311 related articles for article (PubMed ID: 32242913)
41. Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.
Sauter S; Miterski B; Klimpe S; Bönsch D; Schöls L; Visbeck A; Papke T; Hopf HC; Engel W; Deufel T; Epplen JT; Neesen J
Hum Mutat; 2002 Aug; 20(2):127-32. PubMed ID: 12124993
[TBL] [Abstract][Full Text] [Related]
42. Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia.
Battini R; Fogli A; Borghetti D; Michelucci A; Perazza S; Baldinotti F; Conidi ME; Ferreri MI; Simi P; Cioni G
Eur J Neurol; 2011 Jan; 18(1):150-7. PubMed ID: 20550563
[TBL] [Abstract][Full Text] [Related]
43. SPAST mutations in Australian patients with hereditary spastic paraplegia.
Vandebona H; Kerr NP; Liang C; Sue CM
Intern Med J; 2012 Dec; 42(12):1342-7. PubMed ID: 23252998
[TBL] [Abstract][Full Text] [Related]
44. Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.
Chen J; Zhao Z; Shen H; Bing Q; Li N; Guo X; Hu J
BMC Neurol; 2022 May; 22(1):180. PubMed ID: 35578252
[TBL] [Abstract][Full Text] [Related]
45. Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients.
Mészárosová AU; Grečmalová D; Brázdilová M; Dvořáčková N; Kalina Z; Čermáková M; Vávrová D; Smetanová I; Staněk D; Seeman P
Ann Hum Genet; 2017 Nov; 81(6):249-257. PubMed ID: 28736820
[TBL] [Abstract][Full Text] [Related]
46. Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
Morais S; Raymond L; Mairey M; Coutinho P; Brandão E; Ribeiro P; Loureiro JL; Sequeiros J; Brice A; Alonso I; Stevanin G
Eur J Hum Genet; 2017 Nov; 25(11):1217-1228. PubMed ID: 28832565
[TBL] [Abstract][Full Text] [Related]
47. Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children.
Wang J; Fang F; Ding C; Li J; Wu Y; Zhang W; Bao X; Lv J; Wang X; Ren X;
Dev Med Child Neurol; 2023 Mar; 65(3):416-423. PubMed ID: 36109173
[TBL] [Abstract][Full Text] [Related]
48. Mild cognitive impairment in novel SPG11 mutation-related sporadic hereditary spastic paraplegia with thin corpus callosum: case series.
Li C; Yan Q; Duan FJ; Zhao C; Zhang Z; Du Y; Zhang W
BMC Neurol; 2021 Jan; 21(1):12. PubMed ID: 33430805
[TBL] [Abstract][Full Text] [Related]
49. A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.
Kilic MA; Yildiz EP; Deniz A; Coskun O; Kurekci F; Avci R; Genc HM; Yesil G; Akbas S; Yesilyurt A; Kara B
Pediatr Neurol; 2024 Mar; 152():189-195. PubMed ID: 38301322
[TBL] [Abstract][Full Text] [Related]
50. Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity.
Boukhris A; Stevanin G; Feki I; Denis E; Elleuch N; Miladi MI; Truchetto J; Denora P; Belal S; Mhiri C; Brice A
Arch Neurol; 2008 Mar; 65(3):393-402. PubMed ID: 18332254
[TBL] [Abstract][Full Text] [Related]
51. Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.
Svenstrup K; Bross P; Koefoed P; Hjermind LE; Eiberg H; Born AP; Vissing J; Gyllenborg J; Nørremølle A; Hasholt L; Nielsen JE
J Neurol Sci; 2009 Sep; 284(1-2):90-5. PubMed ID: 19423133
[TBL] [Abstract][Full Text] [Related]
52. Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.
Montenegro G; Rebelo AP; Connell J; Allison R; Babalini C; D'Aloia M; Montieri P; Schüle R; Ishiura H; Price J; Strickland A; Gonzalez MA; Baumbach-Reardon L; Deconinck T; Huang J; Bernardi G; Vance JM; Rogers MT; Tsuji S; De Jonghe P; Pericak-Vance MA; Schöls L; Orlacchio A; Reid E; Züchner S
J Clin Invest; 2012 Feb; 122(2):538-44. PubMed ID: 22232211
[TBL] [Abstract][Full Text] [Related]
53. Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.
Elsayed LEO; Mohammed IN; Hamed AAA; Elseed MA; Johnson A; Mairey M; Mohamed HESA; Idris MN; Salih MAM; El-Sadig SM; Koko ME; Mohamed AYO; Raymond L; Coutelier M; Darios F; Siddig RA; Ahmed AKMA; Babai AMA; Malik HMO; Omer ZMBM; Mohamed EOE; Eltahir HB; Magboul NAA; Bushara EE; Elnour A; Rahim SMA; Alattaya A; Elbashir MI; Ibrahim ME; Durr A; Audhya A; Brice A; Ahmed AE; Stevanin G
Eur J Hum Genet; 2016 Jan; 25(1):100-110. PubMed ID: 27601211
[TBL] [Abstract][Full Text] [Related]
54. A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature.
Nan H; Shiraku H; Mizuno T; Takiyama Y
BMC Neurol; 2021 Nov; 21(1):439. PubMed ID: 34753439
[TBL] [Abstract][Full Text] [Related]
55. Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
Estrada-Cuzcano A; Martin S; Chamova T; Synofzik M; Timmann D; Holemans T; Andreeva A; Reichbauer J; De Rycke R; Chang DI; van Veen S; Samuel J; Schöls L; Pöppel T; Mollerup Sørensen D; Asselbergh B; Klein C; Zuchner S; Jordanova A; Vangheluwe P; Tournev I; Schüle R
Brain; 2017 Feb; 140(2):287-305. PubMed ID: 28137957
[TBL] [Abstract][Full Text] [Related]
56. 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]
57. Homozygosity mapping and next generation sequencing for the genetic diagnosis of hereditary ataxia and spastic paraplegia in consanguineous families.
Jiao B; Zhou Z; Hu Z; Du J; Liao X; Luo Y; Wang J; Yan X; Jiang H; Tang B; Shen L
Parkinsonism Relat Disord; 2020 Nov; 80():65-72. PubMed ID: 32961396
[TBL] [Abstract][Full Text] [Related]
58. Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.
Park SH; Zhu PP; Parker RL; Blackstone C
J Clin Invest; 2010 Apr; 120(4):1097-110. PubMed ID: 20200447
[TBL] [Abstract][Full Text] [Related]
59. Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.
Willkomm L; Heredia R; Hoffmann K; Wang H; Voit T; Hoffman EP; Cirak S
J Hum Genet; 2016 Jun; 61(6):571-3. PubMed ID: 26888483
[TBL] [Abstract][Full Text] [Related]
60. The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
Travaglini L; Aiello C; Stregapede F; D'Amico A; Alesi V; Ciolfi A; Bruselles A; Catteruccia M; Pizzi S; Zanni G; Loddo S; Barresi S; Vasco G; Tartaglia M; Bertini E; Nicita F
Neurogenetics; 2018 May; 19(2):111-121. PubMed ID: 29691679
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
