145 related articles for article (PubMed ID: 38129099)
1. Expanding association between BICD2 variants and brain malformations and associated lissencephaly.
Cho J; Kim H; Lee S; Yoon JG; Kim H; Kim M; Jang S; Kim W; Kim SY; Chae JH
Clin Exp Pediatr; 2024 Jan; 67(1):54-56. PubMed ID: 38129099
[No Abstract] [Full Text] [Related]
2. Impairment in dynein-mediated nuclear translocation by BICD2 C-terminal truncation leads to neuronal migration defect and human brain malformation.
Tsai MH; Cheng HY; Nian FS; Liu C; Chao NH; Chiang KL; Chen SF; Tsai JW
Acta Neuropathol Commun; 2020 Jul; 8(1):106. PubMed ID: 32665036
[TBL] [Abstract][Full Text] [Related]
3. Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations.
Accogli A; Severino M; Riva A; Madia F; Balagura G; Iacomino M; Carlini B; Baldassari S; Giacomini T; Croci C; Pisciotta L; Messana T; Boni A; Russo A; Bilo L; Tonziello R; Coppola A; Filla A; Mecarelli O; Casalone R; Pisani F; Falsaperla R; Marino S; Parisi P; Ferretti A; Elia M; Luchetti A; Milani D; Vanadia F; Silvestri L; Rebessi E; Parente E; Vatti G; Mancardi MM; Nobili L; Capra V; Salpietro V; Striano P; Zara F
Seizure; 2020 Aug; 80():145-152. PubMed ID: 32570172
[TBL] [Abstract][Full Text] [Related]
4. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
Mitani T; Punetha J; Akalin I; Pehlivan D; Dawidziuk M; Coban Akdemir Z; Yilmaz S; Aslan E; Hunter JV; Hijazi H; Grochowski CM; Jhangiani SN; Karaca E; Fatih JM; Iwanowski P; Gambin T; Wlasienko P; Goszczanska-Ciuchta A; Bekiesinska-Figatowska M; Hosseini M; Arzhangi S; Najmabadi H; Rosenfeld JA; Du H; Marafi D; Blaser S; Teitelbaum R; Silver R; ; Posey JE; Ropers HH; Gibbs RA; Wiszniewski W; Lupski JR; Chitayat D; Kahrizi K; Gawlinski P
Am J Hum Genet; 2019 Nov; 105(5):1005-1015. PubMed ID: 31630790
[TBL] [Abstract][Full Text] [Related]
5. An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis.
Shahsavani M; Pronk RJ; Falk R; Lam M; Moslem M; Linker SB; Salma J; Day K; Schuster J; Anderlid BM; Dahl N; Gage FH; Falk A
Mol Psychiatry; 2018 Jul; 23(7):1674-1684. PubMed ID: 28924182
[TBL] [Abstract][Full Text] [Related]
6. [Genetic and clinical aspects of lissencephaly].
Verloes A; Elmaleh M; Gonzales M; Laquerrière A; Gressens P
Rev Neurol (Paris); 2007 May; 163(5):533-47. PubMed ID: 17571022
[TBL] [Abstract][Full Text] [Related]
7. The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
Koboldt DC; Waldrop MA; Wilson RK; Flanigan KM
Ann Neurol; 2020 Apr; 87(4):487-496. PubMed ID: 32057122
[TBL] [Abstract][Full Text] [Related]
8. Novel lissencephaly-associated DCX variants in the C-terminal DCX domain affect microtubule binding and dynamics.
Lin JR; Cheng JF; Liu YT; Hsu TR; Lin KM; Chen C; Lin CL; Tsai MH; Tsai JW
Epilepsia; 2022 May; 63(5):1253-1265. PubMed ID: 35213059
[TBL] [Abstract][Full Text] [Related]
9. Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.
