237 related articles for article (PubMed ID: 20971220)
1. Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.
Abdel Aleem A; Abu-Shahba N; Swistun D; Silhavy J; Bielas SL; Sattar S; Gleeson JG; Zaki MS
Eur J Med Genet; 2011; 54(1):82-5. PubMed ID: 20971220
[TBL] [Abstract][Full Text] [Related]
2. A case report of SPG11 mutations in a Chinese ARHSP-TCC family.
Zhang L; McFarland KN; Jiao J; Jiao Y
BMC Neurol; 2016 Jun; 16():87. PubMed ID: 27256065
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Stevanin G; Santorelli FM; Azzedine H; Coutinho P; Chomilier J; Denora PS; Martin E; Ouvrard-Hernandez AM; Tessa A; Bouslam N; Lossos A; Charles P; Loureiro JL; Elleuch N; Confavreux C; Cruz VT; Ruberg M; Leguern E; Grid D; Tazir M; Fontaine B; Filla A; Bertini E; Durr A; Brice A
Nat Genet; 2007 Mar; 39(3):366-72. PubMed ID: 17322883
[TBL] [Abstract][Full Text] [Related]
5. Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).
Paisan-Ruiz C; Nath P; Wood NW; Singleton A; Houlden H
Eur J Neurol; 2008 Oct; 15(10):1065-70. PubMed ID: 18717728
[TBL] [Abstract][Full Text] [Related]
6. Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.
Crimella C; Arnoldi A; Crippa F; Mostacciuolo ML; Boaretto F; Sironi M; D'Angelo MG; Manzoni S; Piccinini L; Turconi AC; Toscano A; Musumeci O; Benedetti S; Fazio R; Bresolin N; Daga A; Martinuzzi A; Bassi MT
J Med Genet; 2009 May; 46(5):345-51. PubMed ID: 19196735
[TBL] [Abstract][Full Text] [Related]
7. Novel mutations c.[5121_5122insAG]+[6859C>T] of the SPG11 gene associated with cerebellum hypometabolism in a Chinese case of hereditary spastic paraplegia with thin corpus callosum.
Ma J; Xiong L; Chang Y; Jing X; Huang W; Hu B; Shi X; Xu W; Wang Y; Li X
Parkinsonism Relat Disord; 2014 Feb; 20(2):256-9. PubMed ID: 24315199
[TBL] [Abstract][Full Text] [Related]
8. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
Denora PS; Schlesinger D; Casali C; Kok F; Tessa A; Boukhris A; Azzedine H; Dotti MT; Bruno C; Truchetto J; Biancheri R; Fedirko E; Di Rocco M; Bueno C; Malandrini A; Battini R; Sickl E; de Leva MF; Boespflug-Tanguy O; Silvestri G; Simonati A; Said E; Ferbert A; Criscuolo C; Heinimann K; Modoni A; Weber P; Palmeri S; Plasilova M; Pauri F; Cassandrini D; Battisti C; Pini A; Tosetti M; Hauser E; Masciullo M; Di Fabio R; Piccolo F; Denis E; Cioni G; Massa R; Della Giustina E; Calabrese O; Melone MA; De Michele G; Federico A; Bertini E; Durr A; Brockmann K; van der Knaap MS; Zatz M; Filla A; Brice A; Stevanin G; Santorelli FM
Hum Mutat; 2009 Mar; 30(3):E500-19. PubMed ID: 19105190
[TBL] [Abstract][Full Text] [Related]
9. Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity.
Lossos A; Stevanin G; Meiner V; Argov Z; Bouslam N; Newman JP; Gomori JM; Klebe S; Lerer I; Elleuch N; Silverstein S; Durr A; Abramsky O; Ben-Nariah Z; Brice A
Arch Neurol; 2006 May; 63(5):756-60. PubMed ID: 16682547
[TBL] [Abstract][Full Text] [Related]
10. Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.
