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Items: 1 to 20 of 170

1.

Pontocerebellar hypoplasia type 3 with tetralogy of Fallot.

Jinnou H, Okanishi T, Enoki H, Ohki S.

Brain Dev. 2012 May;34(5):392-5. doi: 10.1016/j.braindev.2011.07.011. Epub 2011 Aug 30.

PMID:
21880448
2.

Delayed gyration with pontocerebellar hypoplasia type 1.

Okanishi T, Mori Y, Shirai K, Kobayashi S, Nakashima H, Kibe T, Yokochi K, Togari H, Nonaka I.

Brain Dev. 2010 Mar;32(3):258-62. doi: 10.1016/j.braindev.2009.01.006. Epub 2009 Feb 24.

PMID:
19243903
3.

Pontocerebellar hypoplasia type 2 (PCH2): report of two siblings.

Coppola G, Muras I, Pascotto A.

Brain Dev. 2000 May;22(3):188-92.

PMID:
10814903
4.

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.

PMID:
7854532
5.

Familial pontocerebellar hypoplasia type I with anterior horn cell disease.

Görgen-Pauly U, Sperner J, Reiss I, Gehl HB, Reusche E.

Eur J Paediatr Neurol. 1999;3(1):33-8.

PMID:
10727190
6.

Pontocerebellar hypoplasia type 2: a neuropathological update.

Barth PG, Aronica E, de Vries L, Nikkels PG, Scheper W, Hoozemans JJ, Poll-The BT, Troost D.

Acta Neuropathol. 2007 Oct;114(4):373-86. Epub 2007 Jul 20.

7.

[Pontocerebellar hypoplasia type 1: a case report].

Gómez-Lado C, Landín-Iglesias G, Pintos-Martínez E, Pastor-Benavent N, Eirís-Puñal J, Castro-Gago M.

Rev Neurol. 2007 Mar 1-15;44(5):281-4. Spanish.

8.

Pontocerebellar hypoplasia associated with respiratory-chain defects.

de Koning TJ, de Vries LS, Groenendaal F, Ruitenbeek W, Jansen GH, Poll-The BT, Barth PG.

Neuropediatrics. 1999 Apr;30(2):93-5.

PMID:
10401692
9.

Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.

Zelnik N, Dobyns WB, Forem SL, Kolodny EH.

Neuroradiology. 1996 Oct;38(7):684-7.

PMID:
8912329
10.
11.

Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.

Kastrissianakis K, Anand G, Quaghebeur G, Price S, Prabhakar P, Marinova J, Brown G, McShane T.

Arch Dis Child. 2013 Dec;98(12):1004-7. doi: 10.1136/archdischild-2013-304308. Epub 2013 Sep 18.

PMID:
24047924
12.

Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2).

Barth PG, Ryan MM, Webster RI, Aronica E, Kan A, Ramkema M, Jardine P, Poll-The BT.

Neuromuscul Disord. 2008 Jan;18(1):52-8. Epub 2007 Sep 6.

PMID:
17825555
13.

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.

PMID:
9662582
14.

Pontocerebellar hypoplasia in extreme prematurity: clinical and neuroimaging findings.

Zafeiriou DI, Ververi A, Anastasiou A, Soubasi V, Vargiami E.

Pediatr Neurol. 2013 Jan;48(1):48-51. doi: 10.1016/j.pediatrneurol.2012.09.003.

PMID:
23290020
15.

Congenital olivopontocerebellar atrophy: report of two siblings with paleo- and neocerebellar atrophy.

Park SH, Becker-Catania S, Gatti RA, Crandall BF, Emelin JK, Vinters HV.

Acta Neuropathol. 1998 Oct;96(4):315-21.

PMID:
9796994
16.

Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2.

Zafeiriou DI, Ververi A, Tsitlakidou A, Anastasiou A, Vargiami E.

Neuromuscul Disord. 2013 Feb;23(2):116-9. doi: 10.1016/j.nmd.2012.08.004. Epub 2012 Nov 22.

PMID:
23177318
17.

Early fatal pontocerebellar hypoplasia in premature twin sisters.

Chaves-Vischer V, Pizzolato GP, Hanquinet S, Maret A, Bottani A, Haenggeli CA.

Eur J Paediatr Neurol. 2000;4(4):171-6.

PMID:
11008260
18.

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. doi: 10.1177/0883073810372991. Epub 2010 Jun 17.

PMID:
20558670
19.

Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1.

Muntoni F, Goodwin F, Sewry C, Cox P, Cowan F, Airaksinen E, Patel S, Ignatius J, Dubowitz V.

Neuropediatrics. 1999 Oct;30(5):243-8.

PMID:
10598835
20.

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 27;60(10):1664-7.

PMID:
12771259

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