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Items: 1 to 20 of 111

1.

Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion.

Biancheri R, Bruno C, Cassandrini D, Bertini E, Santorelli FM, Rossi A.

J Inherit Metab Dis. 2011 Dec;34(6):1225-7. doi: 10.1007/s10545-011-9376-7. Epub 2011 Aug 9.

PMID:
21826524
2.

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.

Lax NZ, Alston CL, Schon K, Park SM, Krishnakumar D, He L, Falkous G, Ogilvy-Stuart A, Lees C, King RH, Hargreaves IP, Brown GK, McFarland R, Dean AF, Taylor RW.

J Neuropathol Exp Neurol. 2015 Jul;74(7):688-703. doi: 10.1097/NEN.0000000000000209.

3.

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.

Glamuzina E, Brown R, Hogarth K, Saunders D, Russell-Eggitt I, Pitt M, de Sousa C, Rahman S, Brown G, Grunewald S.

J Inherit Metab Dis. 2012 May;35(3):459-67. doi: 10.1007/s10545-011-9413-6. Epub 2011 Nov 16.

PMID:
22086604
4.

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium, Dobyns WB, Baas F, Poll-The BT.

Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15.

PMID:
20952379
5.

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.

Namavar Y, Barth PG, Poll-The BT, Baas F.

Orphanet J Rare Dis. 2011 Jul 12;6:50. doi: 10.1186/1750-1172-6-50. Review.

6.

Neuroradiologic findings in children with mitochondrial disorders.

Valanne L, Ketonen L, Majander A, Suomalainen A, Pihko H.

AJNR Am J Neuroradiol. 1998 Feb;19(2):369-77.

7.

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
8.

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.

Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E.

J Inherit Metab Dis. 2013 Jan;36(1):43-53. doi: 10.1007/s10545-012-9487-9. Epub 2012 May 8.

PMID:
22569581
9.

Neuropathologic features of pontocerebellar hypoplasia type 6.

Joseph JT, Innes AM, Smith AC, Vanstone MR, Schwartzentruber JA, Bulman DE, Majewski J, Daza RA, Hevner RF, Michaud J, Boycott KM; FORGE Canada Consortium.

J Neuropathol Exp Neurol. 2014 Nov;73(11):1009-25. doi: 10.1097/NEN.0000000000000123.

PMID:
25289895
10.

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. doi: 10.1016/j.ejmg.2013.03.009. Epub 2013 Apr 3. Review.

PMID:
23562994
11.

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
12.

Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency.

de Lonlay-Debeney P, von Kleist-Retzow JC, Hertz-Pannier L, Peudenier S, Cormier-Daire V, Berquin P, Chrétien D, Rötig A, Saudubray JM, Baraton J, Brunelle F, Rustin P, Van Der Knaap M, Munnich A.

J Pediatr. 2000 Feb;136(2):209-14.

PMID:
10657827
13.

Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia.

Kasher PR, Namavar Y, van Tijn P, Fluiter K, Sizarov A, Kamermans M, Grierson AJ, Zivkovic D, Baas F.

Hum Mol Genet. 2011 Apr 15;20(8):1574-84. doi: 10.1093/hmg/ddr034. Epub 2011 Jan 27.

PMID:
21273289
14.

Pontocerebellar hypoplasia type 2 and Reye-like syndrome.

Sans-Fitó A, Campistol-Plana J, Mas-Salguero MJ, Póo-Argüelles P, Fernández-Alvarez E.

J Child Neurol. 2002 Feb;17(2):132-4.

PMID:
11952074
15.

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.

Eggens VR, Barth PG, Niermeijer JM, Berg JN, Darin N, Dixit A, Fluss J, Foulds N, Fowler D, Hortobágyi T, Jacques T, King MD, Makrythanasis P, Máté A, Nicoll JA, O'Rourke D, Price S, Williams AN, Wilson L, Suri M, Sztriha L, Dijns-de Wissel MB, van Meegen MT, van Ruissen F, Aronica E, Troost D, Majoie CB, Marquering HA, Poll-Thé BT, Baas F.

Orphanet J Rare Dis. 2014 Feb 13;9:23. doi: 10.1186/1750-1172-9-23.

16.

Primary cerebellar and spino-cerebellar ataxia an MRI study on 63 cases.

Riva A, Bradac GB.

J Neuroradiol. 1995 Jun;22(2):71-6.

PMID:
7629572
17.

Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?

Graham JM Jr, Spencer AH, Grinberg I, Niesen CE, Platt LD, Maya M, Namavar Y, Baas F, Dobyns WB.

Am J Med Genet A. 2010 Sep;152A(9):2268-76. doi: 10.1002/ajmg.a.33579.

18.

Mitochondrial encephalopathy.

Longo N.

Neurol Clin. 2003 Nov;21(4):817-31. Review.

PMID:
14743651
19.

Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum.

Lühl S, Bode H, Schlötzer W, Bartsakoulia M, Horvath R, Abicht A, Stenzel M, Kirschner J, Grünert SC.

Orphanet J Rare Dis. 2016 Oct 21;11(1):140.

20.

Altered cerebral glucose metabolism in a family with clinical features resembling mitochondrial neurogastrointestinal encephalomyopathy syndrome in association with multiple mitochondrial DNA deletions.

Lehnhardt FG, Horvath R, Ullrich R, Kracht L, Sobesky J, Möller-Hartmann W, Jacobs AH, Haupt WF.

Arch Neurol. 2008 Mar;65(3):407-11. doi: 10.1001/archneur.65.3.407.

PMID:
18332256

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