Etiology
Bukowska-Olech E,
Glista F,
Dinwiddie A,
Pepler A,
Jamsheer A
Eur J Med Genet
2023 Jan;66(1):104668.
Epub 2022 Nov 13
doi: 10.1016/j.ejmg.2022.104668.
PMID: 36384198
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
Chemin J,
Siquier-Pernet K,
Nicouleau M,
Barcia G,
Ahmad A,
Medina-Cano D,
Hanein S,
Altin N,
Hubert L,
Bole-Feysot C,
Fourage C,
Nitschké P,
Thevenon J,
Rio M,
Blanc P,
Vidal C,
Bahi-Buisson N,
Desguerre I,
Munnich A,
Lyonnet S,
Boddaert N,
Fassi E,
Shinawi M,
Zimmerman H,
Amiel J,
Faivre L,
Colleaux L,
Lory P,
Cantagrel V
Brain
2018 Jul 1;141(7):1998-2013.
doi: 10.1093/brain/awy145.
PMID: 29878067
Srivastava S,
Cohen JS,
Vernon H,
Barañano K,
McClellan R,
Jamal L,
Naidu S,
Fatemi A
Ann Neurol
2014 Oct;76(4):473-83.
Epub 2014 Aug 30
doi: 10.1002/ana.24251.
PMID: 25131622
Castori M,
Valiante M,
Pascolini G,
Leuzzi V,
Pizzuti A,
Grammatico P
Eur J Med Genet
2013 Oct;56(10):570-6.
Epub 2013 Aug 27
doi: 10.1016/j.ejmg.2013.08.004.
PMID: 23994350
Diagnosis
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
Srivastava S,
Cohen JS,
Vernon H,
Barañano K,
McClellan R,
Jamal L,
Naidu S,
Fatemi A
Ann Neurol
2014 Oct;76(4):473-83.
Epub 2014 Aug 30
doi: 10.1002/ana.24251.
PMID: 25131622
Dimopoulou A,
Fischer B,
Gardeitchik T,
Schröter P,
Kayserili H,
Schlack C,
Li Y,
Brum JM,
Barisic I,
Castori M,
Spaich C,
Fletcher E,
Mahayri Z,
Bhat M,
Girisha KM,
Lachlan K,
Johnson D,
Phadke S,
Gupta N,
Simandlova M,
Kabra M,
David A,
Nijtmans L,
Chitayat D,
Tuysuz B,
Brancati F,
Mundlos S,
Van Maldergem L,
Morava E,
Wollnik B,
Kornak U
Mol Genet Metab
2013 Nov;110(3):352-61.
Epub 2013 Aug 24
doi: 10.1016/j.ymgme.2013.08.009.
PMID: 24035636
Mercimek-Mahmutoglu S,
Stoeckler-Ipsiroglu S,
Adami A,
Appleton R,
Araújo HC,
Duran M,
Ensenauer R,
Fernandez-Alvarez E,
Garcia P,
Grolik C,
Item CB,
Leuzzi V,
Marquardt I,
Mühl A,
Saelke-Kellermann RA,
Salomons GS,
Schulze A,
Surtees R,
van der Knaap MS,
Vasconcelos R,
Verhoeven NM,
Vilarinho L,
Wilichowski E,
Jakobs C
Neurology
2006 Aug 8;67(3):480-4.
Epub 2006 Jul 19
doi: 10.1212/01.wnl.0000234852.43688.bf.
PMID: 16855203
Therapy
Koyama S,
Okabe Y,
Suzuki Y,
Igari R,
Sato H,
Iseki C,
Tanji K,
Suzuki K,
Ohta Y
BMC Neurol
2022 May 25;22(1):193.
doi: 10.1186/s12883-022-02711-4.
