293 related articles for article (PubMed ID: 10448799)
21. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.
Dürr A; Camuzat A; Colin E; Tallaksen C; Hannequin D; Coutinho P; Fontaine B; Rossi A; Gil R; Rousselle C; Ruberg M; Stevanin G; Brice A
Arch Neurol; 2004 Dec; 61(12):1867-72. PubMed ID: 15596607
[TBL] [Abstract][Full Text] [Related]
22. Spastic paraplegia 15: linkage and clinical description of three Tunisian families.
Boukhris A; Feki I; Denis E; Miladi MI; Brice A; Mhiri C; Stevanin G
Mov Disord; 2008 Feb; 23(3):429-33. PubMed ID: 18098276
[TBL] [Abstract][Full Text] [Related]
23. A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1.
Meijer IA; Cossette P; Roussel J; Benard M; Toupin S; Rouleau GA
Ann Neurol; 2004 Oct; 56(4):579-82. PubMed ID: 15455396
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Genetics of hereditary spastic paraplegias.
Schüle R; Schöls L
Semin Neurol; 2011 Nov; 31(5):484-93. PubMed ID: 22266886
[TBL] [Abstract][Full Text] [Related]
26. A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.
Thiffault I; Rioux MF; Tetreault M; Jarry J; Loiselle L; Poirier J; Gros-Louis F; Mathieu J; Vanasse M; Rouleau GA; Bouchard JP; Lesage J; Brais B
Brain; 2006 Sep; 129(Pt 9):2332-40. PubMed ID: 16672289
[TBL] [Abstract][Full Text] [Related]
27. Distinct phenotypes within autosomal recessive ataxias not linked to already known loci.
Bouhlal Y; El-Euch-Fayeche G; Amouri R; Hentati F
Acta Myol; 2005 Oct; 24(2):155-61. PubMed ID: 16550933
[TBL] [Abstract][Full Text] [Related]
28. 'Complicated' autosomal dominant familial spastic paraplegia is genetically distinct from 'pure' forms.
Meierkord H; Nürnberg P; Mainz A; Marczinek K; Mrug M; Hampe J
Arch Neurol; 1997 Apr; 54(4):379-84. PubMed ID: 9109738
[TBL] [Abstract][Full Text] [Related]
29. A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.
Vazza G; Zortea M; Boaretto F; Micaglio GF; Sartori V; Mostacciuolo ML
Am J Hum Genet; 2000 Aug; 67(2):504-9. PubMed ID: 10877981
[TBL] [Abstract][Full Text] [Related]
30. Further evidence for a fourth gene causing X-linked pure spastic paraplegia.
Starling A; Rocco P; Cambi F; Hobson GM; Passos Bueno MR; Zatz M
Am J Med Genet; 2002 Aug; 111(2):152-6. PubMed ID: 12210342
[TBL] [Abstract][Full Text] [Related]
31. KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
Klebe S; Lossos A; Azzedine H; Mundwiller E; Sheffer R; Gaussen M; Marelli C; Nawara M; Carpentier W; Meyer V; Rastetter A; Martin E; Bouteiller D; Orlando L; Gyapay G; El-Hachimi KH; Zimmerman B; Gamliel M; Misk A; Lerer I; Brice A; Durr A; Stevanin G
Eur J Hum Genet; 2012 Jun; 20(6):645-9. PubMed ID: 22258533
[TBL] [Abstract][Full Text] [Related]
32. Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia.
Coarelli G; Romano S; Travaglini L; Ferraldeschi M; Nicita F; Spadaro M; Fornasiero A; Frontali M; Salvetti M; Bertini E; Ristori G
Clin Neurol Neurosurg; 2018 May; 168():60-63. PubMed ID: 29524657
[TBL] [Abstract][Full Text] [Related]
33. A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.
Hanein S; Dürr A; Ribai P; Forlani S; Leutenegger AL; Nelson I; Babron MC; Elleuch N; Depienne C; Charon C; Brice A; Stevanin G
Hum Genet; 2007 Nov; 122(3-4):261-73. PubMed ID: 17605047
[TBL] [Abstract][Full Text] [Related]
34. Early onset disease, anarthria, areflexia, and dystonia can be the distinctive features of SPG64, a very rare form of hereditary spastic paraplegias.
Ölmez A; Çetin GO; Karaer K
Am J Med Genet A; 2022 Sep; 188(9):2712-2717. PubMed ID: 35758610
[TBL] [Abstract][Full Text] [Related]
35. A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.
Polymeris AA; Tessa A; Anagnostopoulou K; Rubegni A; Galatolo D; Dinopoulos A; Gika AD; Youroukos S; Skouteli E; Santorelli FM; Pons R
J Neurol; 2016 Aug; 263(8):1604-11. PubMed ID: 27260292
[TBL] [Abstract][Full Text] [Related]
36. Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum.
Casali C; Valente EM; Bertini E; Montagna G; Criscuolo C; De Michele G; Villanova M; Damiano M; Pierallini A; Brancati F; Scarano V; Tessa A; Cricchi F; Grieco GS; Muglia M; Carella M; Martini B; Rossi A; Amabile GA; Nappi G; Filla A; Dallapiccola B; Santorelli FM
Neurology; 2004 Jan; 62(2):262-8. PubMed ID: 14745065
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24.
Schüle R; Bonin M; Dürr A; Forlani S; Sperfeld AD; Klimpe S; Mueller JC; Seibel A; van de Warrenburg BP; Bauer P; Schöls L
Neurology; 2009 Jun; 72(22):1893-8. PubMed ID: 19357379
[TBL] [Abstract][Full Text] [Related]
39. [AAA ATPases and hereditary spastic paraplegia].
Wang YG; Shen L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun; 26(3):298-301. PubMed ID: 19504443
[TBL] [Abstract][Full Text] [Related]
40. Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.
Elleuch N; Bouslam N; Hanein S; Lossos A; Hamri A; Klebe S; Meiner V; Birouk N; Lerer I; Grid D; Bacq D; Tazir M; Zelenika D; Argov Z; Durr A; Yahyaoui M; Benomar A; Brice A; Stevanin G
Neurogenetics; 2007 Nov; 8(4):307-15. PubMed ID: 17661097
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]