Etiology
Filges I,
Jünemann S,
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Prenat Diagn
2023 Jun;43(6):798-805.
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Cells
2022 Nov 21;11(22)
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CoULD Study Group
J Pediatr Orthop
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Am J Med Genet A
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Diagnosis
Griffet J,
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Bourg V,
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Orthop Traumatol Surg Res
2021 Feb;107(1S):102781.
Epub 2020 Dec 13
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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.
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Langston S,
Chu A
Pediatr Ann
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Attarian S,
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J Neurol
2020 Aug;267(8):2198-2206.
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Hall JG,
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Am J Med Genet C Semin Med Genet
2019 Sep;181(3):300-303.
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Therapy
Chergui S,
Al-Ali H,
Marwan Y,
Abu Dalu K,
Dahan-Oliel N,
Hamdy RC
Foot Ankle Surg
2023 Jan;29(1):15-21.
Epub 2022 Oct 15
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PMID: 36266132
Gouveia de Melo ACM,
van der Linden V,
Serpa SC,
Rolim Filho EL,
Lins OG
J Clin Neurophysiol
2023 May 1;40(4):350-354.
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Althammer F,
Muscatelli F,
Grinevich V,
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Transl Psychiatry
2022 Aug 8;12(1):318.
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Church C,
McGowan A,
Henley J,
Donohoe M,
Niiler T,
Shrader MW,
Nichols LR
J Pediatr Orthop
2020 Aug;40(7):e641-e646.
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Gilhus NE,
Hong Y
Eur J Neurol
2018 Dec;25(12):1402-1409.
Epub 2018 Sep 14
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PMID: 30133097
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
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.
doi: 10.3928/19382359-20200624-01.
PMID: 32674167
Society for Maternal-Fetal Medicine,
Rac MWF,
McKinney J,
Gandhi M
Am J Obstet Gynecol
2019 Dec;221(6):B7-B9.
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PMID: 31787162
Hall JG
Am Fam Physician
1989 Jan;39(1):113-9.
PMID: 2643273
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,
Dieterich K,
Stoeva R,
Quevarec L,
Nolent F,
Biancalana V,
Latour P,
Sternberg D,
Capri Y,
Verloes A,
Bessieres B,
Loeuillet L,
Attie-Bitach T,
Martinovic J,
Blesson S,
Petit F,
Beneteau C,
Whalen S,
Marguet F,
Bouligand J,
Héron D,
Viot G,
Amiel J,
Amram D,
Bellesme C,
Bucourt M,
Faivre L,
Jouk PS,
Khung S,
Sigaudy S,
Delezoide AL,
Goldenberg A,
Jacquemont ML,
Lambert L,
Layet V,
Lyonnet S,
Munnich A,
Van Maldergem L,
Piard J,
Guimiot F,
Landrieu P,
Letard P,
Pelluard F,
Perrin L,
Saint-Frison MH,
Topaloglu H,
Trestard L,
Vincent-Delorme C,
Amthor H,
Barnerias C,
Benachi A,
Bieth E,
Boucher E,
Cormier-Daire V,
Delahaye-Duriez A,
Desguerre I,
Eymard B,
Francannet C,
Grotto S,
Lacombe D,
Laffargue F,
Legendre M,
Martin-Coignard D,
Mégarbané A,
Mercier S,
Nizon M,
Rigonnot L,
Prieur F,
Quélin C,
Ranjatoelina-Randrianaivo H,
Resta N,
Toutain A,
Verhelst H,
Vincent M,
Colin E,
Fallet-Bianco C,
Granier M,
Grigorescu R,
Saada J,
Gonzales M,
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Gitiaux C,
Melki J
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