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Results: 1 to 20 of 70

1.

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
[PubMed - indexed for MEDLINE]
2.

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

Zanni G, Scotton C, Passarelli C, Fang M, Barresi S, Dallapiccola B, Wu B, Gualandi F, Ferlini A, Bertini E, Wei W.

Neurogenetics. 2013 Nov;14(3-4):247-50. doi: 10.1007/s10048-013-0371-z. Epub 2013 Aug 24.

PMID:
23975261
[PubMed - indexed for MEDLINE]
3.

AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.

Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, Naviaux RK, Van Vleet J, Fenstermaker AG, Silhavy JL, Scheliga JS, Toyama K, Morisaki H, Sonmez FM, Celep F, Oraby A, Zaki MS, Al-Baradie R, Faqeih EA, Saleh MA, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, Morisaki T, Holmes EW, Gleeson JG.

Cell. 2013 Aug 1;154(3):505-17. doi: 10.1016/j.cell.2013.07.005.

PMID:
23911318
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome.

Siriwardena K, Al-Maawali A, Guerin A, Blaser S, Chitayat D.

Am J Med Genet A. 2013 Jul;161A(7):1714-7. doi: 10.1002/ajmg.a.35945. Epub 2013 May 17.

PMID:
23686794
[PubMed - indexed for MEDLINE]
5.

Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration.

Wolf NI, Koenig M.

Handb Clin Neurol. 2013;113:1869-78. doi: 10.1016/B978-0-444-59565-2.00057-5. Review.

PMID:
23622410
[PubMed - indexed for MEDLINE]
6.

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.

Biancheri R, Cassandrini D, Pinto F, Trovato R, Di Rocco M, Mirabelli-Badenier M, Pedemonte M, Panicucci C, Trucks H, Sander T, Zara F, Rossi A, Striano P, Minetti C, Santorelli FM.

J Neurol. 2013 Jul;260(7):1866-70. doi: 10.1007/s00415-013-6896-0. Epub 2013 Apr 7.

PMID:
23564332
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.

Molero-Luis M, Serrano M, Ormazábal A, Pérez-Dueñas B, García-Cazorla A, Pons R, Artuch R; Neurotransmitter Working Group.

Dev Med Child Neurol. 2013 Jun;55(6):559-66. doi: 10.1111/dmcn.12116. Epub 2013 Mar 11.

PMID:
23480488
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.

Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, Colomer J, Hübner C, Brockmann K, Van Maldergem L, Schiff M, Holzinger A, Barth P, Reardon W, Yourshaw M, Nelson SF, Eggermann T, Zerres K.

Neurology. 2013 Jan 29;80(5):438-46. doi: 10.1212/WNL.0b013e31827f0f66. Epub 2013 Jan 2.

PMID:
23284067
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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
[PubMed - indexed for MEDLINE]
12.

Affective disorder associated with pontocerebellar hypoplasia.

Loy KY, Usman M, Lee HE, Brock P.

Australas Psychiatry. 2012 Oct;20(5):444. doi: 10.1177/1039856212447663. No abstract available.

PMID:
23086315
[PubMed - indexed for MEDLINE]
13.

Pontocerebellar hypoplasia associated with nevoid hyperpigmentation and dysmorphic findings: a new subtype?

Sonmez FM, Yayli S, Kul S, Celep F, Ozkaya AK, Ersoz S, Erpolat S.

Genet Couns. 2012;23(3):347-52.

PMID:
23072181
[PubMed - indexed for MEDLINE]
14.

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.

Mochida GH, Ganesh VS, de Michelena MI, Dias H, Atabay KD, Kathrein KL, Huang HT, Hill RS, Felie JM, Rakiec D, Gleason D, Hill AD, Malik AN, Barry BJ, Partlow JN, Tan WH, Glader LJ, Barkovich AJ, Dobyns WB, Zon LI, Walsh CA.

Nat Genet. 2012 Nov;44(11):1260-4. doi: 10.1038/ng.2425. Epub 2012 Sep 30.

PMID:
23023333
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Epilepsy in inherited metabolic disorders: a pediatric series.

Vitiello G, De Clemente V, Della Casa R, Romano A, Rosa M, Pascarella A, Riccitelli M, Parenti G, Del Giudice E.

Minerva Pediatr. 2012 Oct;64(5):513-20.

PMID:
22992533
[PubMed - indexed for MEDLINE]
16.

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.

Saitsu H, Kato M, Osaka H, Moriyama N, Horita H, Nishiyama K, Yoneda Y, Kondo Y, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N.

Epilepsia. 2012 Aug;53(8):1441-9. doi: 10.1111/j.1528-1167.2012.03548.x. Epub 2012 Jun 18.

PMID:
22709267
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.

Wan J, Yourshaw M, Mamsa H, Rudnik-Schöneborn S, Menezes MP, Hong JE, Leong DW, Senderek J, Salman MS, Chitayat D, Seeman P, von Moers A, Graul-Neumann L, Kornberg AJ, Castro-Gago M, Sobrido MJ, Sanefuji M, Shieh PB, Salamon N, Kim RC, Vinters HV, Chen Z, Zerres K, Ryan MM, Nelson SF, Jen JC.

Nat Genet. 2012 Apr 29;44(6):704-8. doi: 10.1038/ng.2254.

PMID:
22544365
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients.

Sonmez FM, Gleeson JG, Celep F, Kul S.

J Child Neurol. 2013 Mar;28(3):379-83. doi: 10.1177/0883073812441065. Epub 2012 Apr 24.

PMID:
22532556
[PubMed - indexed for MEDLINE]
20.

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.

Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D.

Orphanet J Rare Dis. 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18.

PMID:
22452838
[PubMed - indexed for MEDLINE]
Free PMC Article

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