Etiology
Masri AT,
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Ali M,
Hamamy H
Clin Neurol Neurosurg
2023 Jul;230:107799.
Epub 2023 May 22
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Neurogenetics
2021 Oct;22(4):333-341.
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Neurodegener Dis
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Paediatr Anaesth
2018 Jan;28(1):59-62.
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Diagnosis
Horber V,
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Greitane A,
Hensey O,
Himmelmann K,
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Neurology
2023 Dec 12;101(24):e2509-e2521.
Epub 2023 Oct 19
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Abdullah U,
Karimiani EG,
Efthymiou S,
Yeşil G,
Alavi S,
Al Shamsi AM,
Tajsharghi H,
Abdel-Hamid MS,
Saadi NW,
Al Mutairi F,
Alabdi L,
Beetz C,
Ali Z,
Toosi MB,
Rudnik-Schöneborn S,
Babaei M,
Isohanni P,
Muhammad J,
Khan S,
Al Shalan M,
Hickey SE,
Marom D,
Elhanan E,
Kurian MA,
Marafi D,
Saberi A,
Hamid M,
Spaull R,
Meng L,
Lalani S,
Maqbool S,
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Palculict TB,
Lau T,
Murphy D,
Mencacci NE,
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Aslanger AD,
Salpietro V,
Yousaf H,
Ben-Shachar S,
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Al Aqeel AI,
High FA,
Armstrong-Javors AE,
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Sedaghat A,
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Shahrooei M,
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Kamel WA,
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Bauer P,
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Alkuraya FS,
Lupski JR,
Galehdari H,
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Brain
2023 Dec 1;146(12):5031-5043.
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PMID: 37517035Free PMC Article
Masri AT,
Oweis L,
Ali M,
Hamamy H
Clin Neurol Neurosurg
2023 Jul;230:107799.
Epub 2023 May 22
doi: 10.1016/j.clineuro.2023.107799.
PMID: 37236004
Yunisova G,
Tufekcioglu Z,
Dogu O,
Bilgic B,
Kaleagasi H,
Akca Kalem S,
Lohmann E,
Gurvit HI,
Emre M,
Hanagasi HA
Neurodegener Dis
2019;19(5-6):218-224.
Epub 2020 Apr 29
doi: 10.1159/000506770.
PMID: 32349000
Celmina M,
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Clin Genet
2019 Jan;95(1):63-78.
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PMID: 29722015
Therapy
Yunisova G,
Tufekcioglu Z,
Dogu O,
Bilgic B,
Kaleagasi H,
Akca Kalem S,
Lohmann E,
Gurvit HI,
Emre M,
Hanagasi HA
Neurodegener Dis
2019;19(5-6):218-224.
Epub 2020 Apr 29
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PMID: 32349000
Sohail AH,
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Humayun KN
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2016 Jan;293(1):87-99.
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Ann Neurol
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Prognosis
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Moawia A,
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Khan A,
Ali Z,
Khan S,
Iqbal M,
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Haque SU,
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Genes (Basel)
2021 Sep 24;12(10)
doi: 10.3390/genes12101494.
PMID: 34680889Free PMC Article
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Banderali G,
Burlina A,
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Mol Genet Metab
2020 Sep-Oct;131(1-2):155-162.
Epub 2020 Jun 24
doi: 10.1016/j.ymgme.2020.06.009.
PMID: 32651154
Yunisova G,
Tufekcioglu Z,
Dogu O,
Bilgic B,
Kaleagasi H,
Akca Kalem S,
Lohmann E,
Gurvit HI,
Emre M,
Hanagasi HA
Neurodegener Dis
2019;19(5-6):218-224.
Epub 2020 Apr 29
doi: 10.1159/000506770.
