383 related articles for article (PubMed ID: 28823707)
1. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
Ivanova EL; Mau-Them FT; Riazuddin S; Kahrizi K; Laugel V; Schaefer E; de Saint Martin A; Runge K; Iqbal Z; Spitz MA; Laura M; Drouot N; Gérard B; Deleuze JF; de Brouwer APM; Razzaq A; Dollfus H; Assir MZ; Nitchké P; Hinckelmann MV; Ropers H; Riazuddin S; Najmabadi H; van Bokhoven H; Chelly J
Am J Hum Genet; 2017 Sep; 101(3):428-440. PubMed ID: 28823707
[TBL] [Abstract][Full Text] [Related]
2. Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Marin-Valencia I; Gerondopoulos A; Zaki MS; Ben-Omran T; Almureikhi M; Demir E; Guemez-Gamboa A; Gregor A; Issa MY; Appelhof B; Roosing S; Musaev D; Rosti B; Wirth S; Stanley V; Baas F; Barr FA; Gleeson JG
Am J Hum Genet; 2017 Sep; 101(3):441-450. PubMed ID: 28823706
[TBL] [Abstract][Full Text] [Related]
3. Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?
Laugwitz L; Buchert R; Groeschel S; Riess A; Grimmel M; Beck-Wödl S; Sturm M; Gohla G; Döbler-Neumann M; Krägeloh-Mann I; Haack TB
Eur J Med Genet; 2020 Jul; 63(7):103938. PubMed ID: 32360255
[TBL] [Abstract][Full Text] [Related]
4. The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor protein-dependent mechanism.
Vinograd-Byk H; Sapir T; Cantarero L; Lazo PA; Zeligson S; Lev D; Lerman-Sagie T; Renbaum P; Reiner O; Levy-Lahad E
J Neurosci; 2015 Jan; 35(3):936-42. PubMed ID: 25609612
[TBL] [Abstract][Full Text] [Related]
5. Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.
Moortgat S; Lederer D; Deprez M; Buzatu M; Clapuyt P; Boulanger S; Benoit V; Mary S; Guichet A; Ziegler A; Colin E; Bonneau D; Maystadt I
Eur J Med Genet; 2018 Aug; 61(8):442-450. PubMed ID: 29510240
[TBL] [Abstract][Full Text] [Related]
6. Structural and functional studies of TBC1D23 C-terminal domain provide a link between endosomal trafficking and PCH.
Huang W; Liu Z; Yang F; Zhou H; Yong X; Yang X; Zhou Y; Xue L; Zhang Y; Liu D; Meng W; Zhang W; Zhang X; Shen X; Sun Q; Li L; Ma C; Wei Y; Billadeau DD; Mo X; Jia D
Proc Natl Acad Sci U S A; 2019 Nov; 116(45):22598-22608. PubMed ID: 31624125
[TBL] [Abstract][Full Text] [Related]
7. RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.
Valence S; Garel C; Barth M; Toutain A; Paris C; Amsallem D; Barthez MA; Mayer M; Rodriguez D; Burglen L
Clin Genet; 2016 Dec; 90(6):545-549. PubMed ID: 27000652
[TBL] [Abstract][Full Text] [Related]
8. Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.
Kortüm F; Jamra RA; Alawi M; Berry SA; Borck G; Helbig KL; Tang S; Huhle D; Korenke GC; Hebbar M; Shukla A; Girisha KM; Steinlin M; Waldmeier-Wilhelm S; Montomoli M; Guerrini R; Lemke JR; Kutsche K
Eur J Hum Genet; 2018 May; 26(5):695-708. PubMed ID: 29463858
[TBL] [Abstract][Full Text] [Related]
9. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A
Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
[TBL] [Abstract][Full Text] [Related]
10. Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
Breuss MW; Sultan T; James KN; Rosti RO; Scott E; Musaev D; Furia B; Reis A; Sticht H; Al-Owain M; Alkuraya FS; Reuter MS; Abou Jamra R; Trotta CR; Gleeson JG
Am J Hum Genet; 2016 Jul; 99(1):228-35. PubMed ID: 27392077
[TBL] [Abstract][Full Text] [Related]
11. Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population.
Rabin R; Hirsch Y; Johansson MM; Ekstein J; Ekstein A; Pappas J
Am J Med Genet A; 2021 May; 185(5):1589-1597. PubMed ID: 33682303
[TBL] [Abstract][Full Text] [Related]
12. Novel unconventional variants expand the allelic spectrum of OPHN1 gene.
Nuovo S; Brankovic V; Caputi C; Casella A; Nigro V; Leuzzi V; Valente EM
Am J Med Genet A; 2021 May; 185(5):1575-1581. PubMed ID: 33638601
[TBL] [Abstract][Full Text] [Related]
13. TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family.
Maraş-Genç H; Uyur-Yalçın E; Rosti RÖ; Gleeson JG; Kara B
Turk J Pediatr; 2015; 57(3):286-9. PubMed ID: 26701950
[TBL] [Abstract][Full Text] [Related]
14. Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia.
Gilboa T; Elefant N; Meiner V; Hacohen N
Neurogenetics; 2023 Jan; 24(1):61-66. PubMed ID: 36445597
[TBL] [Abstract][Full Text] [Related]
15. MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia.
Rodríguez-García ME; Cotrina-Vinagre FJ; Gómez-Cano MLÁ; Martínez de Aragón A; Martín-Hernández E; Martínez-Azorín F
Am J Med Genet A; 2020 Jun; 182(6):1483-1490. PubMed ID: 32198973
[TBL] [Abstract][Full Text] [Related]
16. The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees.
Barth PG; Blennow G; Lenard HG; Begeer JH; van der Kley JM; Hanefeld F; Peters AC; Valk J
Neurology; 1995 Feb; 45(2):311-7. PubMed ID: 7854532
[TBL] [Abstract][Full Text] [Related]
17. FAM91A1-TBC1D23 complex structure reveals human genetic variations susceptible for PCH.
Zhao L; Deng H; Yang Q; Tang Y; Zhao J; Li P; Zhang S; Yong X; Li T; Billadeau DD; Jia D
Proc Natl Acad Sci U S A; 2023 Nov; 120(45):e2309910120. PubMed ID: 37903274
[TBL] [Abstract][Full Text] [Related]
18. Expanding the spectrum of CEP55-associated disease to viable phenotypes.
Barrie ES; Overwater E; van Haelst MM; Motazacker MM; Truxal KV; Crist E; Mostafavi R; Pivnick EK; Choudhri AF; Narumanchi T; Castelluccio V; Walsh LE; Garganta C; Gastier-Foster JM
Am J Med Genet A; 2020 May; 182(5):1201-1208. PubMed ID: 32100459
[TBL] [Abstract][Full Text] [Related]
19. Classic "PCH" Genes are a Rare Cause of Radiologic Pontocerebellar Hypoplasia.
Zakaria RBM; Malta M; Pelletier F; Addour-Boudrahem N; Pinchefsky E; Martin CS; Srour M
Cerebellum; 2024 Apr; 23(2):418-430. PubMed ID: 36971923
[TBL] [Abstract][Full Text] [Related]
20. Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
Hayashi S; Uehara DT; Tanimoto K; Mizuno S; Chinen Y; Fukumura S; Takanashi JI; Osaka H; Okamoto N; Inazawa J
PLoS One; 2017; 12(8):e0181791. PubMed ID: 28783747
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