Olmez A; Uyanik G; Ozgül RK; Gross C; Cirak S; Elibol B; Anlar B; Winner B; Hehr U; Topaloglu H; Winkler J
Neuropediatrics; 2006 Apr; 37(2):59-66. PubMed ID: 16773502
[TBL] [Abstract][Full Text] [Related]
11. SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.
Paisan-Ruiz C; Dogu O; Yilmaz A; Houlden H; Singleton A
Neurology; 2008 Apr; 70(16 Pt 2):1384-9. PubMed ID: 18337587
[TBL] [Abstract][Full Text] [Related]
12. Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity.
Pippucci T; Panza E; Pompilii E; Donadio V; Borreca A; Babalini C; Patrono C; Zuntini R; Kawarai T; Bernardi G; Liguori R; Romeo G; Montagna P; Orlacchio A; Seri M
Eur J Neurol; 2009 Jan; 16(1):121-6. PubMed ID: 19087158
[TBL] [Abstract][Full Text] [Related]
13. 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; 305(1-2):67-70. PubMed ID: 21440262
[TBL] [Abstract][Full Text] [Related]
14. Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.
Stevanin G; Montagna G; Azzedine H; Valente EM; Durr A; Scarano V; Bouslam N; Cassandrini D; Denora PS; Criscuolo C; Belarbi S; Orlacchio A; Jonveaux P; Silvestri G; Hernandez AM; De Michele G; Tazir M; Mariotti C; Brockmann K; Malandrini A; van der Knapp MS; Neri M; Tonekaboni H; Melone MA; Tessa A; Dotti MT; Tosetti M; Pauri F; Federico A; Casali C; Cruz VT; Loureiro JL; Zara F; Forlani S; Bertini E; Coutinho P; Filla A; Brice A; Santorelli FM
Neurogenetics; 2006 Jul; 7(3):149-56. PubMed ID: 16699786
[TBL] [Abstract][Full Text] [Related]
15. A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.
Al-Yahyaee S; Al-Gazali LI; De Jonghe P; Al-Barwany H; Al-Kindi M; De Vriendt E; Chand P; Koul R; Jacob PC; Gururaj A; Sztriha L; Parrado A; Van Broeckhoven C; Bayoumi RA
Neurology; 2006 Apr; 66(8):1230-4. PubMed ID: 16636240
[TBL] [Abstract][Full Text] [Related]
16. Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.
Hehr U; Bauer P; Winner B; Schule R; Olmez A; Koehler W; Uyanik G; Engel A; Lenz D; Seibel A; Hehr A; Ploetz S; Gamez J; Rolfs A; Weis J; Ringer TM; Bonin M; Schuierer G; Marienhagen J; Bogdahn U; Weber BH; Topaloglu H; Schols L; Riess O; Winkler J
Ann Neurol; 2007 Dec; 62(6):656-65. PubMed ID: 18067136
[TBL] [Abstract][Full Text] [Related]
17. 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;
Brain; 2008 Mar; 131(Pt 3):772-84. PubMed ID: 18079167
[TBL] [Abstract][Full Text] [Related]
18. Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis.
Wakil SM; Murad HN; Baz BM; Hagos ST; Al-Amr RA; Al-Yamani SA; Al-Wadaee SM; Meyer BF; Bohlega SA
Neurosciences (Riyadh); 2012 Jan; 17(1):48-52. PubMed ID: 22246010
[TBL] [Abstract][Full Text] [Related]
19. SPG11 compound mutations in spastic paraparesis with thin corpus callosum.
Samaranch L; Riverol M; Masdeu JC; Lorenzo E; Vidal-Taboada JM; Irigoyen J; Pastor MA; de Castro P; Pastor P
Neurology; 2008 Jul; 71(5):332-6. PubMed ID: 18663179
[TBL] [Abstract][Full Text] [Related]
20. SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.
Del Bo R; Di Fonzo A; Ghezzi S; Locatelli F; Stevanin G; Costa A; Corti S; Bresolin N; Comi GP
Neurogenetics; 2007 Nov; 8(4):301-5. PubMed ID: 17717710
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]