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Items: 1 to 20 of 141

1.

Macrocephaly in association with pontocerebellar hypoplasia type 1: a paradox.

Tamhankar PM, Suvarna JC, Deshmukh CT.

Indian J Med Sci. 2009 Mar;63(3):120-3. No abstract available.

2.

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
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.

Pontocerebellar hypoplasia type 1.

Szabó N, Szabó H, Hortobágyi T, Túri S, Sztriha L.

Pediatr Neurol. 2008 Oct;39(4):286-8. doi: 10.1016/j.pediatrneurol.2008.06.017.

PMID:
18805371
5.

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
6.

Pontocerebellar hypoplasia--how many types?

Barth PG.

Eur J Paediatr Neurol. 2000;4(4):161-2. Review.

PMID:
11008257
7.

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
8.

A syndrome of autosomal recessive pontocerebellar hypoplasia with white matter abnormalities and protracted course in two brothers.

Malandrini A, Palmeri S, Villanova M, Parrotta E, Sicurelli F, Amato D, DeFalco D, Guazzi GC.

Brain Dev. 1997 Apr;19(3):209-11.

PMID:
9134193
9.

Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings.

Steinlin M, Klein A, Haas-Lude K, Zafeiriou D, Strozzi S, Müller T, Gubser-Mercati D, Schmitt Mechelke T, Krägeloh-Mann I, Boltshauser E.

Eur J Paediatr Neurol. 2007 May;11(3):146-52. Epub 2007 Feb 22.

PMID:
17320436
10.

Near-total absence of the cerebellum.

Gardner RJ, Coleman LT, Mitchell LA, Smith LJ, Harvey AS, Scheffer IE, Storey E, Nowotny MJ, Sloane RA, Lubitz L.

Neuropediatrics. 2001 Apr;32(2):62-8.

PMID:
11414645
11.

[Neuroradiological characteristics of pontocerebellar dysplasia or a type of Joubert's syndrome].

Perepelova EM, Demushkina AA, Alikhanov AA.

Vestn Rentgenol Radiol. 2004 Jan-Feb;(1):59-60. Russian. No abstract available.

PMID:
15462059
12.

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
13.

Lissencephaly with pontocerebellar hypoplasia.

al Shawan SA, Bruyn GW, al Deeb SM.

J Child Neurol. 1996 May;11(3):241-4. No abstract available.

PMID:
8734030
14.

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
15.

Hypotonia, weakness, and pontocerebellar hypoplasia in siblings.

Tsao CY, Mendell J, Sahenk Z, Rusin J, Boue D.

Semin Pediatr Neurol. 2008 Dec;15(4):151-3. doi: 10.1016/j.spen.2008.09.001.

PMID:
19073313
16.

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
17.

[Pontocerebellar hypoplasia type I and mitochondrial pathology].

Gómez-Lado C, Eirís-Puñal J, Vázquez-López ME, Castro-Gago M.

Rev Neurol. 2007 Nov 16-30;45(10):639-40. Spanish. No abstract available.

18.

Pontocerebellar hypoplasia type 2: further clinical characterization and evidence of positive response of dyskinesia to levodopa.

Grosso S, Mostadini R, Cioni M, Galluzzi P, Morgese G, Balestri P.

J Neurol. 2002 May;249(5):596-600.

PMID:
12021950
19.

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
20.

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia.

Edvardson S, Shaag A, Kolesnikova O, Gomori JM, Tarassov I, Einbinder T, Saada A, Elpeleg O.

Am J Hum Genet. 2007 Oct;81(4):857-62. Epub 2007 Aug 24.

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