132 related articles for article (PubMed ID: 38179855)
21. Nucleoporins and nucleocytoplasmic transport in hematologic malignancies.
Takeda A; Yaseen NR
Semin Cancer Biol; 2014 Aug; 27():3-10. PubMed ID: 24657637
[TBL] [Abstract][Full Text] [Related]
22. Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy.
Majethia P; Do Rosario MC; Kaur P; Karanvir ; Shankar R; Sharma S; Siddiqui S; Shukla A
Ann Hum Genet; 2022 Mar; 86(2):94-101. PubMed ID: 34878169
[TBL] [Abstract][Full Text] [Related]
23. De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum.
Giacomini T; Scala M; Nobile G; Severino M; Tortora D; Nobili L; Accogli A; Torella A; Capra V; Mancardi MM; Nigro V;
Brain Dev; 2022 Aug; 44(7):480-485. PubMed ID: 35461703
[TBL] [Abstract][Full Text] [Related]
24. [Clinical and genetic spectrum of 6 cases with asparagine synthetase deficiency].
Song PP; Zhang XL; Li XL; Xu D; Wang JL; Chu MM; Wang MY; Jia TM; Du KX; Dong Y
Zhonghua Er Ke Za Zhi; 2024 Mar; 62(4):368-373. PubMed ID: 38527509
[No Abstract] [Full Text] [Related]
25. Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature.
Aslanger AD; Demiral E; Sonmez-Sahin S; Guler S; Goncu B; Yucesan E; Iscan A; Saltik S; Yesil G
Neuropediatrics; 2020 Dec; 51(6):430-434. PubMed ID: 32369837
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.
Hebbar M; Girisha KM; Srivastava A; Bielas S; Shukla A
Eur J Med Genet; 2017 Oct; 60(10):533-535. PubMed ID: 28711739
[TBL] [Abstract][Full Text] [Related]
28. Nup214 is required for CRM1-dependent nuclear protein export in vivo.
Hutten S; Kehlenbach RH
Mol Cell Biol; 2006 Sep; 26(18):6772-85. PubMed ID: 16943420
[TBL] [Abstract][Full Text] [Related]
29. Inhibition of nucleoporin member Nup214 expression by miR-133b perturbs mitotic timing and leads to cell death.
Bhattacharjya S; Roy KS; Ganguly A; Sarkar S; Panda CK; Bhattacharyya D; Bhattacharyya NP; Roychoudhury S
Mol Cancer; 2015 Feb; 14():42. PubMed ID: 25743594
[TBL] [Abstract][Full Text] [Related]
30. Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.
Zanni G; De Magistris P; Nardella M; Bellacchio E; Barresi S; Sferra A; Ciolfi A; Motta M; Lue H; Moreno-Andres D; Tartaglia M; Bertini E; Antonin W
Cerebellum; 2019 Jun; 18(3):422-432. PubMed ID: 30741391
[TBL] [Abstract][Full Text] [Related]
31. De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
Fassio A; Esposito A; Kato M; Saitsu H; Mei D; Marini C; Conti V; Nakashima M; Okamoto N; Olmez Turker A; Albuz B; Semerci Gündüz CN; Yanagihara K; Belmonte E; Maragliano L; Ramsey K; Balak C; Siniard A; Narayanan V; ; Ohba C; Shiina M; Ogata K; Matsumoto N; Benfenati F; Guerrini R
Brain; 2018 Jun; 141(6):1703-1718. PubMed ID: 29668857
[TBL] [Abstract][Full Text] [Related]
32. Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature.
Sharma Y; Saini AG; Kaur R; Bhatia V; Didwal G; Kumar P; Uppala R
Neuropediatrics; 2022 Jun; 53(3):167-175. PubMed ID: 35098521
[TBL] [Abstract][Full Text] [Related]
33. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Bar C; Kuchenbuch M; Barcia G; Schneider A; Jennesson M; Le Guyader G; Lesca G; Mignot C; Montomoli M; Parrini E; Isnard H; Rolland A; Keren B; Afenjar A; Dorison N; Sadleir LG; Breuillard D; Levy R; Rio M; Dupont S; Negrin S; Danieli A; Scalais E; De Saint Martin A; El Chehadeh S; Chelly J; Poisson A; Lebre AS; Nica A; Odent S; Sekhara T; Brankovic V; Goldenberg A; Vrielynck P; Lederer D; Maurey H; Terrone G; Besmond C; Hubert L; Berquin P; Billette de Villemeur T; Isidor B; Freeman JL; Mefford HC; Myers CT; Howell KB; Rodríguez-Sacristán Cascajo A; Meyer P; Genevieve D; Guët A; Doummar D; Durigneux J; van Dooren MF; de Wit MCY; Gerard M; Marey I; Munnich A; Guerrini R; Scheffer IE; Kabashi E; Nabbout R
Epilepsia; 2020 Nov; 61(11):2461-2473. PubMed ID: 32954514
[TBL] [Abstract][Full Text] [Related]
34. Delineating the phenotype of PNPLA8-related mitochondriopathies.
Abdel-Hamid MS; Abdel-Salam GMH; Abdel-Ghafar SF; Zaki MS
Clin Genet; 2024 Jan; 105(1):92-98. PubMed ID: 37671596
[TBL] [Abstract][Full Text] [Related]
35. De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Manivannan SN; Roovers J; Smal N; Myers CT; Turkdogan D; Roelens F; Kanca O; Chung HL; Scholz T; Hermann K; Bierhals T; Caglayan HS; Stamberger H; ; Mefford H; de Jonghe P; Yamamoto S; Weckhuysen S; Bellen HJ
Brain; 2022 Jun; 145(5):1684-1697. PubMed ID: 34788397
[TBL] [Abstract][Full Text] [Related]
36. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Shashi V; Schoch K; Ganetzky R; Kranz PG; Sondheimer N; Markert ML; Cope H; Sadeghpour A; Roehrs P; Arbogast T; Muraresku C; ; Tyndall AV; Esser MJ; Woodward KE; Ping-Yee Au B; Parboosingh JS; Lamont RE; Bernier FP; Wright NAM; Benseler SM; Parsons SJ; El-Dairi M; Smith EC; Valdez P; Tennison M; Innes AM; Davis EE
Genet Med; 2023 Sep; 25(9):100897. PubMed ID: 37191094
[TBL] [Abstract][Full Text] [Related]
37. [Early onset epileptic encephalopathy caused by mitochondrial arginyl-tRNA synthetase gene deficiency: report of two cases and literature review].
Jiang HF; Deng J; Fang F; Li H; Wang XH; Dai LF
Zhonghua Er Ke Za Zhi; 2020 Nov; 58(11):893-899. PubMed ID: 33120460
[No Abstract] [Full Text] [Related]
38. NUP214 in Leukemia: It's More than Transport.
Mendes A; Fahrenkrog B
Cells; 2019 Jan; 8(1):. PubMed ID: 30669574
[TBL] [Abstract][Full Text] [Related]
39. De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Chemin J; Siquier-Pernet K; Nicouleau M; Barcia G; Ahmad A; Medina-Cano D; Hanein S; Altin N; Hubert L; Bole-Feysot C; Fourage C; Nitschké P; Thevenon J; Rio M; Blanc P; Vidal C; Bahi-Buisson N; Desguerre I; Munnich A; Lyonnet S; Boddaert N; Fassi E; Shinawi M; Zimmerman H; Amiel J; Faivre L; Colleaux L; Lory P; Cantagrel V
Brain; 2018 Jul; 141(7):1998-2013. PubMed ID: 29878067
[TBL] [Abstract][Full Text] [Related]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
