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Results: 1 to 20 of 134

Similar articles for PubMed (Select 24091540)

1.

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.

Ohba C, Osaka H, Iai M, Yamashita S, Suzuki Y, Aida N, Shimozawa N, Takamura A, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Eto Y, Tanaka F, Matsumoto N, Saitsu H.

Neurogenetics. 2013 Nov;14(3-4):225-32. doi: 10.1007/s10048-013-0375-8. Epub 2013 Oct 4.

PMID:
24091540
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
3.

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

Hamilton EM, Polder E, Vanderver A, Naidu S, Schiffmann R, Fisher K, Raguž AB, Blumkin L; H-ABC Research Group, van Berkel CG, Waisfisz Q, Simons C, Taft RJ, Abbink TE, Wolf NI, van der Knaap MS.

Brain. 2014 Jul;137(Pt 7):1921-30. doi: 10.1093/brain/awu110. Epub 2014 Apr 30.

4.

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

Rosewich H, Thiele H, Ohlenbusch A, Maschke U, Altmüller J, Frommolt P, Zirn B, Ebinger F, Siemes H, Nürnberg P, Brockmann K, Gärtner J.

Lancet Neurol. 2012 Sep;11(9):764-73. doi: 10.1016/S1474-4422(12)70182-5. Epub 2012 Jul 30.

5.

Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report.

Shimojima K, Narita A, Maegaki Y, Saito A, Furukawa T, Yamamoto T.

BMC Res Notes. 2014 Jul 22;7:465. doi: 10.1186/1756-0500-7-465.

6.

Genetic disorders and cerebellar structural abnormalities in childhood.

Ramaekers VT, Heimann G, Reul J, Thron A, Jaeken J.

Brain. 1997 Oct;120 ( Pt 10):1739-51. Review.

7.

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.

Baasch AL, Hüning I, Gilissen C, Klepper J, Veltman JA, Gillessen-Kaesbach G, Hoischen A, Lohmann K.

Epilepsia. 2014 Apr;55(4):e25-9. doi: 10.1111/epi.12554. Epub 2014 Mar 1. Review.

PMID:
24579881
8.

Classification of cerebellar atrophy using voxel-based morphometry and SPECT with an easy Z-score imaging system.

Nanri K, Koizumi K, Mitoma H, Taguchi T, Takeguchi M, Ishiko T, Otsuka T, Nishioka H, Mizusawa H.

Intern Med. 2010;49(6):535-41. Epub 2010 Mar 15.

9.

Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI.

Tavani F, Zimmerman RA, Berry GT, Sullivan K, Gatti R, Bingham P.

Neuroradiology. 2003 May;45(5):315-9. Epub 2003 Apr 11.

PMID:
12740724
10.

TUBB4A de novo mutations cause isolated hypomyelination.

Pizzino A, Pierson TM, Guo Y, Helman G, Fortini S, Guerrero K, Saitta S, Murphy JL, Padiath Q, Xie Y, Hakonarson H, Xu X, Funari T, Fox M, Taft RJ, van der Knaap MS, Bernard G, Schiffmann R, Simons C, Vanderver A.

Neurology. 2014 Sep 2;83(10):898-902. doi: 10.1212/WNL.0000000000000754. Epub 2014 Aug 1.

11.

Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.

Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T, Morimoto M, Ando N, Ikuta Y, Nakashima M, Tsurusaki Y, Miyake N, Ogata K, Matsumoto N, Saitsu H.

Neurology. 2014 Jun 17;82(24):2230-7. doi: 10.1212/WNL.0000000000000535. Epub 2014 May 21.

PMID:
24850488
12.

Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

Poretti A, Häusler M, von Moers A, Baumgartner B, Zerres K, Klein A, Aiello C, Moro F, Zanni G, Santorelli FM, Huisman TA, Weis J, Valente EM, Bertini E, Boltshauser E.

Cerebellum. 2014 Feb;13(1):79-88. doi: 10.1007/s12311-013-0521-8.

PMID:
24013853
13.

Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients.

Al-Maawali A, Blaser S, Yoon G.

J Child Neurol. 2012 Sep;27(9):1121-32. doi: 10.1177/0883073812448680. Epub 2012 Jul 4.

14.

Posterior fossa imaging in 158 children with ataxia.

Boddaert N, Desguerre I, Bahi-Buisson N, Romano S, Valayannopoulos V, Saillour Y, Seidenwurm D, Grevent D, Berteloot L, Lebre AS, Zilbovicius M, Puget S, Salomon R, Attie-Bitach T, Munnich A, Brunelle F, de Lonlay P.

J Neuroradiol. 2010 Oct;37(4):220-30. doi: 10.1016/j.neurad.2009.12.009. Epub 2010 Apr 7.

15.

Cerebellar vermis hypoplasia - non progressive congenital ataxia: clinical and radiological findings in a pair of siblings.

Bruck I, Antoniuk SA, Carvalho Neto AD, Spessatto A.

Arq Neuropsiquiatr. 2000 Sep;58(3B):897-900.

16.

Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.

Lines MA, Jobling R, Brady L, Marshall CR, Scherer SW, Rodriguez AR, Lee L, Lang AE, Mestre TA, Wanders RJ, Ferdinandusse S, Tarnopolsky MA; Canadian Pediatric Genetic Disorders Sequencing Consortium (FORGE Canada).

Neurology. 2014 Mar 18;82(11):963-8. doi: 10.1212/WNL.0000000000000219. Epub 2014 Feb 19.

17.

Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.

Sasaki M, Ohba C, Iai M, Hirabayashi S, Osaka H, Hiraide T, Saitsu H, Matsumoto N.

J Neurol. 2015 May;262(5):1278-84. doi: 10.1007/s00415-015-7705-8. Epub 2015 Mar 21.

PMID:
25794864
18.

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

Spiegel R, Pines O, Ta-Shma A, Burak E, Shaag A, Halvardson J, Edvardson S, Mahajna M, Zenvirt S, Saada A, Shalev S, Feuk L, Elpeleg O.

Am J Hum Genet. 2012 Mar 9;90(3):518-23. doi: 10.1016/j.ajhg.2012.01.009.

19.

Diagnostic approach to cerebellar disease in children.

D'Arrigo S, Viganò L, Grazia Bruzzone M, Marzaroli M, Nikas I, Riva D, Pantaleoni C.

J Child Neurol. 2005 Nov;20(11):859-66.

PMID:
16417854
20.

Primary degeneration of the granular layer of the cerebellum. A study of 14 patients and review of the literature.

Pascual-Castroviejo I, Gutierrez M, Morales C, Gonzalez-Mediero I, Martínez-Bermejo A, Pascual-Pascual SI.

Neuropediatrics. 1994 Aug;25(4):183-90. Review.

PMID:
7824090
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