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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. [electronic resource] by
- Perenthaler, Elena
- Nikoncuk, Anita
- Yousefi, Soheil
- Berdowski, Woutje M
- Alsagob, Maysoon
- Capo, Ivan
- van der Linde, Herma C
- van den Berg, Paul
- Jacobs, Edwin H
- Putar, Darija
- Ghazvini, Mehrnaz
- Aronica, Eleonora
- van IJcken, Wilfred F J
- de Valk, Walter G
- Medici-van den Herik, Evita
- van Slegtenhorst, Marjon
- Brick, Lauren
- Kozenko, Mariya
- Kohler, Jennefer N
- Bernstein, Jonathan A
- Monaghan, Kristin G
- Begtrup, Amber
- Torene, Rebecca
- Al Futaisi, Amna
- Al Murshedi, Fathiya
- Mani, Renjith
- Al Azri, Faisal
- Kamsteeg, Erik-Jan
- Mojarrad, Majid
- Eslahi, Atieh
- Khazaei, Zaynab
- Darmiyan, Fateme Massinaei
- Doosti, Mohammad
- Karimiani, Ehsan Ghayoor
- Vandrovcova, Jana
- Zafar, Faisal
- 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
Producer: 20210517
In:
Acta neuropathologica vol. 139
Availability: No items available.
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74.
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The Fault in Their Stars-Accumulating Astrocytic Inclusions Associated With Clusters of Epileptic Spasms in Children With Global Developmental Delay. [electronic resource] by
- Whitney, Robyn
- AlMehmadi, Sameer
- McCoy, Bláthnaid
- Yau, Ivanna
- Ochi, Ayako
- Otsubo, Hiroshi
- Weiss, Shelly K
- Rutka, James
- Hazrati, Lili-Naz
- Snead, O Carter
- Go, Cristina
Producer: 20180413
In:
Pediatric neurology vol. 73
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75.
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Site-specific abnormalities in the visual system of a mouse model of CDKL5 deficiency disorder. [electronic resource] by
- Lupori, Leonardo
- Sagona, Giulia
- Fuchs, Claudia
- Mazziotti, Raffaele
- Stefanov, Antonia
- Putignano, Elena
- Napoli, Debora
- Strettoi, Enrica
- Ciani, Elisabetta
- Pizzorusso, Tommaso
Producer: 20200309
In:
Human molecular genetics vol. 28
Availability: No items available.
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76.
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Large-scale structural alteration of brain in epileptic children with [electronic resource] by
- Lee, Yun-Jeong
- Yum, Mi-Sun
- Kim, Min-Jee
- Shim, Woo-Hyun
- Yoon, Hee Mang
- Yoo, Il Han
- Lee, Jiwon
- Lim, Byung Chan
- Kim, Ki Joong
- Ko, Tae-Sung
Producer: 20180417
In:
NeuroImage. Clinical vol. 15
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78.
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Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy. [electronic resource] by
- Kanani, Farah
- Titheradge, Hannah
- Cooper, Nicola
- Elmslie, Frances
- Lees, Melissa M
- Juusola, Jane
- Pisani, Laura
- McKenna, Carolyn
- Mignot, Cyril
- Valence, Stephanie
- Keren, Boris
- Lachlan, Katherine
- Balasubramanian, Meena
Producer: 20210203
In:
American journal of medical genetics. Part A vol. 182
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79.
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Modifier genes in SCN1A-related epilepsy syndromes. [electronic resource] by
- de Lange, Iris M
- Mulder, Flip
- van 't Slot, Ruben
- Sonsma, Anja C M
- van Kempen, Marjan J A
- Nijman, Isaac J
- Ernst, Robert F
- Knoers, Nine V A M
- Brilstra, Eva H
- Koeleman, Bobby P C
Producer: 20210402
In:
Molecular genetics & genomic medicine vol. 8
Availability: No items available.
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