Etiology
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Diagnosis
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Therapy
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Prognosis
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Benezit A,
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Brain
2023 Aug 1;146(8):3273-3288.
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PMID: 36757831Free PMC Article
Chelban V,
Alsagob M,
Kloth K,
Chirita-Emandi A,
Vandrovcova J,
Maroofian R,
Davagnanam I,
Bakhtiari S,
AlSayed MD,
Rahbeeni Z,
AlZaidan H,
Malintan NT,
Johannsen J,
Efthymiou S,
Ghayoor Karimiani E,
Mankad K,
Al-Shahrani SA,
Beiraghi Toosi M,
AlShammari M,
Groppa S,
Haridy NA,
AlQuait L,
Qari A,
Huma R,
Salih MA,
Almass R,
Almutairi FB,
Hamad MH,
Alorainy IA,
Ramzan K,
Imtiaz F,
Puiu M,
Kruer MC,
Bierhals T,
Wood NW,
Colak D,
Houlden H,
Kaya N
Eur J Neurol
2020 Feb;27(2):334-342.
Epub 2019 Oct 17
doi: 10.1111/ene.14082.
PMID: 31509304Free PMC Article
Salen G,
Steiner RD
J Inherit Metab Dis
2017 Nov;40(6):771-781.
Epub 2017 Oct 4
doi: 10.1007/s10545-017-0093-8.
PMID: 28980151
Scholl UI,
Dave HB,
Lu M,
Farhi A,
Nelson-Williams C,
Listman JA,
Lifton RP
Pediatr Nephrol
2012 Nov;27(11):2081-2090.
Epub 2012 Aug 21
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Saffari A,
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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
Ozaki A,
Sasaki M,
Hiraide T,
Sumitomo N,
Takeshita E,
Shimizu-Motohashi Y,
Ishiyama A,
Saito T,
Komaki H,
Nakagawa E,
Sato N,
Nakashima M,
Saitsu H
Brain Dev
2020 Jun;42(6):462-467.
Epub 2020 Mar 12
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PMID: 32173090
Dolgin V,
Straussberg R,
Xu R,
Mileva I,
Yogev Y,
Khoury R,
Konen O,
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Mao C,
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2019 Nov;27(11):1668-1676.
Epub 2019 Jun 11
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PMID: 31186544Free PMC Article
Bruford EA,
Riise R,
Teague PW,
Porter K,
Thomson KL,
Moore AT,
Jay M,
Warburg M,
Schinzel A,
Tommerup N,
Tornqvist K,
Rosenberg T,
Patton M,
Mansfield DC,
Wright AF
Genomics
1997 Apr 1;41(1):93-9.
doi: 10.1006/geno.1997.4613.
PMID: 9126487