198 related articles for article (PubMed ID: 30078785)
1. Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive.
Daida A; Hamano SI; Ikemoto S; Matsuura R; Nakashima M; Matsumoto N; Kato M
Epileptic Disord; 2018 Aug; 20(4):313-318. PubMed ID: 30078785
[TBL] [Abstract][Full Text] [Related]
2. Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
Arnadottir GA; Jensson BO; Marelsson SE; Sulem G; Oddsson A; Kristjansson RP; Benonisdottir S; Gudjonsson SA; Masson G; Thorisson GA; Saemundsdottir J; Magnusson OT; Jonasdottir A; Jonasdottir A; Sigurdsson A; Gudbjartsson DF; Thorsteinsdottir U; Arngrimsson R; Sulem P; Stefansson K
BMC Med Genet; 2017 Oct; 18(1):103. PubMed ID: 28965491
[TBL] [Abstract][Full Text] [Related]
3. Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.
Muona M; Ishimura R; Laari A; Ichimura Y; Linnankivi T; Keski-Filppula R; Herva R; Rantala H; Paetau A; Pöyhönen M; Obata M; Uemura T; Karhu T; Bizen N; Takebayashi H; McKee S; Parker MJ; Akawi N; McRae J; Hurles ME; ; Kuismin O; Kurki MI; Anttonen AK; Tanaka K; Palotie A; Waguri S; Lehesjoki AE; Komatsu M
Am J Hum Genet; 2016 Sep; 99(3):683-694. PubMed ID: 27545674
[TBL] [Abstract][Full Text] [Related]
4. Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst.
Mignon-Ravix C; Milh M; Kaiser CS; Daniel J; Riccardi F; Cacciagli P; Nagara M; Busa T; Liebau E; Villard L
Hum Mutat; 2018 Jul; 39(7):934-938. PubMed ID: 29663568
[TBL] [Abstract][Full Text] [Related]
5. A description of novel variants and review of phenotypic spectrum in
Briere LC; Walker MA; High FA; Cooper C; Rogers CA; Callahan CJ; Ishimura R; Ichimura Y; Caruso PA; Sharma N; Brokamp E; Koziura ME; Mohammad SS; Dale RC; Riley LG; ; Phillips JA; Komatsu M; Sweetser DA
Cold Spring Harb Mol Case Stud; 2021 Jun; 7(3):. PubMed ID: 33811063
[TBL] [Abstract][Full Text] [Related]
6. Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Colin E; Daniel J; Ziegler A; Wakim J; Scrivo A; Haack TB; Khiati S; Denommé AS; Amati-Bonneau P; Charif M; Procaccio V; Reynier P; Aleck KA; Botto LD; Herper CL; Kaiser CS; Nabbout R; N'Guyen S; Mora-Lorca JA; Assmann B; Christ S; Meitinger T; Strom TM; Prokisch H; ; Miranda-Vizuete A; Hoffmann GF; Lenaers G; Bomont P; Liebau E; Bonneau D
Am J Hum Genet; 2016 Sep; 99(3):695-703. PubMed ID: 27545681
[TBL] [Abstract][Full Text] [Related]
7. Allelic strengths of encephalopathy-associated
Pan X; Alvarez AN; Ma M; Lu S; Crawford MW; Briere LC; Kanca O; Yamamoto S; Sweetser DA; Wilson JL; Napier RJ; Pruneda JN; Bellen HJ
Elife; 2023 Dec; 12():. PubMed ID: 38079206
[TBL] [Abstract][Full Text] [Related]
8. UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia.
Duan R; Shi Y; Yu L; Zhang G; Li J; Lin Y; Guo J; Wang J; Shen L; Jiang H; Wang G; Tang B
PLoS One; 2016; 11(2):e0149039. PubMed ID: 26872069
[TBL] [Abstract][Full Text] [Related]
9. Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination.
Aizaki K; Sugai K; Saito Y; Nakagawa E; Sasaki M; Aoki Y; Matsubara Y
Brain Dev; 2011 Feb; 33(2):166-9. PubMed ID: 20395089
[TBL] [Abstract][Full Text] [Related]
10. Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay.
