Etiology
Pedroso JL,
Vale TC,
Freitas JL,
Araújo FMM,
Meira AT,
Neto PB,
França MC Junior,
Tumas V,
Teive HAG,
Barsottini OGP
Arq Neuropsiquiatr
2023 Nov;81(11):1000-1007.
Epub 2023 Nov 30
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PMID: 38035585Free PMC Article
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
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.
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Neuroepidemiology
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PMID: 24603320
Diagnosis
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,
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Mov Disord
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Koch H,
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Epilepsy Behav
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Esposito S,
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Viruses
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Coutinho P
Neuroepidemiology
2014;42(3):174-83.
Epub 2014 Mar 5
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PMID: 24603320
Therapy
Chen X,
Dong T,
Hu Y,
De Pace R,
Mattera R,
Eberhardt K,
Ziegler M,
Pirovolakis T,
Sahin M,
Bonifacino JS,
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J Clin Invest
2023 May 15;133(10)
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Rahimi M,
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Ghasem-Zadeh A
Spinal Cord
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Luc QN,
Querubin J
Paediatr Drugs
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Neurology
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PMID: 28389587
Mulroy SJ,
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Kemp B,
Hatchett PP,
Newsam CJ,
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Haubert LL,
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Physical Therapy Clinical Research Network (PTClinResNet)
Phys Ther
2011 Mar;91(3):305-24.
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Prognosis
Chen PS,
Lee NC,
Sung CJ,
Liu YW,
Weng WC,
Fan PC,
Lee WT,
Chien YH,
Wu CS,
Sung YF,
Tsai MC,
Lee YC,
Hsueh HW,
Fan SM,
Wu MC,
Li H,
Chen HY,
Lin HI,
Ou-Yang CH,
Hwuh WL,
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Mov Disord
2023 Dec;38(12):2217-2229.
Epub 2023 Sep 27
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PMID: 37752895
Erro R,
Monfrini E,
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PMID: 37482397
Saffari A,
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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,
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Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
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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.
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PMID: 36757831Free PMC Article
Steel D,
Kurian MA
Curr Opin Neurol
2020 Aug;33(4):500-507.
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PMID: 32657892
Dobyns WB,
Ozelius LJ,
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Brashear A,
Farlow MR,
Perry TR,
Walsh LE,
Kasarskis EJ,
Butler IJ,
Breakefield XO
Neurology
1993 Dec;43(12):2596-602.
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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
Steel D,
Kurian MA
Curr Opin Neurol
2020 Aug;33(4):500-507.
doi: 10.1097/WCO.0000000000000831.
PMID: 32657892