181 related articles for article (PubMed ID: 36971923)
1. 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]
2. 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]
3. 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]
4. Developmental outcomes in children with congenital cerebellar malformations.
Pinchefsky EF; Accogli A; Shevell MI; Saint-Martin C; Srour M
Dev Med Child Neurol; 2019 Mar; 61(3):350-358. PubMed ID: 30320441
[TBL] [Abstract][Full Text] [Related]
5. MR findings in pontocerebellar hypoplasia.
Uhl M; Pawlik H; Laubenberger J; Darge K; Baborie A; Korinthenberg R; Langer M
Pediatr Radiol; 1998 Jul; 28(7):547-51. PubMed ID: 9662582
[TBL] [Abstract][Full Text] [Related]
6. Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience.
Bilge S; Mert GG; Hergüner Ö; Özcanyüz D; Bozdoğan ST; Kaya Ö; Havalı C
Ital J Pediatr; 2022 Sep; 48(1):169. PubMed ID: 36076253
[TBL] [Abstract][Full Text] [Related]
7. What's new in pontocerebellar hypoplasia? An update on genes and subtypes.
van Dijk T; Baas F; Barth PG; Poll-The BT
Orphanet J Rare Dis; 2018 Jun; 13(1):92. PubMed ID: 29903031
[TBL] [Abstract][Full Text] [Related]
8. Pontocerebellar hypoplasia type 3 with tetralogy of Fallot.
Jinnou H; Okanishi T; Enoki H; Ohki S
Brain Dev; 2012 May; 34(5):392-5. PubMed ID: 21880448
[TBL] [Abstract][Full Text] [Related]
9. Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset.
Barth PG
Brain Dev; 1993; 15(6):411-22. PubMed ID: 8147499
[TBL] [Abstract][Full Text] [Related]
10. Diagnostic Approach to Cerebellar Hypoplasia.
Accogli A; Addour-Boudrahem N; Srour M
Cerebellum; 2021 Aug; 20(4):631-658. PubMed ID: 33534089
[TBL] [Abstract][Full Text] [Related]
11. Pontocerebellar Hypoplasia 7 with Novel Compound Heterozygous Variants of
Jo YH; Shin KH; Kim H; Lee BL; Chung WY; Lee YJ; Jo HY; Kim YM
Ann Clin Lab Sci; 2023 Sep; 53(5):806-810. PubMed ID: 37945020
[TBL] [Abstract][Full Text] [Related]
12. Pontocerebellar Hypoplasia: a Pattern Recognition Approach.
Rüsch CT; Bölsterli BK; Kottke R; Steinfeld R; Boltshauser E
Cerebellum; 2020 Aug; 19(4):569-582. PubMed ID: 32410094
[TBL] [Abstract][Full Text] [Related]
13. Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia.
van Dijk T; Barth P; Baas F; Reneman L; Poll-The BT
Neuropediatrics; 2021 Jun; 52(3):163-169. PubMed ID: 33111306
[TBL] [Abstract][Full Text] [Related]
14. Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.
Ghasemi MR; Tehrani Fateh S; Moeinafshar A; Sadeghi H; Karimzadeh P; Mirfakhraie R; Rezaei M; Hashemi-Gorji F; Rezvani Kashani M; Fazeli Bavandpour F; Bagheri S; Moghimi P; Rostami M; Madannejad R; Roudgari H; Miryounesi M
BMC Med Genomics; 2024 Feb; 17(1):51. PubMed ID: 38347586
[TBL] [Abstract][Full Text] [Related]
15. Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review.
Bolduc ME; Limperopoulos C
Dev Med Child Neurol; 2009 Apr; 51(4):256-67. PubMed ID: 19191827
[TBL] [Abstract][Full Text] [Related]
16. Clinico-radiological Profile of Children with Pontocerebellar Hypoplasia.
Kasinathan A; Sankhyan N; Dijk TV; Singh P; Singhi P
J Pediatr Neurosci; 2020; 15(2):94-98. PubMed ID: 33042238
[TBL] [Abstract][Full Text] [Related]
17. EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
Biancheri R; Cassandrini D; Pinto F; Trovato R; Di Rocco M; Mirabelli-Badenier M; Pedemonte M; Panicucci C; Trucks H; Sander T; Zara F; Rossi A; Striano P; Minetti C; Santorelli FM
J Neurol; 2013 Jul; 260(7):1866-70. PubMed ID: 23564332
[TBL] [Abstract][Full Text] [Related]
18. TSEN54 Gene-Related Pontocerebellar-Hypoplasia and Role of Prenatal MR Imaging: Besides the Common Posterior Fossa Cystic Malformations.
Tortora M; Spaccini L; Lanna M; Zambon M; Izzo G; Parazzini C; Righini A
Cerebellum; 2023 Oct; 22(5):1023-1025. PubMed ID: 35962274
[TBL] [Abstract][Full Text] [Related]
19. Fetal Pontine Tegmental Cap Dysplasia- A Case Report.
Priyanka C; Rangasami R; Suresh I
Neurol India; 2022; 70(4):1652-1654. PubMed ID: 36076676
[TBL] [Abstract][Full Text] [Related]
20. Two cases of pontocerebellar hypoplasia: ethical and prenatal diagnostic dilemma.
Ajibola AJ; Netzloff M; Samaraweera R; Omar SA
Am J Perinatol; 2010 Feb; 27(2):181-7. PubMed ID: 19644791
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