PMID: 32349000
Ansar M,
Paracha SA,
Serretti A,
Sarwar MT,
Khan J,
Ranza E,
Falconnet E,
Iwaszkiewicz J,
Shah SF,
Qaisar AA,
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Zoete V,
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Hum Mol Genet
2019 Mar 15;28(6):972-979.
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PMID: 30481285Free PMC Article
Celmina M,
Micule I,
Inashkina I,
Audere M,
Kuske S,
Pereca J,
Stavusis J,
Pelnena D,
Strautmanis J
Clin Genet
2019 Jan;95(1):63-78.
Epub 2018 Jul 8
doi: 10.1111/cge.13374.
PMID: 29722015
Clinical prediction guides
Maroofian R,
Kaiyrzhanov R,
Cali E,
Zamani M,
Zaki MS,
Ferla M,
Tortora D,
Sadeghian S,
Saadi SM,
Abdullah U,
Karimiani EG,
Efthymiou S,
Yeşil G,
Alavi S,
Al Shamsi AM,
Tajsharghi H,
Abdel-Hamid MS,
Saadi NW,
Al Mutairi F,
Alabdi L,
Beetz C,
Ali Z,
Toosi MB,
Rudnik-Schöneborn S,
Babaei M,
Isohanni P,
Muhammad J,
Khan S,
Al Shalan M,
Hickey SE,
Marom D,
Elhanan E,
Kurian MA,
Marafi D,
Saberi A,
Hamid M,
Spaull R,
Meng L,
Lalani S,
Maqbool S,
Rahman F,
Seeger J,
Palculict TB,
Lau T,
Murphy D,
Mencacci NE,
Steindl K,
Begemann A,
Rauch A,
Akbas S,
Aslanger AD,
Salpietro V,
Yousaf H,
Ben-Shachar S,
Ejeskär K,
Al Aqeel AI,
High FA,
Armstrong-Javors AE,
Zahraei SM,
Seifi T,
Zeighami J,
Shariati G,
Sedaghat A,
Asl SN,
Shahrooei M,
Zifarelli G,
Burglen L,
Ravelli C,
Zschocke J,
Schatz UA,
Ghavideldarestani M,
Kamel WA,
Van Esch H,
Hackenberg A,
Taylor JC,
Al-Gazali L,
Bauer P,
Gleeson JJ,
Alkuraya FS,
Lupski JR,
Galehdari H,
Azizimalamiri R,
Chung WK,
Baig SM,
Houlden H,
Severino M
Brain
2023 Dec 1;146(12):5031-5043.
doi: 10.1093/brain/awad257.
PMID: 37517035Free PMC Article
Meng T,
Chen X,
He Z,
Huang H,
Lin S,
Liu K,
Bai G,
Liu H,
Xu M,
Zhuang H,
Zhang Y,
Waqas A,
Liu Q,
Zhang C,
Sun XD,
Huang H,
Umair M,
Yan Y,
Feng D
Mol Psychiatry
2023 Mar;28(3):1219-1231.
Epub 2023 Jan 6
doi: 10.1038/s41380-022-01940-w.
PMID: 36604604Free PMC Article
Manti F,
Nardecchia F,
Banderali G,
Burlina A,
Carducci C,
Carducci C,
Donati MA,
Gueraldi D,
Paci S,
Pochiero F,
Porta F,
Ortolano R,
Rovelli V,
Schiaffino MC,
Spada M,
Blau N,
Leuzzi V
Mol Genet Metab
2020 Sep-Oct;131(1-2):155-162.
Epub 2020 Jun 24
doi: 10.1016/j.ymgme.2020.06.009.
PMID: 32651154
Ansar M,
Paracha SA,
Serretti A,
Sarwar MT,
Khan J,
Ranza E,
Falconnet E,
Iwaszkiewicz J,
Shah SF,
Qaisar AA,
Santoni FA,
Zoete V,
Megarbane A,
Ahmed J,
Colombo R,
Makrythanasis P,
Antonarakis SE
Hum Mol Genet
2019 Mar 15;28(6):972-979.
doi: 10.1093/hmg/ddy406.
PMID: 30481285Free PMC Article
Warner LL,
Olsen DA,
Smith HM
Paediatr Anaesth
2018 Jan;28(1):59-62.
Epub 2017 Nov 17
doi: 10.1111/pan.13283.
PMID: 29148179