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Results: 1 to 20 of 110

Similar articles for PubMed (Select 23332916)

1.

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

Martin E, Schüle R, Smets K, Rastetter A, Boukhris A, Loureiro JL, Gonzalez MA, Mundwiller E, Deconinck T, Wessner M, Jornea L, Oteyza AC, Durr A, Martin JJ, Schöls L, Mhiri C, Lamari F, Züchner S, De Jonghe P, Kabashi E, Brice A, Stevanin G.

Am J Hum Genet. 2013 Feb 7;92(2):238-44. doi: 10.1016/j.ajhg.2012.11.021. Epub 2013 Jan 17.

2.

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.

Citterio A, Arnoldi A, Panzeri E, D'Angelo MG, Filosto M, Dilena R, Arrigoni F, Castelli M, Maghini C, Germiniasi C, Menni F, Martinuzzi A, Bresolin N, Bassi MT.

J Neurol. 2014 Feb;261(2):373-81. doi: 10.1007/s00415-013-7206-6. Epub 2013 Dec 13.

PMID:
24337409
3.

A novel GBA2 gene missense mutation in spastic ataxia.

Votsi C, Zamba-Papanicolaou E, Middleton LT, Pantzaris M, Christodoulou K.

Ann Hum Genet. 2014 Jan;78(1):13-22. doi: 10.1111/ahg.12045. Epub 2013 Nov 20.

PMID:
24252062
4.

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

Dick KJ, Eckhardt M, Paisán-Ruiz C, Alshehhi AA, Proukakis C, Sibtain NA, Maier H, Sharifi R, Patton MA, Bashir W, Koul R, Raeburn S, Gieselmann V, Houlden H, Crosby AH.

Hum Mutat. 2010 Apr;31(4):E1251-60. doi: 10.1002/humu.21205.

PMID:
20104589
5.

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, Dollfus H, Chinnery PF, Mancini C, Ferrer X, Sole G, Destée A, Mayer JM, Fontaine B, de Seze J, Clanet M, Ollagnon E, Busson P, Cazeneuve C, Stevanin G, Kaplan J, Rozet JM, Brice A, Durr A.

Brain. 2012 Oct;135(Pt 10):2980-93. doi: 10.1093/brain/aws240.

6.

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.

7.

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, Rosa AL, Lerer I, Hamri A, Alegria P, Loureiro J, Tada M, Hannequin D, Anheim M, Goizet C, Gonzalez-Martinez V, Le Ber I, Forlani S, Iwabuchi K, Meiner V, Uyanik G, Erichsen AK, Feki I, Pasquier F, Belarbi S, Cruz VT, Depienne C, Truchetto J, Garrigues G, Tallaksen C, Tranchant C, Nishizawa M, Vale J, Coutinho P, Santorelli FM, Mhiri C, Brice A, Durr A; SPATAX consortium.

Brain. 2008 Mar;131(Pt 3):772-84. Epub 2007 Dec 13.

8.

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

Pensato V, Castellotti B, Gellera C, Pareyson D, Ciano C, Nanetti L, Salsano E, Piscosquito G, Sarto E, Eoli M, Moroni I, Soliveri P, Lamperti E, Chiapparini L, Di Bella D, Taroni F, Mariotti C.

Brain. 2014 Jul;137(Pt 7):1907-20. doi: 10.1093/brain/awu121. Epub 2014 May 15.

PMID:
24833714
9.

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
10.

β-Glucosidase 2 (GBA2) activity and imino sugar pharmacology.

Ridley CM, Thur KE, Shanahan J, Thillaiappan NB, Shen A, Uhl K, Walden CM, Rahim AA, Waddington SN, Platt FM, van der Spoel AC.

J Biol Chem. 2013 Sep 6;288(36):26052-66. doi: 10.1074/jbc.M113.463562. Epub 2013 Jul 23.

11.

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).

