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Items: 1 to 20 of 153

1.

CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A.

Roos P, Svenstrup K, Danielsen ER, Thomsen C, Nielsen JE.

Acta Neurol Scand. 2014 May;129(5):330-4. doi: 10.1111/ane.12188. Epub 2013 Oct 1.

PMID:
24117163
2.

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

Goizet C, Boukhris A, Durr A, Beetz C, Truchetto J, Tesson C, Tsaousidou M, Forlani S, Guyant-Maréchal L, Fontaine B, Guimarães J, Isidor B, Chazouillères O, Wendum D, Grid D, Chevy F, Chinnery PF, Coutinho P, Azulay JP, Feki I, Mochel F, Wolf C, Mhiri C, Crosby A, Brice A, Stevanin G.

Brain. 2009 Jun;132(Pt 6):1589-600. doi: 10.1093/brain/awp073. Epub 2009 May 12.

PMID:
19439420
3.

Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.

Criscuolo C, Filla A, Coppola G, Rinaldi C, Carbone R, Pinto S, Wang Q, de Leva MF, Salvatore E, Banfi S, Brunetti A, Quarantelli M, Geschwind DH, Pappatà S, De Michele G.

J Neurol. 2009 Aug;256(8):1252-7. doi: 10.1007/s00415-009-5109-3. Epub 2009 Apr 12.

PMID:
19363635
4.

White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1.

Biancheri R, Ciccolella M, Rossi A, Tessa A, Cassandrini D, Minetti C, Santorelli FM.

Neuromuscul Disord. 2009 Jan;19(1):62-5. doi: 10.1016/j.nmd.2008.10.009.

PMID:
19187859
5.

Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.

Schubert SF, Hoffjan S, Dekomien G.

Mol Cell Probes. 2016 Feb;30(1):53-5. doi: 10.1016/j.mcp.2015.12.001. Epub 2015 Dec 20.

PMID:
26714052
6.

Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5.

Lan MY, Yeh TH, Chang YY, Kuo HC, Sun HS, Lai SC, Lu CS.

Eur J Neurol. 2015 Jan;22(1):211-4. doi: 10.1111/ene.12407. Epub 2014 Mar 18.

PMID:
24641183
7.

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.

Arnoldi A, Crimella C, Tenderini E, Martinuzzi A, D'Angelo MG, Musumeci O, Toscano A, Scarlato M, Fantin M, Bresolin N, Bassi MT.

Clin Genet. 2012 Feb;81(2):150-7. doi: 10.1111/j.1399-0004.2011.01624.x. Epub 2011 Jan 31.

PMID:
21214876
8.

Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.

Nielsen JE, Johnsen B, Koefoed P, Scheuer KH, Grønbech-Jensen M, Law I, Krabbe K, Nørremølle A, Eiberg H, Søndergård H, Dam M, Rehfeld JF, Krarup C, Paulson OB, Hasholt L, Sørensen SA.

Eur J Neurol. 2004 Dec;11(12):817-24.

PMID:
15667412
9.

Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations.

Siam A, Brancale A, Simons C.

J Mol Model. 2012 Feb;18(2):441-53. doi: 10.1007/s00894-011-1084-6. Epub 2011 May 4.

PMID:
21541746
10.

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.

Schüle R, Brandt E, Karle KN, Tsaousidou M, Klebe S, Klimpe S, Auer-Grumbach M, Crosby AH, Hübner CA, Schöls L, Deufel T, Beetz C.

Neurogenetics. 2009 Apr;10(2):97-104. doi: 10.1007/s10048-008-0158-9. Epub 2008 Oct 15.

PMID:
18855023
11.

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

Warnecke T, Duning T, Schwan A, Lohmann H, Epplen JT, Young P.

Neurology. 2007 Jul 24;69(4):368-75.

PMID:
17646629
12.

Tract-based spatial statistics of diffusion tensor imaging in hereditary spastic paraplegia with thin corpus callosum reveals widespread white matter changes.

Oğuz KK, Sanverdi E, Has A, Temuçin Ç, Türk S, Doerschner K.

Diagn Interv Radiol. 2013 May-Jun;19(3):181-6. doi: 10.5152/dir.2013.046.

13.

SPG5 and multiple sclerosis: clinical and genetic overlap?

Criscuolo C, Carbone R, Lieto M, Peluso S, Guacci A, Filla A, Quarantelli M, Lanzillo R, Morra VB, De Michele G.

Acta Neurol Scand. 2016 Jun;133(6):410-4. doi: 10.1111/ane.12476. Epub 2015 Sep 15.

PMID:
26370385
14.

Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q.

Hedera P, DiMauro S, Bonilla E, Wald J, Eldevik OP, Fink JK.

Neurology. 1999 Jul 13;53(1):44-50.

PMID:
10408535
15.

Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.

Liao SS, Shen L, Du J, Zhao GH, Wang XY, Yang Y, Xiao ZQ, Yuan Y, Jiang H, Li N, Sun HD, Wang JL, Wang CY, Zhou YF, Mo XY, Xia K, Tang BS.

J Neurol Sci. 2008 Dec 15;275(1-2):92-9. doi: 10.1016/j.jns.2008.07.038. Epub 2008 Oct 2.

PMID:
18835492
16.

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.

Schöls L, Rattay TW, Martus P, Meisner C, Baets J, Fischer I, Jägle C, Fraidakis MJ, Martinuzzi A, Saute JA, Scarlato M, Antenora A, Stendel C, Höflinger P, Lourenco CM, Abreu L, Smets K, Paucar M, Deconinck T, Bis DM, Wiethoff S, Bauer P, Arnoldi A, Marques W, Jardim LB, Hauser S, Criscuolo C, Filla A, Züchner S, Bassi MT, Klopstock T, De Jonghe P, Björkhem I, Schüle R.

Brain. 2017 Dec 1;140(12):3112-3127. doi: 10.1093/brain/awx273.

PMID:
29126212
17.

CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects.

Noreau A, Dion PA, Szuto A, Levert A, Thibodeau P, Brais B, Dupré N, Rioux MF, Rouleau GA.

Can J Neurol Sci. 2012 Jan;39(1):91-4. No abstract available.

PMID:
22384504
18.

Novel mutations in the CYP7B1 gene cause hereditary spastic paraplegia.

Cao L, Fei QZ, Tang WG, Liu JR, Zheng L, Xiao Q, He SB, Fu Y, Chen SD.

Mov Disord. 2011 Jun;26(7):1354-6. doi: 10.1002/mds.23466. Epub 2011 Mar 30. No abstract available.

PMID:
21452256
19.

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.

Schlipf NA, Schüle R, Klimpe S, Karle KN, Synofzik M, Schicks J, Riess O, Schöls L, Bauer P.

Clin Genet. 2011 Aug;80(2):148-60. doi: 10.1111/j.1399-0004.2011.01715.x. Epub 2011 Jun 13.

PMID:
21623769
20.

Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1.

Di Fabio R, Marcotulli C, Tessa A, Leonardi L, Storti E, Pierelli F, Santorelli FM, Casali C.

J Neurol. 2014 Apr;261(4):747-51. doi: 10.1007/s00415-014-7247-5. Epub 2014 Feb 12.

PMID:
24519355

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