Etiology
Morsy H,
Benkirane M,
Cali E,
Rocca C,
Zhelcheska K,
Cipriani V,
Galanaki E,
Maroofian R,
Efthymiou S,
Murphy D,
O'Driscoll M,
Suri M,
Banka S,
Clayton-Smith J,
Wright T,
Redman M,
Bassetti JA,
Nizon M,
Cogne B,
Jamra RA,
Bartolomaeus T,
Heruth M,
Krey I,
Gburek-Augustat J,
Wieczorek D,
Gattermann F,
Mcentagart M,
Goldenberg A,
Guyant-Marechal L,
Garcia-Moreno H,
Giunti P,
Chabrol B,
Bacrot S,
Buissonnière R,
Magry V,
Gowda VK,
Srinivasan VM,
Melegh B,
Szabó A,
Sümegi K,
Cossée M,
Ziff M,
Butterfield R,
Hunt D,
Bird-Lieberman G,
Hanna M,
Koenig M,
Stankewich M,
Vandrovcova J,
Houlden H;
Genomics England Research Consortium
Genet Med
2023 Jan;25(1):76-89.
Epub 2022 Nov 4
doi: 10.1016/j.gim.2022.09.013.
PMID: 36331550Free PMC Article
Van de Vondel L,
De Winter J,
Beijer D,
Coarelli G,
Wayand M,
Palvadeau R,
Pauly MG,
Klein K,
Rautenberg M,
Guillot-Noël L,
Deconinck T,
Vural A,
Ertan S,
Dogu O,
Uysal H,
Brankovic V,
Herzog R,
Brice A,
Durr A,
Klebe S,
Stock F,
Bischoff AT,
Rattay TW,
Sobrido MJ,
De Michele G,
De Jonghe P,
Klopstock T,
Lohmann K,
Zanni G,
Santorelli FM,
Timmerman V,
Haack TB,
Züchner S;
PREPARE Consortium,
Schüle R,
Stevanin G,
Synofzik M,
Basak AN,
Baets J
Mov Disord
2022 Jun;37(6):1175-1186.
Epub 2022 Feb 12
doi: 10.1002/mds.28959.
PMID: 35150594Free PMC Article
Ruano L,
Melo C,
Silva MC,
Coutinho P
Neuroepidemiology
2014;42(3):174-83.
Epub 2014 Mar 5
doi: 10.1159/000358801.
PMID: 24603320
Reid E
J Neurol
1999 Nov;246(11):995-1003.
doi: 10.1007/s004150050503.
PMID: 10631629
Reid E
J Med Genet
1997 Jun;34(6):499-503.
doi: 10.1136/jmg.34.6.499.
PMID: 9192272Free PMC Article
Diagnosis
Koch H,
Weber YG
Epilepsy Behav
2019 Feb;91:90-93.
Epub 2018 Jul 31
doi: 10.1016/j.yebeh.2018.06.010.
PMID: 30076047
Bunevicius A,
Tamasauskas A,
Ambrozaitis K
Emerg Med J
2018 May;35(5):315-316.
doi: 10.1136/emermed-2017-206830.
PMID: 29674381
Young BK
Adv Neurol
2002;90:271-6.
PMID: 12068458
Bewes P
Trop Doct
2001 Oct;31(4):237-40.
doi: 10.1177/004947550103100429.
PMID: 11676073
Karlsson AK
Spinal Cord
1999 Jun;37(6):383-91.
doi: 10.1038/sj.sc.3100867.
PMID: 10432257
Therapy
Chen X,
Dong T,
Hu Y,
De Pace R,
Mattera R,
Eberhardt K,
Ziegler M,
Pirovolakis T,
Sahin M,
Bonifacino JS,
Ebrahimi-Fakhari D,
Gray SJ
J Clin Invest
2023 May 15;133(10)
doi: 10.1172/JCI164575.
PMID: 36951961Free PMC Article
Cheng Z,
Xu J,
Guo Y
Heart Surg Forum
2021 May 25;24(3):E487-E492.
doi: 10.1532/hsf.3731.
PMID: 34173757
Godet G,
Bertrand M,
Fléron MH,
Goarin JP,
Colson P,
Cardon A,
Koskas F,
Verhoye JP,
Kieffer E
Asian Cardiovasc Thorac Ann
2017 Nov;25(9):608-617.
Epub 2017 Oct 23
doi: 10.1177/0218492317739472.
PMID: 29058970
Ali S
Neurology
2016 Jan 5;86(1):106-7.
doi: 10.1212/WNL.0000000000002243.
