Etiology
Chen A,
Yu Z,
Ma N,
Lu X,
Zhang Y,
Xu W,
Wang Y,
Xie J,
Qin Y,
Mo G,
Wu S,
Hou J,
Zhu W
Cancer Immunol Immunother
2024 Feb 13;73(3):49.
doi: 10.1007/s00262-024-03628-2.
PMID: 38349553Free PMC Article
Tein I
Epilepsy Behav
2023 Aug;145:109338.
Epub 2023 Jul 13
doi: 10.1016/j.yebeh.2023.109338.
PMID: 37453291
Frazier AE,
Compton AG,
Kishita Y,
Hock DH,
Welch AE,
Amarasekera SSC,
Rius R,
Formosa LE,
Imai-Okazaki A,
Francis D,
Wang M,
Lake NJ,
Tregoning S,
Jabbari JS,
Lucattini A,
Nitta KR,
Ohtake A,
Murayama K,
Amor DJ,
McGillivray G,
Wong FY,
van der Knaap MS,
Jeroen Vermeulen R,
Wiltshire EJ,
Fletcher JM,
Lewis B,
Baynam G,
Ellaway C,
Balasubramaniam S,
Bhattacharya K,
Freckmann ML,
Arbuckle S,
Rodriguez M,
Taft RJ,
Sadedin S,
Cowley MJ,
Minoche AE,
Calvo SE,
Mootha VK,
Ryan MT,
Okazaki Y,
Stroud DA,
Simons C,
Christodoulou J,
Thorburn DR
Med
2021 Jan 15;2(1):49-73.
Epub 2020 Jul 9
doi: 10.1016/j.medj.2020.06.004.
PMID: 33575671Free PMC Article
Tao L,
Huang X,
Xu M,
Qin Z,
Zhang F,
Hua F,
Jiang X,
Wang Y
Mol Cell Endocrinol
2020 Dec 1;518:110944.
Epub 2020 Jul 24
doi: 10.1016/j.mce.2020.110944.
PMID: 32717421
Mayr JA,
Haack TB,
Freisinger P,
Karall D,
Makowski C,
Koch J,
Feichtinger RG,
Zimmermann FA,
Rolinski B,
Ahting U,
Meitinger T,
Prokisch H,
Sperl W
J Inherit Metab Dis
2015 Jul;38(4):629-40.
Epub 2015 Mar 17
doi: 10.1007/s10545-015-9831-y.
PMID: 25778941Free PMC Article
Diagnosis
Tein I
Epilepsy Behav
2023 Aug;145:109338.
Epub 2023 Jul 13
doi: 10.1016/j.yebeh.2023.109338.
PMID: 37453291
Saleh S,
Beyyumi E,
Al Kaabi A,
Hertecant J,
Barakat D,
Al Dhaheri NS,
Al-Gazali L,
Al Shamsi A
Clin Genet
2021 Nov;100(5):573-600.
Epub 2021 Aug 19
doi: 10.1111/cge.14044.
PMID: 34374989
Gonzalez-Quereda L,
Rodriguez MJ,
Diaz-Manera J,
Alonso-Perez J,
Gallardo E,
Nascimento A,
Ortez C,
Natera-de Benito D,
Olive M,
Gonzalez-Mera L,
Munain AL,
Zulaica M,
Poza JJ,
Jerico I,
Torne L,
Riera P,
Milisenda J,
Sanchez A,
Garrabou G,
Llano I,
Madruga-Garrido M,
Gallano P
Genes (Basel)
2020 May 11;11(5)
doi: 10.3390/genes11050539.
PMID: 32403337Free PMC Article
Mayr JA,
Haack TB,
Freisinger P,
Karall D,
Makowski C,
Koch J,
Feichtinger RG,
Zimmermann FA,
Rolinski B,
Ahting U,
Meitinger T,
Prokisch H,
Sperl W
J Inherit Metab Dis
2015 Jul;38(4):629-40.
Epub 2015 Mar 17
doi: 10.1007/s10545-015-9831-y.
PMID: 25778941Free PMC Article
Féasson L,
Camdessanché JP,
El Mandhi L,
Calmels P,
Millet GY
Ann Readapt Med Phys
2006 Jul;49(6):289-300, 375-84.
Epub 2006 Apr 25
doi: 10.1016/j.annrmp.2006.04.015.
PMID: 16780988
Therapy
Chen A,
Yu Z,
Ma N,
Lu X,
Zhang Y,
Xu W,
Wang Y,
Xie J,
Qin Y,
Mo G,
Wu S,
Hou J,
Zhu W
Cancer Immunol Immunother
2024 Feb 13;73(3):49.
doi: 10.1007/s00262-024-03628-2.
PMID: 38349553Free PMC Article
Tein I
Epilepsy Behav
2023 Aug;145:109338.
Epub 2023 Jul 13
doi: 10.1016/j.yebeh.2023.109338.