Gonzalez M, Nampoothiri S, Kornblum C, Oteyza AC, Walter J, Konidari I, Hulme W, Speziani F, Schöls L, Züchner S, Schüle R.

Eur J Hum Genet. 2013 Nov;21(11):1214-8. doi: 10.1038/ejhg.2013.29. Epub 2013 Mar 13.

12.

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

Boukhris A, Schule R, Loureiro JL, Lourenço CM, Mundwiller E, Gonzalez MA, Charles P, Gauthier J, Rekik I, Acosta Lebrigio RF, Gaussen M, Speziani F, Ferbert A, Feki I, Caballero-Oteyza A, Dionne-Laporte A, Amri M, Noreau A, Forlani S, Cruz VT, Mochel F, Coutinho P, Dion P, Mhiri C, Schols L, Pouget J, Darios F, Rouleau GA, Marques W Jr, Brice A, Durr A, Zuchner S, Stevanin G.

Am J Hum Genet. 2013 Jul 11;93(1):118-23. doi: 10.1016/j.ajhg.2013.05.006. Epub 2013 Jun 6.

13.

A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum.

Boukhris A, Feki I, Elleuch N, Miladi MI, Boland-Augé A, Truchetto J, Mundwiller E, Jezequel N, Zelenika D, Mhiri C, Brice A, Stevanin G.

Neurogenetics. 2010 Oct;11(4):441-8. doi: 10.1007/s10048-010-0249-2. Epub 2010 Jul 1.

PMID:
20593214
14.

Novel compound heterozygous mutations of the SPG11 gene in Korean families with hereditary spastic paraplegia with thin corpus callosum.

Kim SM, Lee JS, Kim S, Kim HJ, Kim MH, Lee KM, Hong YH, Park KS, Sung JJ, Lee KW.

J Neurol. 2009 Oct;256(10):1714-8. doi: 10.1007/s00415-009-5189-0. Epub 2009 Jun 10.

PMID:
19513778
15.

Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia.

Zhao W, Zhu QY, Zhang JT, Liu H, Wang LJ, Chen ZQ, Guan LP, Huang XS, Yang L, Yu SY.

J Neurol Sci. 2013 Dec 15;335(1-2):112-7. doi: 10.1016/j.jns.2013.09.004. Epub 2013 Sep 10.

PMID:
24090761
16.

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

Tesson C, Nawara M, Salih MA, Rossignol R, Zaki MS, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Oteyza AC, El-Hachimi KH, Al Drees A, Bouslam N, Lamari F, Elmalik SA, Kabiraj MM, Seidahmed MZ, Esteves T, Gaussen M, Monin ML, Gyapay G, Lechner D, Gonzalez M, Depienne C, Mochel F, Lavie J, Schols L, Lacombe D, Yahyaoui M, Al Abdulkareem I, Zuchner S, Yamashita A, Benomar A, Goizet C, Durr A, Gleeson JG, Darios F, Brice A, Stevanin G.

Am J Hum Genet. 2012 Dec 7;91(6):1051-64. doi: 10.1016/j.ajhg.2012.11.001. Epub 2012 Nov 21.

17.

Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group.

Fink JK, Heiman-Patterson T, Bird T, Cambi F, Dubé MP, Figlewicz DA, Fink JK, Haines JL, Heiman-Patterson T, Hentati A, Pericak-Vance MA, Raskind W, Rouleau GA, Siddique T.

Neurology. 1996 Jun;46(6):1507-14. Review.

PMID:
8649538
18.

Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia.

Hedera P, Fenichel GM, Blair M, Haines JL.

Arch Neurol. 2004 Oct;61(10):1600-3.

PMID:
15477516
19.

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
20.

A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.

Blumkin L, Lerman-Sagie T, Lev D, Yosovich K, Leshinsky-Silver E.

J Neurol Sci. 2011 Jun 15;305(1-2):67-70. doi: 10.1016/j.jns.2011.03.011. Epub 2011 Mar 25.

PMID:
21440262
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