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Results: 1 to 20 of 114

1.

A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: a case report with literature review.

Cao L, Huang XJ, Chen CJ, Chen SD.

J Neurol Sci. 2013 Jun 15;329(1-2):1-5. doi: 10.1016/j.jns.2013.02.026. Epub 2013 Apr 6. Review.

PMID:
23566484
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.

Garone C, Pippucci T, Cordelli DM, Zuntini R, Castegnaro G, Marconi C, Graziano C, Marchiani V, Verrotti A, Seri M, Franzoni E.

Dev Med Child Neurol. 2011 Oct;53(10):958-61. doi: 10.1111/j.1469-8749.2011.03993.x. Epub 2011 May 18.

PMID:
21592092
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.

Tzoulis C, Denora PS, Santorelli FM, Bindoff LA.

J Neurol. 2008 Aug;255(8):1142-4. doi: 10.1007/s00415-008-0858-y. Epub 2008 Jun 23.

PMID:
18563470
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations.

Liao X, Luo Y, Zhan Z, Du J, Hu Z, Wang J, Guo J, Hu Z, Yan X, Pan Q, Xia K, Tang B, Shen L.

Clin Genet. 2013 Dec 20. doi: 10.1111/cge.12336. [Epub ahead of print]

PMID:
24359114
[PubMed - as supplied by publisher]
11.

Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition?

Rupps R, Hukin J, Balicki M, Mercimek-Mahmutoglu S, Rolfs A, Dias C.

J Child Neurol. 2013 Nov;28(11):1500-1504. Epub 2012 Sep 10.

PMID:
22965561
[PubMed - as supplied by publisher]
12.

Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3.

Kwon MJ, Lee ST, Kim JW, Sung DH, Ki CS.

Ann Clin Lab Sci. 2010 Fall;40(4):375-9.

PMID:
20947813
[PubMed - indexed for MEDLINE]
13.

Novel SPG11 mutations in Chinese families with hereditary spastic paraplegia with thin corpus callosum.

Cao L, Rong TY, Huang XJ, Fang R, Wu ZY, Tang HD, Chen SD.

Parkinsonism Relat Disord. 2013 Mar;19(3):367-70. doi: 10.1016/j.parkreldis.2012.10.007. Epub 2012 Oct 31.

PMID:
23121729
[PubMed - indexed for MEDLINE]
14.

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

Kruer MC, Paisán-Ruiz C, Boddaert N, Yoon MY, Hama H, Gregory A, Malandrini A, Woltjer RL, Munnich A, Gobin S, Polster BJ, Palmeri S, Edvardson S, Hardy J, Houlden H, Hayflick SJ.

Ann Neurol. 2010 Nov;68(5):611-8. doi: 10.1002/ana.22122.

PMID:
20853438
[PubMed - indexed for MEDLINE]
15.

Two novel mutations in the Spastin gene of Chinese patients with hereditary spastic paraplegia.

Fei QZ, Tang WG, Rong TY, Tang HD, Liu JR, Guo ZL, Fu Y, Xiao Q, Wang XJ, He SB, Cao L, Chen SD.

Eur J Neurol. 2011 Sep;18(9):1194-6. doi: 10.1111/j.1468-1331.2011.03358.x. Epub 2011 Feb 8.

PMID:
21834905
[PubMed - indexed for MEDLINE]
16.

Four mutations of the spastin gene in Japanese families with spastic paraplegia.

Basri R, Yabe I, Soma H, Takei A, Nishimura H, Machino Y, Kokubo Y, Kosugi M, Okada R, Yukitake M, Tachibana H, Kuroda Y, Kuzuhara S, Sasaki H.

J Hum Genet. 2006;51(8):711-5. Epub 2006 Jun 21.

PMID:
16788734
[PubMed - indexed for MEDLINE]
17.

Hereditary spastic paraplegia with hypoplastic corpus callosum in a Turkish family.

Gucuyener K, Hirfanoglu T, Ok I, Cansu A, Serdaroglu A.

J Child Neurol. 2007 Feb;22(2):214-7.

PMID:
17621486
[PubMed - indexed for MEDLINE]
18.

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .

Bauer P, Leshinsky-Silver E, Blumkin L, Schlipf N, Schröder C, Schicks J, Lev D, Riess O, Lerman-Sagie T, Schöls L.

Neurogenetics. 2012 Feb;13(1):73-6. doi: 10.1007/s10048-012-0314-0.

PMID:
22290197
[PubMed - indexed for MEDLINE]
19.

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.

Dick KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S, Crosby AH.

Neurology. 2008 Jul 22;71(4):248-52. doi: 10.1212/01.wnl.0000319610.29522.8a. Epub 2008 May 7.

PMID:
18463364
[PubMed - indexed for MEDLINE]
20.

Heterozygous FA2H mutations in autism spectrum disorders.

Scheid I, Maruani A, Huguet G, Leblond CS, Nygren G, Anckarsäter H, Beggiato A, Rastam M, Amsellem F, Gillberg IC, Elmaleh M, Leboyer M, Gillberg C, Betancur C, Coleman M, Hama H, Cook EH, Bourgeron T, Delorme R.

BMC Med Genet. 2013 Dec 3;14:124. doi: 10.1186/1471-2350-14-124.

PMID:
24299421
[PubMed - indexed for MEDLINE]
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