PMID: 37453291
Tao L,
Huang X,
Xu M,
Qin Z,
Zhang F,
Hua F,
Jiang X,
Wang Y
Mol Cell Endocrinol
2020 Dec 1;518:110944.
Epub 2020 Jul 24
doi: 10.1016/j.mce.2020.110944.
PMID: 32717421
Aranca TV,
Jones TM,
Shaw JD,
Staffetti JS,
Ashizawa T,
Kuo SH,
Fogel BL,
Wilmot GR,
Perlman SL,
Onyike CU,
Ying SH,
Zesiewicz TA
Neurodegener Dis Manag
2016;6(1):49-65.
doi: 10.2217/nmt.15.73.
PMID: 26782317Free PMC Article
Tata DA,
Yamamoto BK
Addiction
2007 Apr;102 Suppl 1:49-60.
doi: 10.1111/j.1360-0443.2007.01770.x.
PMID: 17493053
Prognosis
da Rosa R,
Dambrós BP,
Höehr de Moraes M,
Grand L,
Jacolot M,
Popowycz F,
Steindel M,
Schenkel EP,
Campos Bernardes LS
Bioorg Chem
2022 Feb;119:105492.
Epub 2021 Nov 15
doi: 10.1016/j.bioorg.2021.105492.
PMID: 34838333
Ratnaike TE,
Greene D,
Wei W,
Sanchis-Juan A,
Schon KR,
van den Ameele J,
Raymond L,
Horvath R,
Turro E,
Chinnery PF
Nucleic Acids Res
2021 Sep 27;49(17):9686-9695.
doi: 10.1093/nar/gkab726.
PMID: 34428295Free PMC Article
Tao L,
Huang X,
Xu M,
Qin Z,
Zhang F,
Hua F,
Jiang X,
Wang Y
Mol Cell Endocrinol
2020 Dec 1;518:110944.
Epub 2020 Jul 24
doi: 10.1016/j.mce.2020.110944.
PMID: 32717421
Rönnbäck C,
Nissen C,
Almind GJ,
Grønskov K,
Milea D,
Larsen M
Acta Ophthalmol
2015 Dec;93(8):762-6.
Epub 2015 Sep 19
doi: 10.1111/aos.12835.
PMID: 26385429
Mayr JA,
Haack TB,
Freisinger P,
Karall D,
Makowski C,
Koch J,
Feichtinger RG,
Zimmermann FA,
Rolinski B,
Ahting U,
Meitinger T,
Prokisch H,
Sperl W
J Inherit Metab Dis
2015 Jul;38(4):629-40.
Epub 2015 Mar 17
doi: 10.1007/s10545-015-9831-y.
PMID: 25778941Free PMC Article
Clinical prediction guides
Xiao S,
Yao X,
Ye J,
Tian X,
Yin Z,
Zhou L
Biochim Biophys Acta Gene Regul Mech
2022 Aug;1865(6):194829.
Epub 2022 May 30
doi: 10.1016/j.bbagrm.2022.194829.
PMID: 35654390
Tao L,
Huang X,
Xu M,
Qin Z,
Zhang F,
Hua F,
Jiang X,
Wang Y
Mol Cell Endocrinol
2020 Dec 1;518:110944.
Epub 2020 Jul 24
doi: 10.1016/j.mce.2020.110944.
PMID: 32717421
O'Byrne JJ,
Tarailo-Graovac M,
Ghani A,
Champion M,
Deshpande C,
Dursun A,
Ozgul RK,
Freisinger P,
Garber I,
Haack TB,
Horvath R,
Barić I,
Husain RA,
Kluijtmans LAJ,
Kotzaeridou U,
Morris AA,
Ross CJ,
Santra S,
Smeitink J,
Tarnopolsky M,
Wortmann SB,
Mayr JA,
Brunner-Krainz M,
Prokisch H,
Wasserman WW,
Wevers RA,
Engelke UF,
Rodenburg RJ,
Ting TW,
McFarland R,
Taylor RW,
Salvarinova R,
van Karnebeek CDM
Mol Genet Metab
2018 Jan;123(1):28-42.
Epub 2017 Nov 15
doi: 10.1016/j.ymgme.2017.11.003.
PMID: 29331171Free PMC Article
Hawash MB,
Betson M,
Al-Jubury A,
Ketzis J,
LeeWillingham A,
Bertelsen MF,
Cooper PJ,
Littlewood DT,
Zhu XQ,
Nejsum P
Parasit Vectors
2016 Jan 22;9:37.
doi: 10.1186/s13071-016-1325-8.
PMID: 26800683Free PMC Article
Honzik T,
Tesarova M,
Magner M,
Mayr J,
Jesina P,
Vesela K,
Wenchich L,
Szentivanyi K,
Hansikova H,
Sperl W,
Zeman J
J Inherit Metab Dis
2012 Sep;35(5):749-59.
Epub 2012 Jan 10
doi: 10.1007/s10545-011-9440-3.
PMID: 22231385