195 related articles for article (PubMed ID: 36247768)
1. Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement.
Lan MY; Lu CS; Wu SL; Chen YF; Sung YF; Tu MC; Chang YY
Front Neurol; 2022; 13():1005670. PubMed ID: 36247768
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Hereditary spastic paraplegia: new insights into clinical variability and spasticity-ataxia phenotype, and novel mutations.
Sahin I; Saat H
Acta Neurol Belg; 2022 Dec; 122(6):1529-1535. PubMed ID: 34420199
[TBL] [Abstract][Full Text] [Related]
5. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Minnerop M; Kurzwelly D; Wagner H; Soehn AS; Reichbauer J; Tao F; Rattay TW; Peitz M; Rehbach K; Giorgetti A; Pyle A; Thiele H; Altmüller J; Timmann D; Karaca I; Lennarz M; Baets J; Hengel H; Synofzik M; Atasu B; Feely S; Kennerson M; Stendel C; Lindig T; Gonzalez MA; Stirnberg R; Sturm M; Roeske S; Jung J; Bauer P; Lohmann E; Herms S; Heilmann-Heimbach S; Nicholson G; Mahanjah M; Sharkia R; Carloni P; Brüstle O; Klopstock T; Mathews KD; Shy ME; de Jonghe P; Chinnery PF; Horvath R; Kohlhase J; Schmitt I; Wolf M; Greschus S; Amunts K; Maier W; Schöls L; Nürnberg P; Zuchner S; Klockgether T; Ramirez A; Schüle R
Brain; 2017 Jun; 140(6):1561-1578. PubMed ID: 28459997
[TBL] [Abstract][Full Text] [Related]
6. Clinical and genetic aspects of hereditary spastic paraplegia in patients from Turkey.
Akçakaya NH; Özeş Ak B; Gonzalez MA; Züchner S; Battaloğlu E; Parman Y
Neurol Neurochir Pol; 2020; 54(2):176-184. PubMed ID: 32242913
[TBL] [Abstract][Full Text] [Related]
7. Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Pensato V; Castellotti B; Gellera C; Pareyson D; Ciano C; Nanetti L; Salsano E; Piscosquito G; Sarto E; Eoli M; Moroni I; Soliveri P; Lamperti E; Chiapparini L; Di Bella D; Taroni F; Mariotti C
Brain; 2014 Jul; 137(Pt 7):1907-20. PubMed ID: 24833714
[TBL] [Abstract][Full Text] [Related]
8. Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes.
Li YS; Mao CY; Shi CH; Song B; Wu J; Qin J; Ji Y; Niu HX; Luo HY; Shang DD; Sun SL; Xu YM
J Clin Neurosci; 2015 Jul; 22(7):1150-4. PubMed ID: 26003865
[TBL] [Abstract][Full Text] [Related]
9. The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A; Kellner M; Jordan C; Rosengarten H; Mo A; Zhang B; Strelko O; Neuser S; Davis MY; Yoshikura N; Futamura N; Takeuchi T; Nabatame S; Ishiura H; Tsuji S; Aldeen HS; Cali E; Rocca C; Houlden H; Efthymiou S; Assmann B; Yoon G; Trombetta BA; Kivisäkk P; Eichler F; Nan H; Takiyama Y; Tessa A; Santorelli FM; Sahin M; Blackstone C; Yang E; Schüle R; Ebrahimi-Fakhari D
Brain; 2023 May; 146(5):2003-2015. PubMed ID: 36315648
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.
Shetty A; Gan-Or Z; Ashtiani S; Ruskey JA; van de Warrenburg B; Wassenberg T; Kamsteeg EJ; Rouleau GA; Suchowersky O
Eur J Med Genet; 2019 Dec; 62(12):103605. PubMed ID: 30572172
[TBL] [Abstract][Full Text] [Related]
13. The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L; Melo C; Silva MC; Coutinho P
Neuroepidemiology; 2014; 42(3):174-83. PubMed ID: 24603320
[TBL] [Abstract][Full Text] [Related]
14. Clinical features of hereditary spastic paraplegia with thin corpus callosum: report of 5 Chinese cases.
Tang BS; Chen X; Zhao GH; Shen L; Yan XX; Jiang H; Luo W
Chin Med J (Engl); 2004 Jul; 117(7):1002-5. PubMed ID: 15265372
[TBL] [Abstract][Full Text] [Related]
15. Novel insights into the genetic profile of hereditary spastic paraplegia in India.
Narendiran S; Debnath M; Shivaram S; Kannan R; Sharma S; Christopher R; Seshagiri DV; Jain S; Purushottam M; Mangalore S; Bharath RD; Bindu PS; Sinha S; Taly AB; Nagappa M
J Neurogenet; 2022 Mar; 36(1):21-31. PubMed ID: 35499206
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients.
Divya KP; Cherian A; Dhing HK; Kumar S; Thomas B; Faruq M
Acta Neurol Belg; 2024 Apr; 124(2):475-484. PubMed ID: 37898963
[TBL] [Abstract][Full Text] [Related]
18. Neuroimaging patterns in paediatric onset hereditary spastic paraplegias.
Dosi C; Pasquariello R; Ticci C; Astrea G; Trovato R; Rubegni A; Tessa A; Cioni G; Santorelli FM; Battini R
J Neurol Sci; 2021 Jun; 425():117441. PubMed ID: 33866115
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset.
Brockmann K; Simpson MA; Faber A; Bönnemann C; Crosby AH; Gärtner J
Neuropediatrics; 2005 Aug; 36(4):274-8. PubMed ID: 16138254
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
