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Items: 19

1.

Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency.

Kruer MC, Jepperson TN, Weimer JM, Mroch A, Davis-Keppen L, Crotwell P, Parboosingh J.

Mov Disord. 2013 Nov;28(13):1904-5. doi: 10.1002/mds.25573. Epub 2013 Jun 27. No abstract available.

PMID:
23813796
2.

Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation.

Schlotawa L, Hotz A, Zeschnigk C, Hartmann B, Gärtner J, Morris-Rosendahl D.

J Neurol. 2013 Jun;260(6):1678-80. doi: 10.1007/s00415-013-6941-z. Epub 2013 May 14. No abstract available.

PMID:
23670308
3.

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.

Ali BR, Silhavy JL, Gleeson MJ, Gleeson JG, Al-Gazali L.

BMC Med Genet. 2012 Sep 14;13:80. doi: 10.1186/1471-2350-13-80.

4.

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.

Onat OE, Gulsuner S, Bilguvar K, Nazli Basak A, Topaloglu H, Tan M, Tan U, Gunel M, Ozcelik T.

Eur J Hum Genet. 2013 Mar;21(3):281-5. doi: 10.1038/ejhg.2012.170. Epub 2012 Aug 15.

5.

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.

6.

Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.

Gulsuner S, Tekinay AB, Doerschner K, Boyaci H, Bilguvar K, Unal H, Ors A, Onat OE, Atalar E, Basak AN, Topaloglu H, Kansu T, Tan M, Tan U, Gunel M, Ozcelik T.

Genome Res. 2011 Dec;21(12):1995-2003. doi: 10.1101/gr.126110.111. Epub 2011 Sep 1.

7.

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.

Kolb LE, Arlier Z, Yalcinkaya C, Ozturk AK, Moliterno JA, Erturk O, Bayrakli F, Korkmaz B, DiLuna ML, Yasuno K, Bilguvar K, Ozcelik T, Tuysuz B, State MW, Gunel M.

Neurogenetics. 2010 Jul;11(3):319-25. doi: 10.1007/s10048-009-0232-y. Epub 2010 Jan 15.

PMID:
20082205
8.

CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait.

Türkmen S, Guo G, Garshasbi M, Hoffmann K, Alshalah AJ, Mischung C, Kuss A, Humphrey N, Mundlos S, Robinson PN.

PLoS Genet. 2009 May;5(5):e1000487. doi: 10.1371/journal.pgen.1000487. Epub 2009 May 22.

9.

Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome).

Boycott KM, Bonnemann C, Herz J, Neuert S, Beaulieu C, Scott JN, Venkatasubramanian A, Parboosingh JS.

J Child Neurol. 2009 Oct;24(10):1310-5. doi: 10.1177/0883073809332696. Epub 2009 Mar 30.

10.

"Devolution" of bipedality.

Herz J, Boycott KM, Parboosingh JS.

Proc Natl Acad Sci U S A. 2008 May 27;105(21):E25. doi: 10.1073/pnas.0802584105. Epub 2008 May 16. No abstract available.

11.

Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene.

Türkmen S, Hoffmann K, Demirhan O, Aruoba D, Humphrey N, Mundlos S.

Eur J Hum Genet. 2008 Sep;16(9):1070-4. doi: 10.1038/ejhg.2008.73. Epub 2008 Mar 26.

12.

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.

Ozcelik T, Akarsu N, Uz E, Caglayan S, Gulsuner S, Onat OE, Tan M, Tan U.

Proc Natl Acad Sci U S A. 2008 Mar 18;105(11):4232-6. doi: 10.1073/pnas.0710010105. Epub 2008 Mar 7.

13.

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.

Moheb LA, Tzschach A, Garshasbi M, Kahrizi K, Darvish H, Heshmati Y, Kordi A, Najmabadi H, Ropers HH, Kuss AW.

Eur J Hum Genet. 2008 Feb;16(2):270-3. Epub 2007 Nov 28.

14.

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.

Fogel BL, Perlman S.

Lancet Neurol. 2007 Mar;6(3):245-57. Review.

PMID:
17303531
15.

Diagnosis and management of early- and late-onset cerebellar ataxia.

Brusse E, Maat-Kievit JA, van Swieten JC.

Clin Genet. 2007 Jan;71(1):12-24. Review.

PMID:
17204042
16.

Autosomal recessive cerebellar hypoplasia in the Hutterite population.

Glass HC, Boycott KM, Adams C, Barlow K, Scott JN, Chudley AE, Fujiwara TM, Morgan K, Wirrell E, McLeod DR.

Dev Med Child Neurol. 2005 Oct;47(10):691-5.

17.

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.

Boycott KM, Flavelle S, Bureau A, Glass HC, Fujiwara TM, Wirrell E, Davey K, Chudley AE, Scott JN, McLeod DR, Parboosingh JS.

Am J Hum Genet. 2005 Sep;77(3):477-83. Epub 2005 Jul 22.

18.

Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse.

Bomar JM, Benke PJ, Slattery EL, Puttagunta R, Taylor LP, Seong E, Nystuen A, Chen W, Albin RL, Patel PD, Kittles RA, Sheffield VC, Burmeister M.

Nat Genet. 2003 Nov;35(3):264-9. Epub 2003 Oct 12. Erratum in: Nat Genet. 2005 May;37(5):555.

PMID:
14556008
19.

Reelin and brain development.

Tissir F, Goffinet AM.

Nat Rev Neurosci. 2003 Jun;4(6):496-505. Review. No abstract available.

PMID:
12778121

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