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 *

244 related articles for article (PubMed ID: 34296356)

  • 21. 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]  

  • 22. 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]  

  • 23. A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.
    Tewari VV; Mehta R; Sreedhar CM; Tewari K; Mohammad A; Gupta N; Gulati S; Kabra M
    BMC Pediatr; 2018 Apr; 18(1):126. PubMed ID: 29618326
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort.
    Bogdanova-Mihaylova P; Chen H; Plapp HM; Gorman C; Alexander MD; McHugh JC; Moran S; Early A; Cassidy L; Lynch T; Murphy SM; Walsh RA
    J Neurol; 2021 Oct; 268(10):3897-3907. PubMed ID: 33774748
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
    Méreaux JL; Firanescu C; Coarelli G; Kvarnung M; Rodrigues R; Pegoraro E; Tazir M; Taithe F; Valter R; Huin V; Lidström K; Banneau G; Morais S; Parodi L; Coutelier M; Papin M; Svenningsson P; Azulay JP; Alonso I; Nilsson D; Brice A; Le Guern E; Press R; Vazza G; Loureiro JL; Goizet C; Durr A; Paucar M; Stevanin G
    Neurogenetics; 2021 Mar; 22(1):71-79. PubMed ID: 33486633
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. 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]  

  • 29. Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
    Seong E; Insolera R; Dulovic M; Kamsteeg EJ; Trinh J; Brüggemann N; Sandford E; Li S; Ozel AB; Li JZ; Jewett T; Kievit AJA; Münchau A; Shakkottai V; Klein C; Collins CA; Lohmann K; van de Warrenburg BP; Burmeister M
    Ann Neurol; 2018 Jun; 83(6):1075-1088. PubMed ID: 29604224
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.
    Yang H; Wu Z; Li X; Huang Y; Li J; He F; Feng L; Xiao B; Tang W
    Neurol Sci; 2023 Sep; 44(9):3363-3368. PubMed ID: 36988728
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations.
    Takanashi J; Osaka H; Saitsu H; Sasaki M; Mori H; Shibayama H; Tanaka M; Nomura Y; Terao Y; Inoue K; Matsumoto N; Barkovich AJ
    Brain Dev; 2014 Mar; 36(3):259-63. PubMed ID: 23643445
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia.
    Durand CM; Angelini C; Michaud V; Delleci C; Coupry I; Goizet C; Trimouille A
    BMC Neurol; 2022 Feb; 22(1):53. PubMed ID: 35151251
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation.
    Choquet K; Yang S; Moir RD; Forget D; Larivière R; Bouchard A; Poitras C; Sgarioto N; Dicaire MJ; Noohi F; Kennedy TE; Rochford J; Bernard G; Teichmann M; Coulombe B; Willis IM; Kleinman CL; Brais B
    Mol Brain; 2017 Apr; 10(1):13. PubMed ID: 28407788
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report.
    Wu S; Bai Z; Dong X; Yang D; Chen H; Hua J; Zhou L; Lv H
    BMC Pediatr; 2019 Aug; 19(1):289. PubMed ID: 31438894
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Identification of a Novel Missense Mutation of
    Musumeci A; Calì F; Scuderi C; Vinci M; Vitello GA; Musumeci SA; Chiavetta V; Federico C; Amore G; Saccone S; Di Rosa G; Nicotera AG
    Biomedicines; 2022 Sep; 10(9):. PubMed ID: 36140376
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
    Torella A; Ricca I; Piluso G; Galatolo D; De Michele G; Zanobio M; Trovato R; De Michele G; Zeuli R; Pane C; Cocozza S; Saccà F; Santorelli FM; Nigro V; Filla A
    J Neurol; 2023 Oct; 270(10):5057-5063. PubMed ID: 37418012
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.
    Ruan DD; Ruan XL; Wang RL; Lin XF; Zhang YP; Lin B; Li SJ; Wu M; Chen Q; Zhang JH; Cheng Q; Zhang YW; Lin F; Luo JW; Zheng Z; Li YF
    Sci Rep; 2024 Apr; 14(1):7638. PubMed ID: 38561452
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.