PMID: 26712831
Mulroy SJ,
Thompson L,
Kemp B,
Hatchett PP,
Newsam CJ,
Lupold DG,
Haubert LL,
Eberly V,
Ge TT,
Azen SP,
Winstein CJ,
Gordon J;
Physical Therapy Clinical Research Network (PTClinResNet)
Phys Ther
2011 Mar;91(3):305-24.
Epub 2011 Feb 3
doi: 10.2522/ptj.20100182.
PMID: 21292803
Prognosis
Saffari A,
Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
Sedighzadeh S,
Siu VM,
Ortigoza-Escobar JD,
AlShamsi AM,
Ibrahim S,
Al-Sannaa NA,
Al-Hertani W,
Sandra W,
Tarnopolsky M,
Alavi S,
Li C,
Day-Salvatore DL,
Martínez-González MJ,
Levandoski KM,
Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
Shahrooei M,
Ghavideldarestani M,
Herman I,
Rendu J,
Faure J,
Baker J,
Bhambhani V,
Calderwood L,
Akhondian J,
Imannezhad S,
Mirzadeh HS,
Hashemi N,
Doosti M,
Safi M,
Ahangari N,
Torbati PN,
Abedini S,
Salpietro V,
Gulec EY,
Eshaghian S,
Ghazavi M,
Pascher MT,
Vogel M,
Abicht A,
Moutton S,
Bruel AL,
Rieubland C,
Gallati S,
Strom TM,
Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
Berger SI,
Andrew EH,
Rahimian E,
Morrow MM,
Wentzensen IM,
Millan F,
Henderson LB,
Dafsari HS,
Jungbluth H,
Gomez-Ospina N,
McRae A,
Peter M,
Veltra D,
Marinakis NM,
Sofocleous C,
Ashrafzadeh F,
Pehlivan D,
Lemke JR,
Melki J,
Benezit A,
Bauer P,
Weis D,
Lupski JR,
Senderek J,
Christodoulou J,
Chung WK,
Goodchild R,
Offiah AC,
Moreno-De-Luca A,
Suri M,
Ebrahimi-Fakhari D,
Houlden H,
Maroofian R
Brain
2023 Aug 1;146(8):3273-3288.
doi: 10.1093/brain/awad039.
PMID: 36757831Free PMC Article
Cheng Z,
Xu J,
Guo Y
Heart Surg Forum
2021 May 25;24(3):E487-E492.
doi: 10.1532/hsf.3731.
PMID: 34173757
Valkanas E,
Schaffer K,
Dunham C,
Maduro V,
du Souich C,
Rupps R,
Adams DR,
Baradaran-Heravi A,
Flynn E,
Malicdan MC,
Gahl WA,
Toro C,
Boerkoel CF
Am J Med Genet A
2016 Dec;170(12):3106-3114.
Epub 2016 Aug 11
doi: 10.1002/ajmg.a.37929.
PMID: 27513830Free PMC Article
Elegbe O,
Wickremaratchi M,
Hinchcliffe M
Acute Med
2011;10(1):40-4.
PMID: 21573266
Dobyns WB,
Ozelius LJ,
Kramer PL,
Brashear A,
Farlow MR,
Perry TR,
Walsh LE,
Kasarskis EJ,
Butler IJ,
Breakefield XO
Neurology
1993 Dec;43(12):2596-602.
doi: 10.1212/wnl.43.12.2596.
PMID: 8255463
Clinical prediction guides
Chen X,
Dong T,
Hu Y,
De Pace R,
Mattera R,
Eberhardt K,
Ziegler M,
Pirovolakis T,
Sahin M,
Bonifacino JS,
Ebrahimi-Fakhari D,
Gray SJ
J Clin Invest
2023 May 15;133(10)
doi: 10.1172/JCI164575.
