Etiology
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Diagnosis
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Milnes D,
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Moon P,
Kamien B,
Edwards M,
Delatycki M,
Lamont PJ,
Chan SH,
Colley A,
Ma A,
Collins F,
Hennington L,
Zhao T,
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Laing NG,
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J Med Genet
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J Am Acad Orthop Surg
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Therapy
Chergui S,
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Foot Ankle Surg
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Gouveia de Melo ACM,
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Lancet Oncol
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Prognosis
Saffari A,
Lau T,
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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.
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PMID: 36757831Free PMC Article
Vetro A,
Nielsen HN,
Holm R,
Hevner RF,
Parrini E,
Powis Z,
Møller RS,
Bellan C,
Simonati A,
Lesca G,
Helbig KL,
Palmer EE,
Mei D,
Ballardini E,
Van Haeringen A,
Syrbe S,
Leuzzi V,
Cioni G,
Curry CJ,
Costain G,
Santucci M,
Chong K,
Mancini GMS,
Clayton-Smith J,
Bigoni S,
Scheffer IE,
Dobyns WB,
Vilsen B,
Guerrini R;
ATP1A2/A3-collaborators
Brain
2021 Jun 22;144(5):1435-1450.
doi: 10.1093/brain/awab052.
PMID: 33880529
Langston S,
Chu A
Pediatr Ann
2020 Jul 1;49(7):e299-e304.
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PMID: 32674167
Society for Maternal-Fetal Medicine,
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Bernstein RM
J Am Acad Orthop Surg
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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
Laquerriere A,
Jaber D,
Abiusi E,
Maluenda J,
Mejlachowicz D,
Vivanti A,
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Quevarec L,
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Biancalana V,
Latour P,
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Capri Y,
Verloes A,
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Loeuillet L,
Attie-Bitach T,
Martinovic J,
Blesson S,
Petit F,
Beneteau C,
Whalen S,
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Viot G,
Amiel J,
Amram D,
Bellesme C,
Bucourt M,
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Khung S,
Sigaudy S,
Delezoide AL,
Goldenberg A,
Jacquemont ML,
Lambert L,
Layet V,
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Munnich A,
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Letard P,
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Topaloglu H,
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Amthor H,
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Benachi A,
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Cormier-Daire V,
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Nizon M,
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Prieur F,
Quélin C,
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Vincent M,
Colin E,
Fallet-Bianco C,
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Saada J,
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J Med Genet
2022 Jun;59(6):559-567.
Epub 2021 Apr 5
doi: 10.1136/jmedgenet-2020-107595.
PMID: 33820833Free PMC Article
Vetro A,
Nielsen HN,
Holm R,
Hevner RF,
Parrini E,
Powis Z,
Møller RS,
Bellan C,
Simonati A,
Lesca G,
Helbig KL,
Palmer EE,
Mei D,
Ballardini E,
Van Haeringen A,
Syrbe S,
Leuzzi V,
Cioni G,
Curry CJ,
Costain G,
Santucci M,
Chong K,
Mancini GMS,
Clayton-Smith J,
Bigoni S,
Scheffer IE,
Dobyns WB,
Vilsen B,
Guerrini R;
ATP1A2/A3-collaborators
Brain
2021 Jun 22;144(5):1435-1450.
doi: 10.1093/brain/awab052.
PMID: 33880529
Ravenscroft G,
Clayton JS,
Faiz F,
Sivadorai P,
Milnes D,
Cincotta R,
Moon P,
Kamien B,
Edwards M,
Delatycki M,
Lamont PJ,
Chan SH,
Colley A,
Ma A,
Collins F,
Hennington L,
Zhao T,
McGillivray G,
Ghedia S,
Chao K,
O'Donnell-Luria A,
Laing NG,
Davis MR
J Med Genet
2021 Sep;58(9):609-618.
Epub 2020 Oct 15
doi: 10.1136/jmedgenet-2020-106901.
PMID: 33060286Free PMC Article
Poling MI,
Dufresne CR,
Chamberlain RL
Orphanet J Rare Dis
2019 Jan 10;14(1):14.
doi: 10.1186/s13023-018-0984-2.
PMID: 30630514Free PMC Article