Low KJ; Baptista J; Babiker M; Caswell R; King C; Ellard S; Scurr I
Eur J Med Genet; 2019 Feb; 62(2):97-102. PubMed ID: 29902590
[No Abstract] [Full Text] [Related]
11. The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Datta AN; Bahi-Buisson N; Bienvenu T; Buerki SE; Gardiner F; Cross JH; Heron B; Kaminska A; Korff CM; Lepine A; Lesca G; McTague A; Mefford HC; Mignot C; Milh M; Piton A; Pressler RM; Ruf S; Sadleir LG; de Saint Martin A; Van Gassen K; Verbeek NE; Ville D; Villeneuve N; Zacher P; Scheffer IE; Lemke JR
Epilepsia; 2021 Feb; 62(2):325-334. PubMed ID: 33410528
[TBL] [Abstract][Full Text] [Related]
12. A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.
Nevanlinna V; Konovalova S; Ceulemans B; Muona M; Laari A; Hilander T; Gorski K; Valanne L; Anttonen AK; Tyynismaa H; Courage C; Lehesjoki AE
Eur J Med Genet; 2020 Mar; 63(3):103766. PubMed ID: 31536827
[TBL] [Abstract][Full Text] [Related]
13. Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation.
Xixis KI; Mikati MA
Epileptic Disord; 2015 Dec; 17(4):467-72. PubMed ID: 26609730
[TBL] [Abstract][Full Text] [Related]
14. Quinidine therapy for West syndrome with KCNTI mutation: A case report.
Fukuoka M; Kuki I; Kawawaki H; Okazaki S; Kim K; Hattori Y; Tsuji H; Nukui M; Inoue T; Yoshida Y; Uda T; Kimura S; Mogami Y; Suzuki Y; Okamoto N; Saitsu H; Matsumoto N
Brain Dev; 2017 Jan; 39(1):80-83. PubMed ID: 27578169
[TBL] [Abstract][Full Text] [Related]
15. West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations.
Shaukat Q; Hertecant J; El-Hattab AW; Ali BR; Suleiman J
Epileptic Disord; 2018 Oct; 20(5):401-412. PubMed ID: 30361190
[TBL] [Abstract][Full Text] [Related]
16. WDR45 mutations in three male patients with West syndrome.
Nakashima M; Takano K; Tsuyusaki Y; Yoshitomi S; Shimono M; Aoki Y; Kato M; Aida N; Mizuguchi T; Miyatake S; Miyake N; Osaka H; Saitsu H; Matsumoto N
J Hum Genet; 2016 Jul; 61(7):653-61. PubMed ID: 27030146
[TBL] [Abstract][Full Text] [Related]
17. Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy.
Al-Saady ML; Kaiser CS; Wakasuqui F; Korenke GC; Waisfisz Q; Polstra A; Pouwels PJW; Bugiani M; van der Knaap MS; Lunsing RJ; Liebau E; Wolf NI
Neuropediatrics; 2021 Dec; 52(6):489-494. PubMed ID: 33853163
[TBL] [Abstract][Full Text] [Related]
18. Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
Nahorski MS; Maddirevula S; Ishimura R; Alsahli S; Brady AF; Begemann A; Mizushima T; Guzmán-Vega FJ; Obata M; Ichimura Y; Alsaif HS; Anazi S; Ibrahim N; Abdulwahab F; Hashem M; Monies D; Abouelhoda M; Meyer BF; Alfadhel M; Eyaid W; Zweier M; Steindl K; Rauch A; Arold ST; Woods CG; Komatsu M; Alkuraya FS
Brain; 2018 Jul; 141(7):1934-1945. PubMed ID: 29868776
[TBL] [Abstract][Full Text] [Related]
19. Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter.
Tohyama J; Akasaka N; Osaka H; Maegaki Y; Kato M; Saito N; Yamashita S; Ohno K
Brain Dev; 2008 May; 30(5):349-55. PubMed ID: 18065176
[TBL] [Abstract][Full Text] [Related]
20. Preliminary report for Epilepsia Open A case of West syndrome with severe global developmental delay and confirmed KIF5A gene variant.
Fukuoka M; Okazaki S; Kim K; Nukui M; Inoue T; Kuki I; Kawawaki H; Nakashima M; Matsumoto N
Epilepsia Open; 2021 Mar; 6(1):230-234. PubMed ID: 33681666
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]