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 *

488 related articles for article (PubMed ID: 28195350)

  • 1. Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.
    Synofzik M; Schüle R
    Mov Disord; 2017 Mar; 32(3):332-345. PubMed ID: 28195350
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Ataxias and hereditary spastic paraplegias].
    Schüle R; Schöls L
    Nervenarzt; 2017 Jul; 88(7):720-727. PubMed ID: 28600743
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Ataxia and spastic paraplegia in mitochondrial disease.
    Synofzik M; Rugarli E; Reid E; Schüle R
    Handb Clin Neurol; 2023; 194():79-98. PubMed ID: 36813322
    [TBL] [Abstract][Full Text] [Related]  

  • 5.
    Lambe J; Monaghan B; Munteanu T; Redmond J
    Pract Neurol; 2018 Oct; 18(5):369-372. PubMed ID: 29678961
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A Diagnostic Approach to Spastic ataxia Syndromes.
    Pedroso JL; Vale TC; França Junior MC; Kauffman MA; Teive H; Barsottini OGP; Munhoz RP
    Cerebellum; 2022 Dec; 21(6):1073-1084. PubMed ID: 34782953
    [TBL] [Abstract][Full Text] [Related]  

  • 7. SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group.
    Pedroso JL; de Souza PV; Pinto WB; Braga-Neto P; Albuquerque MV; Saraiva-Pereira ML; Jardim LB; Barsottini OG
    Parkinsonism Relat Disord; 2015 Oct; 21(10):1243-6. PubMed ID: 26231471
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genetics and pathogenesis of inherited ataxias and spastic paraplegias.
    Espinós C; Palau F
    Adv Exp Med Biol; 2009; 652():263-96. PubMed ID: 20225032
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.
    Doi H; Ohba C; Tsurusaki Y; Miyatake S; Miyake N; Saitsu H; Kawamoto Y; Yoshida T; Koyano S; Suzuki Y; Kuroiwa Y; Tanaka F; Matsumoto N
    Intern Med; 2013; 52(14):1629-33. PubMed ID: 23857099
    [TBL] [Abstract][Full Text] [Related]  

  • 11. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
    Synofzik M; Gonzalez MA; Lourenco CM; Coutelier M; Haack TB; Rebelo A; Hannequin D; Strom TM; Prokisch H; Kernstock C; Durr A; Schöls L; Lima-Martínez MM; Farooq A; Schüle R; Stevanin G; Marques W; Züchner S
    Brain; 2014 Jan; 137(Pt 1):69-77. PubMed ID: 24355708
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
    Thal DR; Züchner S; Gierer S; Schulte C; Schöls L; Schüle R; Synofzik M
    Int J Mol Sci; 2015 Oct; 16(10):25050-66. PubMed ID: 26506339
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.
    Gatti M; Magri S; Di Bella D; Sarto E; Taroni F; Mariotti C; Nanetti L
    Neurol Sci; 2021 Nov; 42(11):4741-4745. PubMed ID: 34251556
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
    Elert-Dobkowska E; Stepniak I; Krysa W; Ziora-Jakutowicz K; Rakowicz M; Sobanska A; Pilch J; Antczak-Marach D; Zaremba J; Sulek A
    Neurogenetics; 2019 Mar; 20(1):27-38. PubMed ID: 30778698
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Spastic ataxias.
    Bereznyakova O; Dupré N
    Handb Clin Neurol; 2018; 155():191-203. PubMed ID: 29891058
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A founder mutation p.H701P identified as a major cause of SPG7 in Norway.
    Rydning SL; Wedding IM; Koht J; Chawla M; Øye AM; Sheng Y; Vigeland MD; Selmer KK; Tallaksen CM
    Eur J Neurol; 2016 Apr; 23(4):763-71. PubMed ID: 26756429
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Hereditary ataxias and paraparesias: clinical and genetic update.
    Parodi L; Coarelli G; Stevanin G; Brice A; Durr A
    Curr Opin Neurol; 2018 Aug; 31(4):462-471. PubMed ID: 29847346
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Spastic paraplegia, ataxia, mental retardation (SPAR): a novel genetic disorder.
    Hedera P; Rainier S; Zhao XP; Schalling M; Lindblad K; Yuan QP; Ikeuchi T; Trobe J; Wald JJ; Eldevik OP; Kluin K; Fink JK
    Neurology; 2002 Feb; 58(3):411-6. PubMed ID: 11839840
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
    Choquet K; Tétreault M; Yang S; La Piana R; Dicaire MJ; Vanstone MR; Mathieu J; Bouchard JP; Rioux MF; Rouleau GA; ; Boycott KM; Majewski J; Brais B
    Eur J Hum Genet; 2016 Jul; 24(7):1016-21. PubMed ID: 26626314
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 25.