PMID: 36951961Free PMC Article
Saffari A,
Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
Sedighzadeh S,
Siu VM,
Ortigoza-Escobar JD,
AlShamsi AM,
Ibrahim S,
Al-Sannaa NA,
Al-Hertani W,
Sandra W,
Tarnopolsky M,
Alavi S,
Li C,
Day-Salvatore DL,
Martínez-González MJ,
Levandoski KM,
Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
Shahrooei M,
Ghavideldarestani M,
Herman I,
Rendu J,
Faure J,
Baker J,
Bhambhani V,
Calderwood L,
Akhondian J,
Imannezhad S,
Mirzadeh HS,
Hashemi N,
Doosti M,
Safi M,
Ahangari N,
Torbati PN,
Abedini S,
Salpietro V,
Gulec EY,
Eshaghian S,
Ghazavi M,
Pascher MT,
Vogel M,
Abicht A,
Moutton S,
Bruel AL,
Rieubland C,
Gallati S,
Strom TM,
Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
Berger SI,
Andrew EH,
Rahimian E,
Morrow MM,
Wentzensen IM,
Millan F,
Henderson LB,
Dafsari HS,
Jungbluth H,
Gomez-Ospina N,
McRae A,
Peter M,
Veltra D,
Marinakis NM,
Sofocleous C,
Ashrafzadeh F,
Pehlivan D,
Lemke JR,
Melki J,
Benezit A,
Bauer P,
Weis D,
Lupski JR,
Senderek J,
Christodoulou J,
Chung WK,
Goodchild R,
Offiah AC,
Moreno-De-Luca A,
Suri M,
Ebrahimi-Fakhari D,
Houlden H,
Maroofian R
Brain
2023 Aug 1;146(8):3273-3288.
doi: 10.1093/brain/awad039.
PMID: 36757831Free PMC Article
Pérez-Dueñas B,
Gorman K,
Marcé-Grau A,
Ortigoza-Escobar JD,
Macaya A,
Danti FR,
Barwick K,
Papandreou A,
Ng J,
Meyer E,
Mohammad SS,
Smith M,
Muntoni F,
Munot P,
Uusimaa J,
Vieira P,
Sheridan E,
Guerrini R,
Cobben J,
Yilmaz S,
De Grandis E,
Dale RC,
Pons R,
Peall KJ,
Leuzzi V,
Kurian MA
Mov Disord
2022 Nov;37(11):2197-2209.
Epub 2022 Aug 25
doi: 10.1002/mds.29182.
PMID: 36054588Free PMC Article
Cif L,
Demailly D,
Lin JP,
Barwick KE,
Sa M,
Abela L,
Malhotra S,
Chong WK,
Steel D,
Sanchis-Juan A,
Ngoh A,
Trump N,
Meyer E,
Vasques X,
Rankin J,
Allain MW,
Applegate CD,
Attaripour Isfahani S,
Baleine J,
Balint B,
Bassetti JA,
Baple EL,
Bhatia KP,
Blanchet C,
Burglen L,
Cambonie G,
Seng EC,
Bastaraud SC,
Cyprien F,
Coubes C,
d'Hardemare V;
Deciphering Developmental Disorders Study,
Doja A,
Dorison N,
Doummar D,
Dy-Hollins ME,
Farrelly E,
Fitzpatrick DR,
Fearon C,
Fieg EL,
Fogel BL,
Forman EB,
Fox RG;
Genomics England Research Consortium,
Gahl WA,
Galosi S,
Gonzalez V,
Graves TD,
Gregory A,
Hallett M,
Hasegawa H,
Hayflick SJ,
Hamosh A,
Hully M,
Jansen S,
Jeong SY,
Krier JB,
Krystal S,
Kumar KR,
Laurencin C,
Lee H,
Lesca G,
François LL,
Lynch T,
Mahant N,
Martinez-Agosto JA,
Milesi C,
Mills KA,
Mondain M,
Morales-Briceno H;
NIHR BioResource,
Ostergaard JR,
Pal S,
Pallais JC,
Pavillard F,
Perrigault PF,
Petersen AK,
Polo G,
Poulen G,
Rinne T,
Roujeau T,
Rogers C,
Roubertie A,
Sahagian M,
Schaefer E,
Selim L,
Selway R,
Sharma N,
Signer R,
Soldatos AG,
Stevenson DA,
Stewart F,
Tchan M;
Undiagnosed Diseases Network,
Verma IC,
de Vries BBA,
Wilson JL,
Wong DA,
Zaitoun R,
Zhen D,
Znaczko A,
Dale RC,
de Gusmão CM,
Friedman J,
Fung VSC,
King MD,
Mohammad SS,
Rohena L,
Waugh JL,
Toro C,
Raymond FL,
Topf M,
Coubes P,
Gorman KM,
Kurian MA
Brain
2020 Dec 5;143(11):3242-3261.
doi: 10.1093/brain/awaa304.
PMID: 33150406Free PMC Article
Hauf M,
Krestel H,
Cavelti A,
Biedermann AP,
Schroth G,
Mattle HP
Neurologist
2015 Dec;20(6):104-5.
doi: 10.1097/NRL.0000000000000062.
PMID: 26671742