sánchez-Monteagudo A,
Fuster C,
Andrés-Bordería A,
Pons RM,
Jesús-Maestre S,
Mir P,
Lupo V,
Pérez-Dueñas B,
Darling A,
Aguilera-Albesa S,
Espinós C
Int J Mol Sci
2022 Oct 6;23(19)
doi: 10.3390/ijms231911847.
PMID: 36233161Free PMC Article
Nicita F,
Ginevrino M,
Travaglini L,
D'Arrigo S,
Zorzi G,
Borgatti R,
Terrone G,
Catteruccia M,
Vasco G,
Brankovic V,
Siliquini S,
Romano S,
Veredice C,
Pedemonte M,
Armando M,
Lettori D,
Stregapede F,
Bosco L,
Sferra A,
Tessarollo V,
Romaniello R,
Ristori G,
Bertini E,
Valente EM,
Zanni G
J Med Genet
2021 Jul;58(7):475-483.
Epub 2020 Jul 31
doi: 10.1136/jmedgenet-2020-107007.
PMID: 32737135
Diagnosis
Olsen CG,
Busk ØL,
Holla ØL,
Tveten K,
Holmøy T,
Tysnes OB,
Høyer H
Amyotroph Lateral Scler Frontotemporal Degener
2024 Feb;25(1-2):177-187.
Epub 2024 Jan 23
doi: 10.1080/21678421.2023.2270705.
PMID: 37849306
Liu M,
Li B,
Wang X,
Li D,
Xie Z,
Li Y,
Gao Y,
Chen B,
Zhang H,
Wang Y,
Gao C
Ann Hum Genet
2023 Jul;87(4):158-165.
Epub 2023 Mar 10
doi: 10.1111/ahg.12503.
PMID: 36896784
Martínez-Rubio D,
Hinarejos I,
Sancho P,
Gorría-Redondo N,
Bernadó-Fonz R,
Tello C,
Marco-Marín C,
Martí-Carrera I,
Martínez-González MJ,
García-Ribes A,
Baviera-Muñoz R,
Sastre-Bataller I,
Martínez-Torres I,
Duat-Rodríguez A,
Janeiro P,
Moreno E,
Pías-Peleteiro L,
Gordo MO,
Ruiz-Gómez Á,
Muñoz E,
Martí MJ,
Sánchez-Monteagudo A,
Fuster C,
Andrés-Bordería A,
Pons RM,
Jesús-Maestre S,
Mir P,
Lupo V,
Pérez-Dueñas B,
Darling A,
Aguilera-Albesa S,
Espinós C
Int J Mol Sci
2022 Oct 6;23(19)
doi: 10.3390/ijms231911847.
PMID: 36233161Free PMC Article
Hsu SL,
Liao YC,
Lin KP,
Lin PY,
Yu KW,
Tsai YS,
Guo YC,
Lee YC
Parkinsonism Relat Disord
2022 Oct;103:144-149.
Epub 2022 Sep 16
doi: 10.1016/j.parkreldis.2022.09.001.
PMID: 36155026
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
Prognosis
Sudnawa KK,
Li W,
Calamia S,
Kanner CH,
Bain JM,
Abdelhakim AH,
Geltzeiler A,
Mebane CM,
Provenzano FA,
Sands TT,
Fee RJ,
Montes J,
Shen Y,
Chung WK
Genet Med
2024 Aug;26(8):101169.
Epub 2024 May 21
doi: 10.1016/j.gim.2024.101169.
PMID: 38785164Free PMC Article
Sakamoto M,
Iwama K,
Sasaki M,
Ishiyama A,
Komaki H,
Saito T,
Takeshita E,
Shimizu-Motohashi Y,
Haginoya K,
Kobayashi T,
Goto T,
Tsuyusaki Y,
Iai M,
Kurosawa K,
Osaka H,
Tohyama J,
Kobayashi Y,
Okamoto N,
Suzuki Y,
Kumada S,
Inoue K,
Mashimo H,
Arisaka A,
Kuki I,
Saijo H,
Yokochi K,
Kato M,
Inaba Y,
Gomi Y,
Saitoh S,
Shirai K,
Morimoto M,
Izumi Y,
Watanabe Y,
Nagamitsu SI,
Sakai Y,
Fukumura S,
Muramatsu K,
Ogata T,
Yamada K,
Ishigaki K,
Hirasawa K,
Shimoda K,
Akasaka M,
Kohashi K,
Sakakibara T,
Ikuno M,
Sugino N,
Yonekawa T,
Gürsoy S,
Cinleti T,
Kim CA,
Teik KW,
Yan CM,
Haniffa M,
Ohba C,
Ito S,
Saitsu H,
Saida K,
Tsuchida N,
Uchiyama Y,
Koshimizu E,
Fujita A,
Hamanaka K,
Misawa K,
Miyatake S,
Mizuguchi T,
Miyake N,
Matsumoto N
Genet Med
2022 Dec;24(12):2453-2463.
Epub 2022 Oct 28
doi: 10.1016/j.gim.2022.08.007.
PMID: 36305856
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
Rudenskaya GE,
Kadnikova VA,
Ryzhkova OP,
Bessonova LA,
Dadali EL,
Guseva DS,
Markova TV,
Khmelkova DN,
Polyakov AV
BMC Neurol
2020 Aug 3;20(1):290.
doi: 10.1186/s12883-020-01872-4.
PMID: 32746806Free PMC Article
Pareyson D,
Saveri P,
Sagnelli A,
Piscosquito G
Neurosci Lett
2015 Jun 2;596:66-77.
Epub 2015 Apr 3
doi: 10.1016/j.neulet.2015.04.001.
PMID: 25847151
Clinical prediction guides
Sudnawa KK,
Li W,
Calamia S,
Kanner CH,
Bain JM,
Abdelhakim AH,
Geltzeiler A,
Mebane CM,
Provenzano FA,
Sands TT,
Fee RJ,
Montes J,
Shen Y,
Chung WK
Genet Med
2024 Aug;26(8):101169.
Epub 2024 May 21
doi: 10.1016/j.gim.2024.101169.
PMID: 38785164Free PMC Article
Paprocka J,
Jezela-Stanek A,
Śmigiel R,
Walczak A,
Mierzewska H,
Kutkowska-Kaźmierczak A,
Płoski R,
Emich-Widera E,
Steinborn B
Genes (Basel)
2023 Apr 25;14(5)
doi: 10.3390/genes14050972.
PMID: 37239332Free PMC Article
Pyrpassopoulos S,
Gicking AM,
Zaniewski TM,
Hancock WO,
Ostap EM
Proc Natl Acad Sci U S A
2023 Jan 10;120(2):e2216903120.
Epub 2023 Jan 4
doi: 10.1073/pnas.2216903120.
PMID: 36598948Free 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
Ylikallio E,
Kim D,
Isohanni P,
Auranen M,
Kim E,
Lönnqvist T,
Tyynismaa H
Eur J Hum Genet
2015 Oct;23(10):1427-30.
Epub 2015 Jan 14
doi: 10.1038/ejhg.2014.297.
PMID: 25585697Free PMC Article