400 related articles for article (PubMed ID: 21599812)
1. 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]
2. Is NIPA1-associated hereditary spastic paraplegia always 'pure'? Further evidence of motor neurone disease and epilepsy as rare manifestations.
Tanti M; Cairns D; Mirza N; McCann E; Young C
Neurogenetics; 2020 Oct; 21(4):305-308. PubMed ID: 32500351
[TBL] [Abstract][Full Text] [Related]
3. Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia.
Fang SY; Chou YT; Hsu KC; Hsu SL; Yu KW; Tsai YS; Liao YC; Tsai PC; Lee YC
Ann Clin Transl Neurol; 2023 Mar; 10(3):353-362. PubMed ID: 36607129
[TBL] [Abstract][Full Text] [Related]
4. Epilepsy in hereditary spastic paraplegia associated with NIPA1 gene.
Boysen S; Elumalai V; ElSheikh RH; Aravindhan A; Veerapandiyan A
J Clin Neurosci; 2022 Jun; 100():212-213. PubMed ID: 35181192
[No Abstract] [Full Text] [Related]
5. 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]
6. SPG6 (NIPA1 variant): A report of a case with early-onset complex hereditary spastic paraplegia and brief literature review.
Spagnoli C; Schiavoni S; Rizzi S; Salerno GG; Frattini D; Koskenvuo J; Fusco C
J Clin Neurosci; 2021 Dec; 94():281-285. PubMed ID: 34863451
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots.
Beetz C; Schüle R; Klebe S; Klimpe S; Klopstock T; Lacour A; Otto S; Sperfeld AD; van de Warrenburg B; Schöls L; Deufel T
J Neurol Sci; 2008 May; 268(1-2):131-5. PubMed ID: 18191948
[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. Clinical and Genetic Features of Chinese Patients With
Fu J; Ma M; Li G; Zhang J
Front Genet; 2022; 13():859688. PubMed ID: 35464835
[No Abstract] [Full Text] [Related]
11. 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]
12. Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia.
Zhao M; Chen YJ; Wang MW; Lin XH; Dong EL; Chen WJ; Wang N; Lin X
Mol Diagn Ther; 2019 Dec; 23(6):781-789. PubMed ID: 31630374
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. 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]
17. NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter.
Goytain A; Hines RM; El-Husseini A; Quamme GA
J Biol Chem; 2007 Mar; 282(11):8060-8. PubMed ID: 17166836
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.
Sauter SM; Engel W; Neumann LM; Kunze J; Neesen J
Hum Mutat; 2004 Jan; 23(1):98. PubMed ID: 14695538
[TBL] [Abstract][Full Text] [Related]
20. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
Elleuch N; Depienne C; Benomar A; Hernandez AM; Ferrer X; Fontaine B; Grid D; Tallaksen CM; Zemmouri R; Stevanin G; Durr A; Brice A
Neurology; 2006 Mar; 66(5):654-9. PubMed ID: 16534102
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
