Etiology
Filges I,
Jünemann S,
Viehweger E,
Tercanli S
Prenat Diagn
2023 Jun;43(6):798-805.
Epub 2023 Jan 12
doi: 10.1002/pd.6299.
PMID: 36588183
Hamel J,
Ciafaloni E
Neurol Clin
2018 May;36(2):355-365.
doi: 10.1016/j.ncl.2018.01.005.
PMID: 29655454
Hall JG,
Kimber E,
van Bosse HJP
J Pediatr Orthop
2017 Jul/Aug;37 Suppl 1:S4-S8.
doi: 10.1097/BPO.0000000000000997.
PMID: 28594686
van Bosse HJ
Foot Ankle Clin
2015 Dec;20(4):619-44.
Epub 2015 Oct 21
doi: 10.1016/j.fcl.2015.07.010.
PMID: 26589082
Hall JG,
Aldinger KA,
Tanaka KI
Am J Med Genet A
2014 Mar;164A(3):700-30.
Epub 2014 Jan 23
doi: 10.1002/ajmg.a.36395.
PMID: 24459070
Diagnosis
Filges I,
Jünemann S,
Viehweger E,
Tercanli S
Prenat Diagn
2023 Jun;43(6):798-805.
Epub 2023 Jan 12
doi: 10.1002/pd.6299.
PMID: 36588183
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
Langston S,
Chu A
Pediatr Ann
2020 Jul 1;49(7):e299-e304.
doi: 10.3928/19382359-20200624-01.
PMID: 32674167
Attarian S,
Fatehi F,
Rajabally YA,
Pareyson D
J Neurol
2020 Aug;267(8):2198-2206.
Epub 2019 Apr 15
doi: 10.1007/s00415-019-09319-8.
PMID: 30989370
Hall JG,
Aldinger KA,
Tanaka KI
Am J Med Genet A
2014 Mar;164A(3):700-30.
Epub 2014 Jan 23
doi: 10.1002/ajmg.a.36395.
PMID: 24459070
Therapy
Ahmad S,
House R,
Holness DL,
Nisenbaum R,
Thompson AMS
Occup Med (Lond)
2023 Feb 14;73(1):36-41.
doi: 10.1093/occmed/kqac137.
PMID: 36516395
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
doi: 10.1016/j.fas.2022.10.002.
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.
Epub 2021 Sep 6
doi: 10.1097/WNP.0000000000000893.
PMID: 34510092
Sions JM,
Donohoe M,
Beisheim-Ryan EH,
Pohlig RT,
Shank TM,
Nichols LR
BMC Musculoskelet Disord
2022 Feb 5;23(1):121.
doi: 10.1186/s12891-022-05070-w.
PMID: 35123456Free PMC Article
Calotta NA,
Sacks JM,
Kumar AR
Ann Plast Surg
2017 Apr;78(4):467-470.
doi: 10.1097/SAP.0000000000000988.
PMID: 28177969
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.
doi: 10.1016/j.ajog.2019.09.021.
PMID: 31787162
Mutlu M,
Aslan Y,
Aktürk-Acar F,
Çakır M,
Erduran E,
Kalyoncu M
Turk J Pediatr
2017;59(4):487-490.
doi: 10.24953/turkjped.2017.04.019.
PMID: 29624233
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,
Guiochon-Mantel A,
Bessereau JL,
Tawk M,
Gut I,
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