Etiology
Blagovechtchenski E,
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Azuma Y,
Laffargue F,
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Brochier G,
Buon C,
Bouzidi N,
Topf A,
Lacène E,
Remerand G,
Beaufrere AM,
Pebrel-Richard C,
Thevenon J,
El Chehadeh-Djebbar S,
Faivre L,
Duffourd Y,
Ricci F,
Mongini T,
Fiorillo C,
Astrea G,
Burloiu CM,
Butoianu N,
Sandu C,
Servais L,
Bonne G,
Nelson I,
Desguerre I,
Nougues MC,
Bœuf B,
Romero N,
Laporte J,
Boland A,
Lechner D,
Deleuze JF,
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Diagnosis
Allen NM,
O'Rahelly M,
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Hahn A,
Kearns G,
Kim DS,
Byun SY,
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Schara-Schmidt U,
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Thieme A,
Van den Bergh P,
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Masud A,
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Brain
2023 Oct 3;146(10):4233-4246.
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PMID: 37186601Free PMC Article
Blagovechtchenski E,
Koriakina M,
Bredikhin D,
Agranovich O,
Kadieva D,
Ermolovich E,
Jääskeläinen IP,
Shestakova AN
Int J Environ Res Public Health
2023 Jan 19;20(3)
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PMID: 36767207Free PMC Article
Kölbel H,
Abicht A,
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Eur J Paediatr Neurol
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Therapy
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Sugihara S,
Tamasaki A,
Nishimura Y,
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Pediatr Neurol
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Prognosis
Saffari A,
Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
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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,
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Hashemi N,
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Ahangari N,
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Salpietro V,
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Eshaghian S,
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Pascher MT,
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Abicht A,
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Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
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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,
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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
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O'Regan S,
Azuma Y,
Laffargue F,
McMacken G,
Sternberg D,
Brochier G,
Buon C,
Bouzidi N,
Topf A,
Lacène E,
Remerand G,
Beaufrere AM,
Pebrel-Richard C,
Thevenon J,
El Chehadeh-Djebbar S,
Faivre L,
Duffourd Y,
Ricci F,
Mongini T,
Fiorillo C,
Astrea G,
Burloiu CM,
Butoianu N,
Sandu C,
Servais L,
Bonne G,
Nelson I,
Desguerre I,
Nougues MC,
Bœuf B,
Romero N,
Laporte J,
Boland A,
Lechner D,
Deleuze JF,
Fontaine B,
Strochlic L,
Lochmuller H,
Eymard B,
Mayer M,
Nicole S
Am J Hum Genet
2016 Sep 1;99(3):753-761.
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PMID: 27569547Free PMC Article
Vill K,
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Gläser D,
Walter MC,
Müller-Felber W
Neuropediatrics
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PMID: 26110311
Hausmanowa-Petrusewicz I
Neurol Neurochir Pol
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Clinical prediction guides
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
Bauché S,
O'Regan S,
Azuma Y,
Laffargue F,
McMacken G,
Sternberg D,
Brochier G,
Buon C,
Bouzidi N,
Topf A,
Lacène E,
Remerand G,
Beaufrere AM,
Pebrel-Richard C,
Thevenon J,
El Chehadeh-Djebbar S,
Faivre L,
Duffourd Y,
Ricci F,
Mongini T,
Fiorillo C,
Astrea G,
Burloiu CM,
Butoianu N,
Sandu C,
Servais L,
Bonne G,
Nelson I,
Desguerre I,
Nougues MC,
Bœuf B,
Romero N,
Laporte J,
Boland A,
Lechner D,
Deleuze JF,
Fontaine B,
Strochlic L,
Lochmuller H,
Eymard B,
Mayer M,
Nicole S
Am J Hum Genet
2016 Sep 1;99(3):753-761.
Epub 2016 Aug 25
doi: 10.1016/j.ajhg.2016.06.033.
PMID: 27569547Free PMC Article
Vill K,
Kuhn M,
Gläser D,
Walter MC,
Müller-Felber W
Neuropediatrics
2015 Aug;46(4):282-6.
Epub 2015 Jun 25
doi: 10.1055/s-0035-1554100.
PMID: 26110311
Echaniz-Laguna A,
Dubourg O,
Carlier P,
Carlier RY,
Sabouraud P,
Péréon Y,
Chapon F,
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Latour P,
Stojkovic T
Neurology
2014 May 27;82(21):1919-26.
Epub 2014 Apr 30
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PMID: 24789864
Hall JG
Eur J Med Genet
2014 Aug;57(8):464-72.
Epub 2014 Apr 3
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PMID: 24704792