PMID: 35614401Free PMC Article
Okur V,
Cho MT,
van Wijk R,
van Oirschot B,
Picker J,
Coury SA,
Grange D,
Manwaring L,
Krantz I,
Muraresku CC,
Hulick PJ,
May H,
Pierce E,
Place E,
Bujakowska K,
Telegrafi A,
Douglas G,
Monaghan KG,
Begtrup A,
Wilson A,
Retterer K,
Anyane-Yeboa K,
Chung WK
Eur J Hum Genet
2019 Jul;27(7):1081-1089.
Epub 2019 Feb 18
doi: 10.1038/s41431-019-0366-9.
PMID: 30778173Free 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
Srivastava S,
Cohen JS,
Vernon H,
Barañano K,
McClellan R,
Jamal L,
Naidu S,
Fatemi A
Ann Neurol
2014 Oct;76(4):473-83.
Epub 2014 Aug 30
doi: 10.1002/ana.24251.
PMID: 25131622
Suh S,
Kim HK,
Park HD,
Ki CS,
Kim MY,
Jin SM,
Kim SW,
Hur KY,
Kim KW,
Kim JH
Eur J Med Genet
2012 Jan;55(1):71-4.
Epub 2011 Sep 16
doi: 10.1016/j.ejmg.2011.08.003.
PMID: 21958693
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
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
Srivastava S,
Cohen JS,
Vernon H,
Barañano K,
McClellan R,
Jamal L,
Naidu S,
Fatemi A
Ann Neurol
2014 Oct;76(4):473-83.
Epub 2014 Aug 30
doi: 10.1002/ana.24251.
PMID: 25131622
Dimopoulou A,
Fischer B,
Gardeitchik T,
Schröter P,
Kayserili H,
Schlack C,
Li Y,
Brum JM,
Barisic I,
Castori M,
Spaich C,
Fletcher E,
Mahayri Z,
Bhat M,
Girisha KM,
Lachlan K,
Johnson D,
Phadke S,
Gupta N,
Simandlova M,
Kabra M,
David A,
Nijtmans L,
Chitayat D,
Tuysuz B,
Brancati F,
Mundlos S,
Van Maldergem L,
Morava E,
Wollnik B,
Kornak U
Mol Genet Metab
2013 Nov;110(3):352-61.
Epub 2013 Aug 24
doi: 10.1016/j.ymgme.2013.08.009.
PMID: 24035636
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
Dolgin V,
Straussberg R,
Xu R,
Mileva I,
Yogev Y,
Khoury R,
Konen O,
Barhum Y,
Zvulunov A,
Mao C,
Birk OS
Eur J Hum Genet
2019 Nov;27(11):1668-1676.
Epub 2019 Jun 11
doi: 10.1038/s41431-019-0444-z.
PMID: 31186544Free PMC Article
Ansar M,
Ullah F,
Paracha SA,
Adams DJ,
Lai A,
Pais L,
Iwaszkiewicz J,
Millan F,
Sarwar MT,
Agha Z,
Shah SF,
Qaisar AA,
Falconnet E,
Zoete V,
Ranza E,
Makrythanasis P,
Santoni FA,
Ahmed J,
Katsanis N,
Walsh C,
Davis EE,
Antonarakis SE
Am J Hum Genet
2019 Jun 6;104(6):1073-1087.
Epub 2019 May 9
doi: 10.1016/j.ajhg.2019.04.002.
PMID: 31079899Free PMC Article
Goto M,
Okada M,
Komaki H,
Sugai K,
Sasaki M,
Noguchi S,
Nonaka I,
Nishino I,
Hayashi YK
Orphanet J Rare Dis
2014 Apr 23;9:58.
doi: 10.1186/1750-1172-9-58.
PMID: 24755310Free PMC Article
Castori M,
Valiante M,
Pascolini G,
Leuzzi V,
Pizzuti A,
Grammatico P
Eur J Med Genet
2013 Oct;56(10):570-6.
Epub 2013 Aug 27
doi: 10.1016/j.ejmg.2013.08.004.
PMID: 23994350