263 related articles for article (PubMed ID: 27601211)
1. 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]
2. Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature.
Khorrami M; Tabatabaiefar MA; Khorram E; Yaghini O; Rezaei M; Hejazifar A; Riahinezhad M; Kheirollahi M
J Hum Genet; 2021 Oct; 66(10):973-981. PubMed ID: 33767317
[TBL] [Abstract][Full Text] [Related]
3. Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.
Harlalka GV; McEntagart ME; Gupta N; Skrzypiec AE; Mucha MW; Chioza BA; Simpson MA; Sreekantan-Nair A; Pereira A; Günther S; Jahic A; Modarres H; Moore-Barton H; Trembath RC; Kabra M; Baple EL; Thakur S; Patton MA; Beetz C; Pawlak R; Crosby AH
Hum Mutat; 2016 Nov; 37(11):1157-1161. PubMed ID: 27492651
[TBL] [Abstract][Full Text] [Related]
4. TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum.
Tariq H; Naz S
Neurogenetics; 2017 Apr; 18(2):105-109. PubMed ID: 28124177
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Novel
Xu L; Wang Y; Wang W; Zhang R; Zhao D; Yun Y; Liu F; Zhao Y; Yan C; Lin P
J Med Genet; 2024 Mar; 61(4):325-331. PubMed ID: 37890998
[TBL] [Abstract][Full Text] [Related]
7. Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Kara E; Tucci A; Manzoni C; Lynch DS; Elpidorou M; Bettencourt C; Chelban V; Manole A; Hamed SA; Haridy NA; Federoff M; Preza E; Hughes D; Pittman A; Jaunmuktane Z; Brandner S; Xiromerisiou G; Wiethoff S; Schottlaender L; Proukakis C; Morris H; Warner T; Bhatia KP; Korlipara LV; Singleton AB; Hardy J; Wood NW; Lewis PA; Houlden H
Brain; 2016 Jul; 139(Pt 7):1904-18. PubMed ID: 27217339
[TBL] [Abstract][Full Text] [Related]
8. The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central-Southern China.
Wang C; Zhang YJ; Xu CH; Li D; Liu ZJ; Wu Y
Mol Genet Genomic Med; 2021 May; 9(5):e1627. PubMed ID: 33638609
[TBL] [Abstract][Full Text] [Related]
9. Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations.
Sprute R; Jergas H; Ölmez A; Alawbathani S; Karasoy H; Dafsari HS; Becker K; Daimagüler HS; Nürnberg P; Muntoni F; Topaloglu H; Uyanik G; Cirak S
Am J Med Genet A; 2021 Feb; 185(2):344-354. PubMed ID: 33155358
[TBL] [Abstract][Full Text] [Related]
10. Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
Dong EL; Wang C; Wu S; Lu YQ; Lin XH; Su HZ; Zhao M; He J; Ma LX; Wang N; Chen WJ; Lin X
Mol Neurodegener; 2018 Jul; 13(1):36. PubMed ID: 29980238
[TBL] [Abstract][Full Text] [Related]
11. Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia.
Cao Y; Zheng H; Zhu Z; Yao L; Tian W; Cao L
Mov Disord; 2024 Apr; 39(4):651-662. PubMed ID: 38291924
[TBL] [Abstract][Full Text] [Related]
12. Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in
Yu AC; Chan AY; Au WC; Shen Y; Chan TF; Chan HE
Cold Spring Harb Mol Case Stud; 2016 Nov; 2(6):a001248. PubMed ID: 27900367
[TBL] [Abstract][Full Text] [Related]
13. Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found.
Meszarosova AU; Seeman P; Jencik J; Drabova J; Cibochova R; Stellmachova J; Safka Brozkova D
Neurosci Lett; 2020 Mar; 721():134800. PubMed ID: 32007496
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.
Rydning SL; Dudesek A; Rimmele F; Funke C; Krüger S; Biskup S; Vigeland MD; Hjorthaug HS; Sejersted Y; Tallaksen C; Selmer KK; Kamm C
Eur J Neurol; 2018 Jul; 25(7):943-e71. PubMed ID: 29528531
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy.
Miyabayashi T; Ochiai T; Suzuki N; Aoki M; Inui T; Okubo Y; Sato R; Togashi N; Takashima H; Ishiura H; Tsuji S; Koh K; Takiyama Y; Haginoya K
J Hum Genet; 2019 Feb; 64(2):171-176. PubMed ID: 30467354
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Novel compound heterozygous mutations of the SPG11 gene in Korean families with hereditary spastic paraplegia with thin corpus callosum.
Kim SM; Lee JS; Kim S; Kim HJ; Kim MH; Lee KM; Hong YH; Park KS; Sung JJ; Lee KW
J Neurol; 2009 Oct; 256(10):1714-8. PubMed ID: 19513778
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
