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 *

148 related articles for article (PubMed ID: 38396346)

  • 1. Periodic Alternating Nystagmus, Ataxia, and Spasticity: A Unique Presentation of Spastic Paraplegia 7-Related Hereditary Spastic Paraplegia.
    Hickman JL; Lafreniere M; Bennett JL; Forbes E; Feuerstein J
    Mov Disord Clin Pract; 2024 Apr; 11(4):441-443. PubMed ID: 38396346
    [No Abstract]   [Full Text] [Related]  

  • 2. Patterns and modulations of Pendular nystagmus in a family with hereditary spastic paraplegia.
    Oh EH; Lee JH; Shin JH; Kim HS; Kim JS; Kim HJ; Choi SY; Choi KD; Zee DS; Choi JH
    J Neurol Sci; 2017 Dec; 383():169-173. PubMed ID: 29246608
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
    Klebe S; Depienne C; Gerber S; Challe G; Anheim M; Charles P; Fedirko E; Lejeune E; Cottineau J; Brusco A; Dollfus H; Chinnery PF; Mancini C; Ferrer X; Sole G; Destée A; Mayer JM; Fontaine B; de Seze J; Clanet M; Ollagnon E; Busson P; Cazeneuve C; Stevanin G; Kaplan J; Rozet JM; Brice A; Durr A
    Brain; 2012 Oct; 135(Pt 10):2980-93. PubMed ID: 23065789
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia.
    Seo Y; Lim HT; Lee BJ; Han J
    Am J Med Genet A; 2023 Feb; 191(2):582-585. PubMed ID: 36367250
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports.
    Wang S; Wang Y; Wu Y; Zhang J; Zhang W; Li C; Song X
    BMC Neurol; 2022 May; 22(1):200. PubMed ID: 35637455
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study.
    Ortega Suero G; Abenza Abildúa MJ; Serrano Munuera C; Rouco Axpe I; Arpa Gutiérrez FJ; Adarmes Gómez AD; Rodríguez de Rivera FJ; Quintans Castro B; Posada Rodríguez I; Vadillo Bermejo A; Domingo Santos Á; Blanco Vicente E; Infante Ceberio I; Pardo Fernández J; Costa Arpín E; Painous Martí C; Muñoz García JE; Mir Rivera P; Montón Álvarez F; Bataller Alberola L; Gascón Bayarri J; Casasnovas Pons C; Vélez Santamaría V; López de Munain A; Fernández-Eulate G; Gazulla Abío J; Sanz Gallego I; Rojas Bartolomé L; Ayo Martín Ó; Segura Martín T; González Mingot C; Baraldés Rovira M; Sivera Mascaró R; Cubo Delgado E; Echavarría Íñiguez A; Vázquez Sánchez F; Bártulos Iglesias M; Casadevall Codina MT; Martínez Fernández EM; Labandeira Guerra C; Alemany Perna B; Carvajal Hernández A; Fernández Moreno C; Palacín Larroy M; Caballol Pons N; Ávila Rivera A; Navacerrada Barrero FJ; Lobato Rodríguez R; Sobrido Gómez MJ
    Neurologia (Engl Ed); 2023; 38(6):379-386. PubMed ID: 37120112
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
    van Gassen KL; van der Heijden CD; de Bot ST; den Dunnen WF; van den Berg LH; Verschuuren-Bemelmans CC; Kremer HP; Veldink JH; Kamsteeg EJ; Scheffer H; van de Warrenburg BP
    Brain; 2012 Oct; 135(Pt 10):2994-3004. PubMed ID: 22964162
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia.
    de Freitas JL; Rezende Filho FM; Sallum JMF; França MC; Pedroso JL; Barsottini OGP
    J Neurol Sci; 2020 Feb; 409():116620. PubMed ID: 31865189
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec.
    Haj Salem I; Beaudin M; Stumpf M; Estiar MA; Côté PO; Brunet F; Gamache PL; Rouleau GA; Mourabit-Amari K; Gan-Or Z; Dupré N
    Can J Neurol Sci; 2021 Sep; 48(5):655-665. PubMed ID: 33397523
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.
    Lai LL; Chen YJ; Li YL; Lin XH; Wang MW; Dong EL; Wang N; Chen WJ; Lin X
    Ann Clin Transl Neurol; 2020 Oct; 7(10):1862-1869. PubMed ID: 32860341
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
    Zhang X; Zhang L; Wu Y; Li G; Chen S; Xia Y; Li H
    BMC Neurol; 2018 Nov; 18(1):196. PubMed ID: 30497413
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.
    Erichsen AK; Koht J; Stray-Pedersen A; Abdelnoor M; Tallaksen CM
    Brain; 2009 Jun; 132(Pt 6):1577-88. PubMed ID: 19339254
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.
    Baviera-Muñoz R; Campins-Romeu M; Carretero-Vilarroig L; Sastre-Bataller I; Martínez-Torres I; Vázquez-Costa JF; Muelas N; Sevilla T; Vílchez JJ; Aller E; Jaijo T; Bataller L; Espinós C
    J Neurol Sci; 2021 Oct; 429():118062. PubMed ID: 34500365
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.