131 related articles for article (PubMed ID: 19072839)
1. Clinical and genetic study of a novel mutation in the REEP1 gene.
Liu SG; Che FY; Heng XY; Li FF; Huang SZ; Lu DG; Hou SJ; Liu SE; Wang Q; Wang HP; Ma X
Synapse; 2009 Mar; 63(3):201-5. PubMed ID: 19072839
[TBL] [Abstract][Full Text] [Related]
2. Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia.
Liu SG; Zhao JJ; Zhuang MY; Li FF; Zhang QJ; Huang SZ; Che FY; Lu DG; Liu SE; Teng JJ; Ma X
J Neurol Sci; 2008 Mar; 266(1-2):109-14. PubMed ID: 17928003
[TBL] [Abstract][Full Text] [Related]
3. Motor and somatosensory evoked potentials in Autosomal Dominant Hereditary Spastic Paraparesis (ADHSP) linked to chromosome 2p, SPG4.
Sartucci F; Tovani S; Murri L; Sagliocco L
Brain Res Bull; 2007 Sep; 74(4):243-9. PubMed ID: 17720546
[TBL] [Abstract][Full Text] [Related]
4. New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).
Hewamadduma C; McDermott C; Kirby J; Grierson A; Panayi M; Dalton A; Rajabally Y; Shaw P
Neurogenetics; 2009 Apr; 10(2):105-10. PubMed ID: 19034539
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 15667412
[TBL] [Abstract][Full Text] [Related]
6. 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; 53(1):44-50. PubMed ID: 10408535
[TBL] [Abstract][Full Text] [Related]
7. REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
Beetz C; Schüle R; Deconinck T; Tran-Viet KN; Zhu H; Kremer BP; Frints SG; van Zelst-Stams WA; Byrne P; Otto S; Nygren AO; Baets J; Smets K; Ceulemans B; Dan B; Nagan N; Kassubek J; Klimpe S; Klopstock T; Stolze H; Smeets HJ; Schrander-Stumpel CT; Hutchinson M; van de Warrenburg BP; Braastad C; Deufel T; Pericak-Vance M; Schöls L; de Jonghe P; Züchner S
Brain; 2008 Apr; 131(Pt 4):1078-86. PubMed ID: 18321925
[TBL] [Abstract][Full Text] [Related]
8. Hereditary spastic paraplegia: clinical genetic study of 15 families.
Orlacchio A; Kawarai T; Totaro A; Errico A; St George-Hyslop PH; Rugarli EI; Bernardi G
Arch Neurol; 2004 Jun; 61(6):849-55. PubMed ID: 15210521
[TBL] [Abstract][Full Text] [Related]
9. Enhanced reticulospinal output in patients with (REEP1) hereditary spastic paraplegia type 31.
Fisher KM; Chinnery PF; Baker SN; Baker MR
J Neurol; 2013 Dec; 260(12):3182-4. PubMed ID: 24221643
[No Abstract] [Full Text] [Related]
10. Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability.
Kamada M; Kawarai T; Miyamoto R; Kawakita R; Tojima Y; Montecchiani C; D'Onofrio L; Caltagirone C; Orlacchio A; Kaji R
Parkinsonism Relat Disord; 2018 Jan; 46():79-83. PubMed ID: 29107646
[TBL] [Abstract][Full Text] [Related]
11. A novel REEP1 splicing mutation with broad clinical variability in a family with hereditary spastic paraplegia.
Park SY; Park JM; Lee B; Kim UK; Park JS
Gene; 2021 Jan; 765():145129. PubMed ID: 32905827
[TBL] [Abstract][Full Text] [Related]
12. Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants.
Toft A; Birk S; Ballegaard M; Dunø M; Hjermind LE; Nielsen JE; Svenstrup K
J Neurol; 2019 Mar; 266(3):735-744. PubMed ID: 30637453
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 24117163
[TBL] [Abstract][Full Text] [Related]
14. 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; 275(1-2):92-9. PubMed ID: 18835492
[TBL] [Abstract][Full Text] [Related]
15. [Clinical characteristics and spastin gene mutation analysis on an autosomal dominant kindred with hereditary spastic paraplegia].
Liu L; Liu YQ; Xu YM; Xue R; Tang YF; Zhao LL; Liu YH; Zhou D
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Apr; 24(2):224-6. PubMed ID: 17407089
[TBL] [Abstract][Full Text] [Related]
16. Mutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation.
Zhao N; Sui Y; Li XF; Liu W; Lu YP; Feng WH; Ma C; Wang YW; Bao HX; Huang F; Wang H; Yi DX; Han WT; Jiang M
Genet Mol Res; 2015 Nov; 14(4):14690-7. PubMed ID: 26600529
[TBL] [Abstract][Full Text] [Related]
17. Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis.
Kaji S; Kawarai T; Miyamoto R; Nodera H; Pedace L; Orlacchio A; Izumi Y; Takahashi R; Kaji R
J Neurol Sci; 2016 May; 364():45-9. PubMed ID: 27084214
[TBL] [Abstract][Full Text] [Related]
18. Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
Elert-Dobkowska E; Stepniak I; Krysa W; Rajkiewicz M; Rakowicz M; Sobanska A; Rudzinska M; Wasielewska A; Pilch J; Kubalska J; Lipczynska-Lojkowska W; Kulczycki J; Kurdziel K; Sikorska A; Beetz C; Zaremba J; Sulek A
J Neurol Sci; 2015 Dec; 359(1-2):35-9. PubMed ID: 26671083
[TBL] [Abstract][Full Text] [Related]
19. Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).
Schlang KJ; Arning L; Epplen JT; Stemmler S
BMC Med Genet; 2008 Jul; 9():71. PubMed ID: 18644145
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 15477516
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
