换一批Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
第一作者：
Perenthaler, Elena
作者：
Perenthaler, Elena [1]
;
Nikoncuk, Anita [2]
;
Yousefi, Soheil [3]
;
Berdowski, Woutje M. [4]
;
Alsagob, Maysoon [5]
;
Capo, Ivan [6]
;
van der Linde, Herma C. [7]
;
van den Berg, Paul [8]
;
Jacobs, Edwin H. [9]
;
Putar, Darija [10]
;
Ghazvini, Mehrnaz [11]
;
Aronica, Eleonora [12]
;
van IJcken, Wilfred F. J. [13]
;
de Valk, Walter G. [14]
;
Medici-van den Herik, Evita [15]
;
van Slegtenhorst, Marjon [16]
;
Brick, Lauren [17]
;
Kozenko, Mariya [18]
;
Kohler, Jennefer N. [19]
;
Bernstein, Jonathan A. [20]
;
Monaghan, Kristin G. [21]
;
Begtrup, Amber [22]
;
Torene, Rebecca [23]
;
Al Futaisi, Amna [24]
;
Al Murshedi, Fathiya [25]
;
Mani, Renjith [26]
;
Al Azri, Faisal [27]
;
Kamsteeg, Erik-Jan [28]
;
Mojarrad, Majid [29]
;
Eslahi, Atieh [30]
;
Khazaei, Zaynab [31]
;
Darmiyan, Fateme Massinaei [32]
;
Doosti, Mohammad [33]
;
Karimiani, Ehsan Ghayoor [34]
;
Vandrovcova, Jana [35]
;
Zafar, Faisal [36]
;
Rana, Nuzhat ;
Kandaswamy, Krishna K. ;
Hertecant, Jozef ;
Bauer, Peter ;
AlMuhaizea, Mohammed A. ;
Salih, Mustafa A. ;
Aldosary, Mazhor ;
Almass, Rawan ;
Al-Quait, Laila ;
Qubbaj, Wafa ;
Coskun, Serdar ;
Alahmadi, Khaled O. ;
Hamad, Muddathir H. A. ;
Alwadaee, Salem ;
Awartani, Khalid ;
Dababo, Anas M. ;
Almohanna, Futwan ;
Colak, Dilek ;
Dehghani, Mohammadreza ;
Mehrjardi, Mohammad Yahya Vahidi ;
Gunel, Murat ;
Ercan-Sencicek, A. Gulhan ;
Passi, Gouri Rao ;
Cheema, Huma Arshad ;
Efthymiou, Stephanie ;
Houlden, Henry ;
Bertoli-Avella, Aida M. ;
Brooks, Alice S. ;
Retterer, Kyle ;
Maroofian, Reza ;
Kaya, Namik ;
van Ham, Tjakko J. ;
Barakat, Tahsin Stefan
作者单位：
Childrens Hosp, Dept Paediat Neurol, Multan 60000, Pakistan
[1]
King Faisal Specialist Hosp & Res Ctr, Dept Biostat Epidemiol & Sci Comp, Riyadh 11211, Saudi Arabia
[2]
Erasmus MC, Univ Med Ctr Rotterdam, Dept Neurol, Rotterdam, Netherlands
[3]
Sultan Qaboos Univ Hosp, Genet & Dev Med Clin, Muscat, Oman
[4]
King Faisal Specialist Hosp & Res Ctr, Dept Radiol, Riyadh 11211, Saudi Arabia
[5]
Erasmus MC, Univ Med Ctr Rotterdam, Ctr Biom, Dept Cell Biol, Rotterdam, Netherlands
[6]
King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Riyadh 11211, Saudi Arabia
[7]
Choithram Hosp & Res Ctr, Pediat Neurol Clin, Dept Pediat, Indore, Madhya Pradesh, India
[8]
Erasmus MC, Univ Med Ctr, IPS Cell Core Facil, Rotterdam, Netherlands
[9]
Mashhad Univ Med Sci, Fac Med, Dept Med Genet, Mashhad, Razavi Khorasan, Iran
[10]
Welf Org Sistan & Baluchestan, Genet Counseling Ctr, Zahedan, Iran
[11]
King Faisal Specialist Hosp & Res Ctr, Dept Cell Biol, Riyadh 11211, Saudi Arabia
[12]
Stanford Univ, Sch Med, Div Cardiovasc Med, Stanford, CA 94035 USA
[13]
McMaster Childrens Hosp, Div Genet, Hamilton, ON L8S 4J9, Canada
[14]
UAE Univ Al Ain, Tawam Hosp, Dept Pediat, Al Ain, U Arab Emirates
[15]
Erasmus MC, Univ Med Ctr, Dept Clin Genet, Rotterdam, Netherlands
[16]
Sultan Qaboos Univ, Coll Med & Hlth Sci, Dept Child Hlth, Muscat, Oman
[17]
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
[18]
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands
[19]
Shahid Sadoughi Univ Med Sci, Diabet Res Ctr, Yazd, Iran
[20]
Univ Novi Sad, Fac Med Novi Sad, Dept Histol & Embryol, Novi Sad, Serbia
[21]
St Georges Univ London, Mol & Clin Sci Inst, Cranmer Terrace, London SW17 0RE, England
[22]
CENTOGENE AG, Rostock, Germany
[23]
GeneDx, Gaithersburg, MD 20877 USA
[24]
Stanford Univ, Sch Med, Dept Pediat, Div Med Genet, Stanford, CA 94035 USA
[25]
Univ Amsterdam, Amsterdam UMC, Amsterdam Neurosci, Dept Neuropathol, Amsterdam, Netherlands
[26]
King Faisal Specialist Hosp & Res Ctr, Dept Pathol & Lab Med, Riyadh 11211, Saudi Arabia
[27]
Childrens Hosp, Dept Pediat Gastroenterol, Lahore, Pakistan
[28]
King Saud Univ, Coll Med, Dept Pediat, Div Neurol, Riyadh 11461, Saudi Arabia
[29]
UCL Queen Sq Inst Neurol, Dept Neuromusc Disorders, London WC1N 3BG, England
[30]
King Faisal Specialist Hosp & Res Ctr, Dept Obstet Gynecol, Riyadh 11211, Saudi Arabia
[31]
Genet Ctr Khorasan Razavi, Mashhad, Razavi Khorasan, Iran
[32]
Shahid Sadoughi Univ Med Sci, Med Genet Res Ctr, Yazd, Iran
[33]
Sultan Qaboos Univ Hosp, Dept Radiol & Mol Imaging, Muscat, Oman
[34]
Yale Univ, Yale Sch Med, Dept Neurosurg, Program Neurogenet, New Haven, CT USA
[35]
Next Generat Genet Polyclin, Dept Med Genet, Mashhad, Razavi Khorasan, Iran
[36]
发布时间
2020-06-03
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Acta Neuropathologica
Acta Neuropathologica
415-442页
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