159 related articles for article (PubMed ID: 22134833)
1. COL4A1 mutations associated with a characteristic pattern of intracranial calcification.
Livingston J; Doherty D; Orcesi S; Tonduti D; Piechiecchio A; La Piana R; Tournier-Lasserve E; Majumdar A; Tomkins S; Rice G; Kneen R; van der Knaap M; Crow Y
Neuropediatrics; 2011 Dec; 42(6):227-33. PubMed ID: 22134833
[TBL] [Abstract][Full Text] [Related]
2. Recognizable phenotypes associated with intracranial calcification.
Livingston JH; Stivaros S; van der Knaap MS; Crow YJ
Dev Med Child Neurol; 2013 Jan; 55(1):46-57. PubMed ID: 23121296
[TBL] [Abstract][Full Text] [Related]
3. COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.
Tonduti D; Pichiecchio A; La Piana R; Livingston JH; Doherty DA; Majumdar A; Tomkins S; Mine M; Ceroni M; Ricca I; Balottin U; Orcesi S
Neuropediatrics; 2012 Oct; 43(5):283-8. PubMed ID: 22932948
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Radiologic diagnosis of periventricular leukomalacia.
Flodmark O; Roland E; Hill A; Whitfield M
Acta Radiol Suppl; 1986; 369():664-6. PubMed ID: 2980588
[TBL] [Abstract][Full Text] [Related]
7. MR imaging of periventricular leukomalacia in childhood.
Flodmark O; Lupton B; Li D; Stimac GK; Roland EH; Hill A; Whitfield MF; Norman MG
AJR Am J Roentgenol; 1989 Mar; 152(3):583-90. PubMed ID: 2783813
[TBL] [Abstract][Full Text] [Related]
8. Lack of progression of brain atrophy in Aicardi-Goutières syndrome.
Polizzi A; Pavone P; Parano E; Incorpora G; Ruggieri M
Pediatr Neurol; 2001 Apr; 24(4):300-2. PubMed ID: 11377106
[TBL] [Abstract][Full Text] [Related]
9. Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes.
Livingston JH; Stivaros S; Warren D; Crow YJ
Dev Med Child Neurol; 2014 Jul; 56(7):612-26. PubMed ID: 24372060
[TBL] [Abstract][Full Text] [Related]
10. Childhood presentation of COL4A1 mutations.
Shah S; Ellard S; Kneen R; Lim M; Osborne N; Rankin J; Stoodley N; van der Knaap M; Whitney A; Jardine P
Dev Med Child Neurol; 2012 Jun; 54(6):569-74. PubMed ID: 22574627
[TBL] [Abstract][Full Text] [Related]
11. Congenital cytomegalovirus infection of the brain: imaging analysis and embryologic considerations.
Barkovich AJ; Lindan CE
AJNR Am J Neuroradiol; 1994 Apr; 15(4):703-15. PubMed ID: 8010273
[TBL] [Abstract][Full Text] [Related]
12. COL4A2 mutation associated with familial porencephaly and small-vessel disease.
Verbeek E; Meuwissen ME; Verheijen FW; Govaert PP; Licht DJ; Kuo DS; Poulton CJ; Schot R; Lequin MH; Dudink J; Halley DJ; de Coo RI; den Hollander JC; Oegema R; Gould DB; Mancini GM
Eur J Hum Genet; 2012 Aug; 20(8):844-51. PubMed ID: 22333902
[TBL] [Abstract][Full Text] [Related]
13. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
Breedveld G; de Coo IF; Lequin MH; Arts WF; Heutink P; Gould DB; John SW; Oostra B; Mancini GM
J Med Genet; 2006 Jun; 43(6):490-5. PubMed ID: 16107487
[TBL] [Abstract][Full Text] [Related]
14. Periventricular leukomalacia: radiologic diagnosis.
Flodmark O; Roland EH; Hill A; Whitfield MF
Radiology; 1987 Jan; 162(1 Pt 1):119-24. PubMed ID: 3538143
[TBL] [Abstract][Full Text] [Related]
15. CT and MR evaluation of intracranial involvement in pediatric HIV infection: a clinical-imaging correlation.
Kauffman WM; Sivit CJ; Fitz CR; Rakusan TA; Herzog K; Chandra RS
AJNR Am J Neuroradiol; 1992; 13(3):949-57. PubMed ID: 1590197
[TBL] [Abstract][Full Text] [Related]
16. Progressive cerebral atrophies in three children with COL4A1 mutations.
Nakamura Y; Okanishi T; Yamada H; Okazaki T; Hosoda C; Itai T; Miyatake S; Saitsu H; Matsumoto N; Maegaki Y
Brain Dev; 2021 Nov; 43(10):1033-1038. PubMed ID: 34281745
[TBL] [Abstract][Full Text] [Related]
17. Intracranial calcifications in childhood: Part 2.
Gonçalves FG; Caschera L; Teixeira SR; Viaene AN; Pinelli L; Mankad K; Alves CAPF; Ortiz-Gonzalez XR; Andronikou S; Vossough A
Pediatr Radiol; 2020 Sep; 50(10):1448-1475. PubMed ID: 32642802
[TBL] [Abstract][Full Text] [Related]
18. Further refinement of COL4A1 and COL4A2 related cortical malformations.
Cavallin M; Mine M; Philbert M; Boddaert N; Lepage JM; Coste T; Lopez-Gonzalez V; Sanchez-Soler MJ; Ballesta-Martínez MJ; Remerand G; Pasquier L; Guët A; Chelly J; Lascelles K; Prieto-Morin C; Kossorotoff M; Tournier Lasserve E; Bahi-Buisson N
Eur J Med Genet; 2018 Dec; 61(12):765-772. PubMed ID: 30315939
[TBL] [Abstract][Full Text] [Related]
19. Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.
Tonduti D; Orcesi S; Jenkinson EM; Dorboz I; Renaldo F; Panteghini C; Rice GI; Henneke M; Livingston JH; Elmaleh M; Burglen L; Willemsen MA; Chiapparini L; Garavaglia B; Rodriguez D; Boespflug-Tanguy O; Moroni I; Crow YJ
Eur J Paediatr Neurol; 2016 Jul; 20(4):604-10. PubMed ID: 27091087
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
