Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 480

1.

A mild variant of pontocerebellar hypoplasia type 1 in a 12-year-old Indian boy.

Kalpana D, Parvathy L, Ahamed SM, Iype M, Kunju MP.

Pediatr Neurol. 2009 Apr;40(4):302-5. doi: 10.1016/j.pediatrneurol.2008.11.009.

PMID:
19302945
2.

Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1?

Lev D, Michelson-Kerman M, Vinkler C, Blumkin L, Shalev SA, Lerman-Sagie T.

Eur J Paediatr Neurol. 2008 Mar;12(2):97-101.

PMID:
17681808
3.

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.

PMID:
12731647
4.

[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.

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 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
7.

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.

PMID:
20558670
8.

Anterior horn cell disease and olivopontocerebellar hypoplasia.

Ryan MM, Cooke-Yarborough CM, Procopis PG, Ouvrier RA.

Pediatr Neurol. 2000 Aug;23(2):180-4.

PMID:
11020648
9.

Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings.

Durmaz B, Wollnik B, Cogulu O, Li Y, Tekgul H, Hazan F, Ozkinay F.

J Neurol. 2009 Mar;256(3):416-9. doi: 10.1007/s00415-009-0094-0.

PMID:
19277761
10.
11.

Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4.

Rudaks LI, Moore L, Shand KL, Wilkinson C, Barnett CP.

Pediatr Neurol. 2011 Sep;45(3):185-8. doi: 10.1016/j.pediatrneurol.2011.05.009.

PMID:
21824568
12.

Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration: a late onset variant of PCH-1?

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

Eur J Paediatr Neurol. 2009 Sep;13(5):473; author reply 474. doi: 10.1016/j.ejpn.2008.08.008. No abstract available.

PMID:
18929497
13.

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.

PMID:
17320436
14.

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
15.

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.

PMID:
21880448
16.

Amyotrophic cerebellar hypoplasia: a specific form of infantile spinal atrophy.

de León GA, Grover WD, D'Cruz CA.

Acta Neuropathol. 1984;63(4):282-6.

PMID:
6475488
17.

Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy.

Rudnik-Schöneborn S, Sztriha L, Aithala GR, Houge G, Laegreid LM, Seeger J, Huppke M, Wirth B, Zerres K.

Am J Med Genet A. 2003 Feb 15;117A(1):10-7.

PMID:
12548734
18.

Early-onset neurodegenerative disease of the cerebellum and motor axons.

Salman MS, Marles SL, Booth FA, Del Bigio MR.

Pediatr Neurol. 2009 May;40(5):365-70. doi: 10.1016/j.pediatrneurol.2008.11.020.

PMID:
19380073
19.

[Some problems on the clinical phenotype of Machado-Joseph disease in relation between their ages at onset].

Iwabuchi K, Kogure T, Oda T, Kato Y, Ohtani K, Endo K, Kosaka K, Amano N, Yagishita S.

No To Shinkei. 1993 Mar;45(3):246-54. Japanese.

PMID:
8323819
20.

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
Items per page

Supplemental Content

Support Center