152 related articles for article (PubMed ID: 32446163)
1. Phenotypic characterization of COL4A1-related West syndrome.
Wang QH; Zou LP; Zhang MN; Wang YY; Lu Q; Shen YW; He W; Chen HM; Luo XM; Wang J; Zhang TT
Epilepsy Res; 2020 Aug; 164():106349. PubMed ID: 32446163
[TBL] [Abstract][Full Text] [Related]
2. The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME; Halley DJ; Smit LS; Lequin MH; Cobben JM; de Coo R; van Harssel J; Sallevelt S; Woldringh G; van der Knaap MS; de Vries LS; Mancini GM
Genet Med; 2015 Nov; 17(11):843-53. PubMed ID: 25719457
[TBL] [Abstract][Full Text] [Related]
3. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.
Gould DB; Phalan FC; Breedveld GJ; van Mil SE; Smith RS; Schimenti JC; Aguglia U; van der Knaap MS; Heutink P; John SW
Science; 2005 May; 308(5725):1167-71. PubMed ID: 15905400
[TBL] [Abstract][Full Text] [Related]
4. COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.
Weng YC; Sonni A; Labelle-Dumais C; de Leau M; Kauffman WB; Jeanne M; Biffi A; Greenberg SM; Rosand J; Gould DB
Ann Neurol; 2012 Apr; 71(4):470-7. PubMed ID: 22522439
[TBL] [Abstract][Full Text] [Related]
5. Leukoencephalopathy with spot-like calcifications caused by recessive COL4A2 variants.
Nicita F; Aiello C; Carboni A; Longo D; Bertini E; Travaglini L
Clin Neurol Neurosurg; 2023 Feb; 225():107584. PubMed ID: 36603335
[TBL] [Abstract][Full Text] [Related]
6. Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRI.
Vermeulen RJ; Peeters-Scholte C; Van Vugt JJ; Barkhof F; Rizzu P; van der Schoor SR; van der Knaap MS
Neuropediatrics; 2011 Feb; 42(1):1-3. PubMed ID: 21500141
[TBL] [Abstract][Full Text] [Related]
7. De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature.
Kinoshita K; Ishizaki Y; Yamamoto H; Sonoda M; Yonemoto K; Kira R; Sanefuji M; Ueda A; Matsui H; Ando Y; Sakai Y; Ohga S
Eur J Med Genet; 2020 Apr; 63(4):103825. PubMed ID: 31857254
[TBL] [Abstract][Full Text] [Related]
8. COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.
de Vries LS; Koopman C; Groenendaal F; Van Schooneveld M; Verheijen FW; Verbeek E; Witkamp TD; van der Worp HB; Mancini G
Ann Neurol; 2009 Jan; 65(1):12-8. PubMed ID: 19194877
[TBL] [Abstract][Full Text] [Related]
9. A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations?
Değerliyurt A; Ceylaner G; Koçak H; Bilginer Gürbüz B; Cihan BS; Rizzu P; Ceylaner S
Genet Couns; 2012; 23(2):185-93. PubMed ID: 22876576
[TBL] [Abstract][Full Text] [Related]
10. Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly.
Meuwissen ME; de Vries LS; Verbeek HA; Lequin MH; Govaert PP; Schot R; Cowan FM; Hennekam R; Rizzu P; Verheijen FW; Wessels MW; Mancini GM
Neurology; 2011 Mar; 76(9):844-6. PubMed ID: 21357838
[No Abstract] [Full Text] [Related]
11. Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions.
Maurice P; Guilbaud L; Garel J; Mine M; Dugas A; Friszer S; Maisonneuve E; Moutard ML; Coste T; Héron D; Tournier-Lasserve E; Garel C; Jouannic JM
Ultrasound Obstet Gynecol; 2021 May; 57(5):783-789. PubMed ID: 32515830
[TBL] [Abstract][Full Text] [Related]
12. COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.
Vahedi K; Kubis N; Boukobza M; Arnoult M; Massin P; Tournier-Lasserve E; Bousser MG
Stroke; 2007 May; 38(5):1461-4. PubMed ID: 17379824
[TBL] [Abstract][Full Text] [Related]
13. Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.
Yoneda Y; Haginoya K; Kato M; Osaka H; Yokochi K; Arai H; Kakita A; Yamamoto T; Otsuki Y; Shimizu S; Wada T; Koyama N; Mino Y; Kondo N; Takahashi S; Hirabayashi S; Takanashi J; Okumura A; Kumagai T; Hirai S; Nabetani M; Saitoh S; Hattori A; Yamasaki M; Kumakura A; Sugo Y; Nishiyama K; Miyatake S; Tsurusaki Y; Doi H; Miyake N; Matsumoto N; Saitsu H
Ann Neurol; 2013 Jan; 73(1):48-57. PubMed ID: 23225343
[TBL] [Abstract][Full Text] [Related]
14. Spectrum of Fetal Intraparenchymal Hemorrhage in COL4A1/A2-Related Disorders.
George E; Vassar R; Mogga A; Li Y; Norton ME; Gano D; Glenn OA
Pediatr Neurol; 2023 Oct; 147():63-67. PubMed ID: 37562171
[TBL] [Abstract][Full Text] [Related]
15. Expanding the phenotype of COL4A1-related disorders-Four novel variants.
Nishimura N; Kumaki T; Murakami H; Enomoto Y; Tsurusaki Y; Tsuji M; Tsuyusaki Y; Goto T; Aida N; Kurosawa K
Brain Dev; 2020 Oct; 42(9):639-645. PubMed ID: 32565002
[TBL] [Abstract][Full Text] [Related]
16. Fetal intracerebral hemorrhage and cataract: think COL4A1.
Colin E; Sentilhes L; Sarfati A; Mine M; Guichet A; Ploton C; Boussion F; Delorme B; Tournier-Lasserve E; Bonneau D
J Perinatol; 2014 Jan; 34(1):75-7. PubMed ID: 24374867
[TBL] [Abstract][Full Text] [Related]
17. Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation.
Hino-Fukuyo N; Kikuchi A; Iwasaki M; Sato Y; Kubota Y; Kobayashi T; Nakayama T; Haginoya K; Arai-Ichinoi N; Niihori T; Sato R; Suzuki T; Kudo H; Funayama R; Nakayama K; Aoki Y; Kure S
Brain Dev; 2017 Apr; 39(4):337-340. PubMed ID: 27916450
[TBL] [Abstract][Full Text] [Related]
18. Periventricular leukomalacia and West syndrome.
Okumura A; Hayakawa F; Kuno K; Watanabe K
Dev Med Child Neurol; 1996 Jan; 38(1):13-8. PubMed ID: 8606011
[TBL] [Abstract][Full Text] [Related]
19. Late-Onset COL4A1 Mutation with Recurrent Ischemic and Hemorrhagic Strokes.
Lee JJ; Patel S; Hinman JD
Neurologist; 2024 Jan; 29(1):1-3. PubMed ID: 37582654
[TBL] [Abstract][Full Text] [Related]
20. Two families with novel missense mutations in COL4A1: When diagnosis can be missed.
Giorgio E; Vaula G; Bosco G; Giacone S; Mancini C; Calcia A; Cavalieri S; Di Gregorio E; Rigault De Longrais R; Leombruni S; Pinessi L; Cerrato P; Brusco A; Brussino A
J Neurol Sci; 2015 May; 352(1-2):99-104. PubMed ID: 25873210
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]