These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
170 related articles for article (PubMed ID: 10814903)
21. 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]
22. A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. Rajab A; Mochida GH; Hill A; Ganesh V; Bodell A; Riaz A; Grant PE; Shugart YY; Walsh CA Neurology; 2003 May; 60(10):1664-7. PubMed ID: 12771259 [TBL] [Abstract][Full Text] [Related]
23. Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. Cassandrini D; Biancheri R; Tessa A; Di Rocco M; Di Capua M; Bruno C; Denora PS; Sartori S; Rossi A; Nozza P; Emma F; Mezzano P; Politi MR; Laverda AM; Zara F; Pavone L; Simonati A; Leuzzi V; Santorelli FM; Bertini E Neurology; 2010 Oct; 75(16):1459-64. PubMed ID: 20956791 [TBL] [Abstract][Full Text] [Related]
24. 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]
25. Pontocerebellar hypoplasia type 1. Szabó N; Szabó H; Hortobágyi T; Túri S; Sztriha L Pediatr Neurol; 2008 Oct; 39(4):286-8. PubMed ID: 18805371 [TBL] [Abstract][Full Text] [Related]
32. Autopsy case of later-onset pontocerebellar hypoplasia type 1: pontine atrophy and pyramidal tract involvement. Sanefuji M; Kira R; Matsumoto K; Gondo K; Torisu H; Kawakami H; Iwaki T; Hara T J Child Neurol; 2010 Nov; 25(11):1429-34. PubMed ID: 20558670 [TBL] [Abstract][Full Text] [Related]
33. [Neuroradiological characteristics of pontocerebellar dysplasia or a type of Joubert's syndrome]. Perepelova EM; Demushkina AA; Alikhanov AA Vestn Rentgenol Radiol; 2004; (1):59-60. PubMed ID: 15462059 [No Abstract] [Full Text] [Related]
34. 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]
35. Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations. Bierhals T; Korenke GC; Uyanik G; Kutsche K Eur J Med Genet; 2013 Jun; 56(6):325-30. PubMed ID: 23562994 [TBL] [Abstract][Full Text] [Related]
36. 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]
37. Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis. Salman MS; Blaser S; Buncic JR; Westall CA; Héon E; Becker L J Child Neurol; 2003 Mar; 18(3):220-5. PubMed ID: 12731647 [TBL] [Abstract][Full Text] [Related]
38. Early fatal pontocerebellar hypoplasia with simplified cerebral gyration and pseudolissencephaly. A neuroradiological pitfall. Hoffmann A; Weber P; Fallet-Bianco C; Radu EW; Probst A Fetal Diagn Ther; 2006; 21(2):161-7. PubMed ID: 16490996 [TBL] [Abstract][Full Text] [Related]