Etiology
Bucur M,
Papagno C
Neuropsychol Rev
2023 Jun;33(2):307-346.
Epub 2022 Mar 23
doi: 10.1007/s11065-022-09540-9.
PMID: 35318587Free PMC Article
Chauhan A,
Chauhan V
Nutrients
2020 Feb 20;12(2)
doi: 10.3390/nu12020550.
PMID: 32093220Free PMC Article
Henderson FC Sr,
Austin C,
Benzel E,
Bolognese P,
Ellenbogen R,
Francomano CA,
Ireton C,
Klinge P,
Koby M,
Long D,
Patel S,
Singman EL,
Voermans NC
Am J Med Genet C Semin Med Genet
2017 Mar;175(1):195-211.
Epub 2017 Feb 21
doi: 10.1002/ajmg.c.31549.
PMID: 28220607
Cox DM,
Butler MG
Int J Mol Sci
2015 Feb 13;16(2):4068-82.
doi: 10.3390/ijms16024068.
PMID: 25689425Free PMC Article
Holland NJ,
Bernstein JM
BMJ Clin Evid
2014 Apr 9;2014
PMID: 24717284Free PMC Article
Diagnosis
Bucur M,
Papagno C
Neuropsychol Rev
2023 Jun;33(2):307-346.
Epub 2022 Mar 23
doi: 10.1007/s11065-022-09540-9.
PMID: 35318587Free PMC Article
McCormick JR,
Sama AJ,
Schiller NC,
Butler AJ,
Donnally CJ 3rd
J Am Board Fam Med
2020 Mar-Apr;33(2):303-313.
doi: 10.3122/jabfm.2020.02.190195.
PMID: 32179614
Verhaart IEC,
Robertson A,
Wilson IJ,
Aartsma-Rus A,
Cameron S,
Jones CC,
Cook SF,
Lochmüller H
Orphanet J Rare Dis
2017 Jul 4;12(1):124.
doi: 10.1186/s13023-017-0671-8.
PMID: 28676062Free PMC Article
Henderson FC Sr,
Austin C,
Benzel E,
Bolognese P,
Ellenbogen R,
Francomano CA,
Ireton C,
Klinge P,
Koby M,
Long D,
Patel S,
Singman EL,
Voermans NC
Am J Med Genet C Semin Med Genet
2017 Mar;175(1):195-211.
Epub 2017 Feb 21
doi: 10.1002/ajmg.c.31549.
PMID: 28220607
Holland NJ,
Bernstein JM
BMJ Clin Evid
2014 Apr 9;2014
PMID: 24717284Free PMC Article
Therapy
Bucur M,
Papagno C
Neuropsychol Rev
2023 Jun;33(2):307-346.
Epub 2022 Mar 23
doi: 10.1007/s11065-022-09540-9.
PMID: 35318587Free PMC Article
Cannistraro RJ,
Badi M,
Eidelman BH,
Dickson DW,
Middlebrooks EH,
Meschia JF
Neurology
2019 Jun 11;92(24):1146-1156.
Epub 2019 May 29
doi: 10.1212/WNL.0000000000007654.
PMID: 31142635Free PMC Article
Lucas BR,
Elliott EJ,
Coggan S,
Pinto RZ,
Jirikowic T,
McCoy SW,
Latimer J
BMC Pediatr
2016 Nov 29;16(1):193.
doi: 10.1186/s12887-016-0731-6.
PMID: 27899082Free PMC Article
Holland NJ,
Bernstein JM
BMJ Clin Evid
2014 Apr 9;2014
PMID: 24717284Free PMC Article
Vanier MT
Orphanet J Rare Dis
2010 Jun 3;5:16.
doi: 10.1186/1750-1172-5-16.
PMID: 20525256Free PMC Article
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
Nagatani M,
Tanaka T,
Son BK,
Kawamura J,
Tagomori J,
Hirano H,
Shirobe M,
Iijima K
Exp Gerontol
2023 Feb;172:112075.
Epub 2022 Dec 26
doi: 10.1016/j.exger.2022.112075.
PMID: 36581224
Finder M,
Boylan GB,
Twomey D,
Ahearne C,
Murray DM,
Hallberg B
JAMA Pediatr
2020 Jan 1;174(1):48-55.
doi: 10.1001/jamapediatrics.2019.4011.
PMID: 31710357Free PMC Article
Verhaart IEC,
Robertson A,
Wilson IJ,
Aartsma-Rus A,
Cameron S,
Jones CC,
Cook SF,
Lochmüller H
Orphanet J Rare Dis
2017 Jul 4;12(1):124.
doi: 10.1186/s13023-017-0671-8.
PMID: 28676062Free PMC Article
Vanier MT
Orphanet J Rare Dis
2010 Jun 3;5:16.
doi: 10.1186/1750-1172-5-16.
PMID: 20525256Free PMC Article
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
Bucur M,
Papagno C
Neuropsychol Rev
2023 Jun;33(2):307-346.
Epub 2022 Mar 23
doi: 10.1007/s11065-022-09540-9.
PMID: 35318587Free PMC Article
Cousin MA,
Creighton BA,
Breau KA,
Spillmann RC,
Torti E,
Dontu S,
Tripathi S,
Ajit D,
Edwards RJ,
Afriyie S,
Bay JC,
Harper KM,
Beltran AA,
Munoz LJ,
Falcon Rodriguez L,
Stankewich MC,
Person RE,
Si Y,
Normand EA,
Blevins A,
May AS,
Bier L,
Aggarwal V,
Mancini GMS,
van Slegtenhorst MA,
Cremer K,
Becker J,
Engels H,
Aretz S,
MacKenzie JJ,
Brilstra E,
van Gassen KLI,
van Jaarsveld RH,
Oegema R,
Parsons GM,
Mark P,
Helbig I,
McKeown SE,
Stratton R,
Cogne B,
Isidor B,
Cacheiro P,
Smedley D,
Firth HV,
Bierhals T,
Kloth K,
Weiss D,
Fairley C,
Shieh JT,
Kritzer A,
Jayakar P,
Kurtz-Nelson E,
Bernier RA,
Wang T,
Eichler EE,
van de Laar IMBH,
McConkie-Rosell A,
McDonald MT,
Kemppainen J,
Lanpher BC,
Schultz-Rogers LE,
Gunderson LB,
Pichurin PN,
Yoon G,
Zech M,
Jech R,
Winkelmann J;
Undiagnosed Diseases Network;
Genomics England Research Consortium,
Beltran AS,
Zimmermann MT,
Temple B,
Moy SS,
Klee EW,
Tan QK,
Lorenzo DN
Nat Genet
2021 Jul;53(7):1006-1021.
Epub 2021 Jul 1
doi: 10.1038/s41588-021-00886-z.
PMID: 34211179Free PMC Article
Cox DM,
Butler MG
Int J Mol Sci
2015 Feb 13;16(2):4068-82.
doi: 10.3390/ijms16024068.
PMID: 25689425Free PMC Article
Vanier MT
Orphanet J Rare Dis
2010 Jun 3;5:16.
doi: 10.1186/1750-1172-5-16.
PMID: 20525256Free PMC Article