158 related articles for article (PubMed ID: 34353862)
1.
Gana S; Casella A; Cociglio S; Tartara E; Rognone E; Giorgio E; Pichiecchio A; Orcesi S; Valente EM
J Med Genet; 2022 Aug; 59(8):781-784. PubMed ID: 34353862
[TBL] [Abstract][Full Text] [Related]
2. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Conti V; Carabalona A; Pallesi-Pocachard E; Parrini E; Leventer RJ; Buhler E; McGillivray G; Michel FJ; Striano P; Mei D; Watrin F; Lise S; Pagnamenta AT; Taylor JC; Kini U; Clayton-Smith J; Novara F; Zuffardi O; Dobyns WB; Scheffer IE; Robertson SP; Berkovic SF; Represa A; Keays DA; Cardoso C; Guerrini R
Brain; 2013 Nov; 136(Pt 11):3378-94. PubMed ID: 24056535
[TBL] [Abstract][Full Text] [Related]
3. Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia.
Ferland RJ; Batiz LF; Neal J; Lian G; Bundock E; Lu J; Hsiao YC; Diamond R; Mei D; Banham AH; Brown PJ; Vanderburg CR; Joseph J; Hecht JL; Folkerth R; Guerrini R; Walsh CA; Rodriguez EM; Sheen VL
Hum Mol Genet; 2009 Feb; 18(3):497-516. PubMed ID: 18996916
[TBL] [Abstract][Full Text] [Related]
4. Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.
Parrini E; Mei D; Pisanti MA; Catarzi S; Pucatti D; Bianchini C; Mascalchi M; Bertini E; Morrone A; Cavaliere ML; Guerrini R
J Med Genet; 2015 Jun; 52(6):405-12. PubMed ID: 25755106
[TBL] [Abstract][Full Text] [Related]
5. Filamin A regulates neuronal migration through brefeldin A-inhibited guanine exchange factor 2-dependent Arf1 activation.
Zhang J; Neal J; Lian G; Hu J; Lu J; Sheen V
J Neurosci; 2013 Oct; 33(40):15735-46. PubMed ID: 24089482
[TBL] [Abstract][Full Text] [Related]
6. Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy.
Fallil Z; Pardoe H; Bachman R; Cunningham B; Parulkar I; Shain C; Poduri A; Knowlton R; Kuzniecky R;
Epilepsy Behav; 2015 Oct; 51():321-7. PubMed ID: 26340046
[TBL] [Abstract][Full Text] [Related]
7. The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia.
Lu YT; Hsu CY; Liu YT; Chan CK; Chuang YC; Lin CH; Chang KP; Ho CJ; Ng CC; Lim KS; Tsai MH
Biomed J; 2022 Jun; 45(3):542-548. PubMed ID: 35660364
[TBL] [Abstract][Full Text] [Related]
8. Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.
So J; Stockley T; Stavropoulos DJ
Am J Med Genet A; 2014 Feb; 164A(2):511-5. PubMed ID: 24311471
[TBL] [Abstract][Full Text] [Related]
9. Rcan1 deficiency impairs neuronal migration and causes periventricular heterotopia.
Li Y; Wang J; Zhou Y; Li D; Xiong ZQ
J Neurosci; 2015 Jan; 35(2):610-20. PubMed ID: 25589755
[TBL] [Abstract][Full Text] [Related]
10. Phenotypic manifestations in
Loft Nagel J; Jønch AE; Nguyen NTTN; Bygum A
BMJ Case Rep; 2022 Apr; 15(4):. PubMed ID: 35414575
[TBL] [Abstract][Full Text] [Related]
11. Like father, like son: periventricular nodular heterotopia and nonverbal learning disorder.
McCann MV; Pongonis SJ; Golomb MR; Edwards-Brown M; Christensen CK; Sokol DK
J Child Neurol; 2008 Aug; 23(8):950-3. PubMed ID: 18660478
[TBL] [Abstract][Full Text] [Related]
12. Bilateral periventricular nodular heterotopia with megalencephaly: a case report.
Abe Y; Kobayashi S; Wakusawa K; Tanaka S; Inui T; Yamamoto T; Kunishima S; Haginoya K
J Child Neurol; 2014 Jun; 29(6):818-22. PubMed ID: 23439715
[TBL] [Abstract][Full Text] [Related]
13. Periventricular nodular heterotopia and dystonia due to an ARFGEF2 mutation.
Bardón-Cancho EJ; Muñoz-Jiménez L; Vázquez-López M; Ruíz-Martín Y; García-Morín M; Barredo-Valderrama E
Pediatr Neurol; 2014 Sep; 51(3):461-4. PubMed ID: 25160555
[TBL] [Abstract][Full Text] [Related]
14. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
Parrini E; Ramazzotti A; Dobyns WB; Mei D; Moro F; Veggiotti P; Marini C; Brilstra EH; Dalla Bernardina B; Goodwin L; Bodell A; Jones MC; Nangeroni M; Palmeri S; Said E; Sander JW; Striano P; Takahashi Y; Van Maldergem L; Leonardi G; Wright M; Walsh CA; Guerrini R
Brain; 2006 Jul; 129(Pt 7):1892-906. PubMed ID: 16684786
[TBL] [Abstract][Full Text] [Related]
15. Periventricular nodular heterotopias is associated with mutation at the FLNA locus-a case history and a literature review.
Yang L; Wu G; Yin H; Pan M; Zhu Y
BMC Pediatr; 2023 Jul; 23(1):346. PubMed ID: 37422633
[TBL] [Abstract][Full Text] [Related]
16. Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations.
Liu W; Yan B; An D; Xiao J; Hu F; Zhou D
Epilepsy Res; 2017 Jul; 133():33-40. PubMed ID: 28411558
[TBL] [Abstract][Full Text] [Related]
17. A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia.
Ieda D; Hori I; Nakamura Y; Ohshita H; Negishi Y; Shinohara T; Hattori A; Kato T; Inukai S; Kitamura K; Kawai T; Ohara O; Kunishima S; Saitoh S
Brain Dev; 2018 Jun; 40(6):489-492. PubMed ID: 29449050
[TBL] [Abstract][Full Text] [Related]
18. Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia.
Gerlevik U; Saygı C; Cangül H; Kutlu A; Çaralan EF; Topçu Y; Özören N; Sezerman OU
PLoS One; 2022; 17(5):e0265400. PubMed ID: 35613087
[TBL] [Abstract][Full Text] [Related]
19. Germline mosaicism in X-linked periventricular nodular heterotopia.
LaPointe MM; Spriggs EL; Mhanni AA
BMC Neurol; 2014 Jun; 14():125. PubMed ID: 24906659
[TBL] [Abstract][Full Text] [Related]
20. Platelet function and filamin A expression in two families with novel FLNA gene mutations associated with periventricular nodular heterotopia and panlobular emphysema.
Tanner LM; Kunishima S; Lehtinen E; Helin T; Volmonen K; Lassila R; Pöyhönen M
Am J Med Genet A; 2022 Jun; 188(6):1716-1722. PubMed ID: 35156755
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
