These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

236 related articles for article (PubMed ID: 30606727)

  • 1. "Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia.
    Pascual B; de Bot ST; Daniels MR; França MC; Toro C; Riverol M; Hedera P; Bassi MT; Bresolin N; van de Warrenburg BP; Kremer B; Nicolai J; Charles P; Xu J; Singh S; Patronas NJ; Fung SH; Gregory MD; Masdeu JC
    AJNR Am J Neuroradiol; 2019 Jan; 40(1):199-203. PubMed ID: 30606727
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hereditary spastic paraplegia: An "ears of the lynx" magnetic resonance imaging sign in a patient with recessive genetic type 11.
    Romagnoli ER; Akly MP; Miquelini LA; Funes JA; Besada CH
    Neuroradiol J; 2021 Feb; 34(1):42-44. PubMed ID: 32885726
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Forceps minor region signal abnormality "ears of the lynx": an early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15.
    Riverol M; Samaranch L; Pascual B; Pastor P; Irigoyen J; Pastor MA; de Castro P; Masdeu JC
    J Neuroimaging; 2009 Jan; 19(1):52-60. PubMed ID: 19040626
    [TBL] [Abstract][Full Text] [Related]  

  • 4. "Ears of the lynx" sign and thin corpus callosum on MRI in heterozygous SPG11 mutation carriers.
    Rattay TW; Schöls L; Zeltner L; Rohrschneider WK; Ernemann U; Lindig T
    J Neurol; 2022 Nov; 269(11):6148-6151. PubMed ID: 35614164
    [No Abstract]   [Full Text] [Related]  

  • 5. Identification of a Mutation in SPG11 in an Iranian Patient with Spastic Paraplegia and Ears of the Lynx Sign.
    Sayad A; Akbari MT; Hesami O; Ghafouri-Fard S; Taheri M
    J Mol Neurosci; 2020 Jun; 70(6):959-961. PubMed ID: 32040826
    [TBL] [Abstract][Full Text] [Related]  

  • 6. SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.
    Orlén H; Melberg A; Raininko R; Kumlien E; Entesarian M; Söderberg P; Påhlman M; Darin N; Kyllerman M; Holmberg E; Engler H; Eriksson U; Dahl N
    Am J Med Genet B Neuropsychiatr Genet; 2009 Oct; 150B(7):984-92. PubMed ID: 19194956
    [TBL] [Abstract][Full Text] [Related]  

  • 7. ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis.
    Vantaggiato C; Panzeri E; Castelli M; Citterio A; Arnoldi A; Santorelli FM; Liguori R; Scarlato M; Musumeci O; Toscano A; Clementi E; Bassi MT
    Autophagy; 2019 Jan; 15(1):34-57. PubMed ID: 30081747
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.
    Goizet C; Boukhris A; Maltete D; Guyant-Maréchal L; Truchetto J; Mundwiller E; Hanein S; Jonveaux P; Roelens F; Loureiro J; Godet E; Forlani S; Melki J; Auer-Grumbach M; Fernandez JC; Martin-Hardy P; Sibon I; Sole G; Orignac I; Mhiri C; Coutinho P; Durr A; Brice A; Stevanin G
    Neurology; 2009 Oct; 73(14):1111-9. PubMed ID: 19805727
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.
    Schüle R; Schlipf N; Synofzik M; Klebe S; Klimpe S; Hehr U; Winner B; Lindig T; Dotzer A; Riess O; Winkler J; Schöls L; Bauer P
    J Neurol Neurosurg Psychiatry; 2009 Dec; 80(12):1402-4. PubMed ID: 19917823
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia.
    Fraidakis MJ; Brunetti M; Blackstone C; Filippi M; Chiò A
    Neurodegener Dis; 2016; 16(5-6):373-81. PubMed ID: 27318863
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification of novel SPG11 mutations in a cohort of Chinese families with hereditary spastic paraplegia.
    Du J; Hu YC; Tang BS; Jiang H; Shen L
    Int J Neurosci; 2018 Feb; 128(2):146-150. PubMed ID: 28933964
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.
    Guidubaldi A; Piano C; Santorelli FM; Silvestri G; Petracca M; Tessa A; Bentivoglio AR
    Mov Disord; 2011 Feb; 26(3):553-6. PubMed ID: 21381113
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Lighthouse in the open sea of spastic ataxia; what are the features that should not be missed in SPG11?
    Park S; Kim AR; Kim NKD; Park WY; Kim JS; Oh E
    Parkinsonism Relat Disord; 2021 Oct; 91():181-183. PubMed ID: 33994096
    [No Abstract]   [Full Text] [Related]  

  • 16. An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions.
    Hayakawa M; Matsubara T; Mochizuki Y; Takeuchi C; Minamitani M; Imai M; Kosaki K; Arai T; Murayama S
    BMC Neurol; 2022 Jan; 22(1):2. PubMed ID: 34979968
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Pattern reversal visual evoked potentials (prVEPs) in autosomal recessive hereditary spastic paraplegia with thin corpus callosum (ARHSPTCC) patients with SPG 11 mutations in Saudi Arabia, cross section hospital base study.
    Alfaidi N; Sobahy T; Ali Q; Al Said Y; Karim G; Khan H; Kurdi K; Cupler E
    J Neurol Sci; 2022 Mar; 434():120144. PubMed ID: 35074613
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515*, in the
    Daida K; Nishioka Y; Li Y; Yoshino H; Funayama M; Hattori N; Nishioka K
    eNeurologicalSci; 2022 Mar; 26():100391. PubMed ID: 35036589
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.
    de Bot ST; Burggraaff RC; Herkert JC; Schelhaas HJ; Post B; Diekstra A; van Vliet RO; van der Knaap MS; Kamsteeg EJ; Scheffer H; van de Warrenburg BP; Verschuuren-Bemelmans CC; Kremer HP
    Eur J Hum Genet; 2013 Nov; 21(11):1312-5. PubMed ID: 23443022
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Investigating ZFYVE26 mutations in a Taiwanese cohort with hereditary spastic paraplegia.
    Hsu SL; Lu YJ; Tsai YS; Chao HC; Fuh JL; Liao YC; Lee YC
    J Formos Med Assoc; 2022 Jan; 121(1 Pt 1):126-133. PubMed ID: 33637369
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.