Unger A; Dekomien G; Güttsches A; Dreps T; Kley R; Tegenthoff M; Ferbert A; Weis J; Heyer C; Linke WA; Martinez-Carrera L; Storbeck M; Wirth B; Hoffjan S; Vorgerd M
Neurology; 2016 Nov; 87(21):2235-2243. PubMed ID: 27784775
[TBL] [Abstract][Full Text] [Related]
10. Lissencephalic syndromes: brain and beyond.
Pavone L; Corsello G; Pavone P; Iannetti P
Front Biosci (Schol Ed); 2010 Jan; 2(1):85-95. PubMed ID: 20036930
[TBL] [Abstract][Full Text] [Related]
11. Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.
Neveling K; Martinez-Carrera LA; Hölker I; Heister A; Verrips A; Hosseini-Barkooie SM; Gilissen C; Vermeer S; Pennings M; Meijer R; te Riele M; Frijns CJ; Suchowersky O; MacLaren L; Rudnik-Schöneborn S; Sinke RJ; Zerres K; Lowry RB; Lemmink HH; Garbes L; Veltman JA; Schelhaas HJ; Scheffer H; Wirth B
Am J Hum Genet; 2013 Jun; 92(6):946-54. PubMed ID: 23664116
[TBL] [Abstract][Full Text] [Related]
12. Microscopic and Biochemical Hallmarks of
Unger A; Roos A; Gangfuß A; Hentschel A; Gläser D; Krause K; Doering K; Schara-Schmidt U; Hoffjan S; Vorgerd M; Güttsches AK
Int J Mol Sci; 2023 Apr; 24(7):. PubMed ID: 37047781
[No Abstract] [Full Text] [Related]
13. Dynein activating adaptor BICD2 controls radial migration of upper-layer cortical neurons in vivo.
Will L; Portegies S; van Schelt J; van Luyk M; Jaarsma D; Hoogenraad CC
Acta Neuropathol Commun; 2019 Oct; 7(1):162. PubMed ID: 31655624
[TBL] [Abstract][Full Text] [Related]
14. The Names of Things: The 2018 Bernard Sachs Lecture.
Dobyns WB
Pediatr Neurol; 2021 Sep; 122():41-49. PubMed ID: 34330614
[TBL] [Abstract][Full Text] [Related]
15. Prenatal Diagnosis of Lissencephaly Associated with Biallelic Pathologic Variants in the COQ2 Gene.
Rosado Santos R; Rodrigues M; Loureiro T
Acta Med Port; 2023 Jun; 36(6):428-431. PubMed ID: 36168972
[TBL] [Abstract][Full Text] [Related]
16. Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy.
Rossor AM; Sleigh JN; Groves M; Muntoni F; Reilly MM; Hoogenraad CC; Schiavo G
Acta Neuropathol Commun; 2020 Mar; 8(1):34. PubMed ID: 32183910
[TBL] [Abstract][Full Text] [Related]
17. Identification and functional characterization of BICD2 as a candidate disease gene in an consanguineous family with dilated cardiomyopathy.
Luo K; Zheng C; Luo R; Cao X; Sun H; Ma H; Huang J; Yang X; Wu X; Li X
BMC Med Genomics; 2022 Sep; 15(1):189. PubMed ID: 36068540
[TBL] [Abstract][Full Text] [Related]
18. Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.
Ravenscroft G; Di Donato N; Hahn G; Davis MR; Craven PD; Poke G; Neas KR; Neuhann TM; Dobyns WB; Laing NG
Neuromuscul Disord; 2016 Nov; 26(11):744-748. PubMed ID: 27751653
[TBL] [Abstract][Full Text] [Related]
19. Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
Storbeck M; Horsberg Eriksen B; Unger A; Hölker I; Aukrust I; Martínez-Carrera LA; Linke WA; Ferbert A; Heller R; Vorgerd M; Houge G; Wirth B
Eur J Hum Genet; 2017 Sep; 25(9):1040-1048. PubMed ID: 28635954
[TBL] [Abstract][Full Text] [Related]
20. Likely pathogenic variant in the BICD2 gene in fetus presenting with non-immune hydrops.
Chandler N; Brace P; Roberts R; Mellis R
Prenat Diagn; 2023 Jun; 43(6):727-729. PubMed ID: 37173812
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]