110 related articles for article (PubMed ID: 17928003)
1. 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]
2. 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]
3. Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1.
Du J; Hu YC; Tang BS; Chen C; Luo YY; Zhan ZX; Zhao GH; Jiang H; Xia K; Shen L
Clin Neurol Neurosurg; 2011 Jul; 113(6):480-2. PubMed ID: 21419568
[TBL] [Abstract][Full Text] [Related]
4. Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).
Munhoz RP; Kawarai T; Teive HA; Raskin S; Sato C; Liang Y; St George-Hyslop PH; Rogaeva E
Mov Disord; 2006 Feb; 21(2):279-81. PubMed ID: 16267846
[TBL] [Abstract][Full Text] [Related]
5. 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]
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. Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study.
Nielsen JE; Krabbe K; Jennum P; Koefoed P; Jensen LN; Fenger K; Eiberg H; Hasholt L; Werdelin L; Sørensen SA
J Neurol Neurosurg Psychiatry; 1998 Jan; 64(1):61-6. PubMed ID: 9436729
[TBL] [Abstract][Full Text] [Related]
8. TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation.
Martinez-Lage M; Molina-Porcel L; Falcone D; McCluskey L; Lee VM; Van Deerlin VM; Trojanowski JQ
Acta Neuropathol; 2012 Aug; 124(2):285-91. PubMed ID: 22302102
[TBL] [Abstract][Full Text] [Related]
9. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).
Rainier S; Chai JH; Tokarz D; Nicholls RD; Fink JK
Am J Hum Genet; 2003 Oct; 73(4):967-71. PubMed ID: 14508710
[TBL] [Abstract][Full Text] [Related]
10. Recurrent de novo c.316G>A mutation in NIPA1 hotspot.
Hedera P
J Neurol Sci; 2013 Dec; 335(1-2):231-2. PubMed ID: 24075313
[TBL] [Abstract][Full Text] [Related]
11. A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.
Reed JA; Wilkinson PA; Patel H; Simpson MA; Chatonnet A; Robay D; Patton MA; Crosby AH; Warner TT
Neurogenetics; 2005 May; 6(2):79-84. PubMed ID: 15711826
[TBL] [Abstract][Full Text] [Related]
12. Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.
Chen S; Song C; Guo H; Xu P; Huang W; Zhou Y; Sun J; Li CX; Du Y; Li X; Liu Z; Geng D; Maxwell PH; Zhang C; Wang Y
Hum Mutat; 2005 Feb; 25(2):135-41. PubMed ID: 15643603
[TBL] [Abstract][Full Text] [Related]
13. NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy.
Svenstrup K; Møller RS; Christensen J; Budtz-Jørgensen E; Gilling M; Nielsen JE
Eur J Neurol; 2011 Sep; 18(9):1197-9. PubMed ID: 21599812
[TBL] [Abstract][Full Text] [Related]
14. Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China.
Luo Y; Chen C; Zhan Z; Wang Y; Du J; Hu Z; Liao X; Zhao G; Wang J; Yan X; Jiang H; Pan Q; Xia K; Tang B; Shen L
Neurodegener Dis; 2014; 14(4):176-83. PubMed ID: 25341883
[TBL] [Abstract][Full Text] [Related]
15. Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study.
Auer-Grumbach M; Löscher WN; Wagner K; Petek E; Körner E; Offenbacher H; Hartung HP
Brain; 2000 Aug; 123 ( Pt 8)():1612-23. PubMed ID: 10908191
[TBL] [Abstract][Full Text] [Related]
16. Electrophysiological evidence of functional improvement in the corticospinal tract after laminoplasty in patients with cervical compressive myelopathy: clinical article.
Nakanishi K; Tanaka N; Kamei N; Ohta R; Fujioka Y; Hiramatsu T; Ujigo S; Ochi M
J Neurosurg Spine; 2014 Aug; 21(2):210-6. PubMed ID: 24855997
[TBL] [Abstract][Full Text] [Related]
17. A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.
Lo Giudice M; Neri M; Falco M; Sturnio M; Calzolari E; Di Benedetto D; Fichera M
Arch Neurol; 2006 Feb; 63(2):284-7. PubMed ID: 16476820
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 15477516
[TBL] [Abstract][Full Text] [Related]
19. Childhood-onset spastic paraplegia with NIPAL gene mutation.
Bien-Willner R; Sambuughin N; Holley H; Bodensteiner J; Sivakumar K
J Child Neurol; 2006 Nov; 21(11):974-7. PubMed ID: 17092466
[TBL] [Abstract][Full Text] [Related]
20. Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia.
Kaneko S; Kawarai T; Yip E; Salehi-Rad S; Sato C; Orlacchio A; Bernardi G; Liang Y; Hasegawa H; Rogaeva E; St George-Hyslop P
Mov Disord; 2006 Sep; 21(9):1531-3. PubMed ID: 16795073
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
