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 *

202 related articles for article (PubMed ID: 37301203)

  • 1. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
    Cunha P; Petit E; Coutelier M; Coarelli G; Mariotti C; Faber J; Van Gaalen J; Damasio J; Fleszar Z; Tosi M; Rocca C; De Michele G; Minnerop M; Ewenczyk C; Santorelli FM; Heinzmann A; Bird T; Amprosi M; Indelicato E; Benussi A; Charles P; Stendel C; Romano S; Scarlato M; Le Ber I; Bassi MT; Serrano M; Schmitz-Hübsch T; Doss S; Van Velzen GAJ; Thomas Q; Trabacca A; Ortigoza-Escobar JD; D'Arrigo S; Timmann D; Pantaleoni C; Martinuzzi A; Besse-Pinot E; Marsili L; Cioffi E; Nicita F; Giorgetti A; Moroni I; Romaniello R; Casali C; Ponger P; Casari G; De Bot ST; Ristori G; Blumkin L; Borroni B; Goizet C; Marelli C; Boesch S; Anheim M; Filla A; Houlden H; Bertini E; Klopstock T; Synofzik M; Riant F; Zanni G; Magri S; Di Bella D; Nanetti L; Sequeiros J; Oliveira J; Van de Warrenburg B; Schöls L; Taroni F; Brice A; Durr A
    Am J Hum Genet; 2023 Jul; 110(7):1098-1109. PubMed ID: 37301203
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
    Coutelier M; Coarelli G; Monin ML; Konop J; Davoine CS; Tesson C; Valter R; Anheim M; Behin A; Castelnovo G; Charles P; David A; Ewenczyk C; Fradin M; Goizet C; Hannequin D; Labauge P; Riant F; Sarda P; Sznajer Y; Tison F; Ullmann U; Van Maldergem L; Mochel F; Brice A; Stevanin G; Durr A;
    Brain; 2017 Jun; 140(6):1579-1594. PubMed ID: 28444220
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.
    Accogli A; St-Onge J; Addour-Boudrahem N; Lafond-Lapalme J; Laporte AD; Rouleau GA; Rivière JB; Srour M
    J Child Neurol; 2020 Feb; 35(2):106-110. PubMed ID: 31617442
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
    Roux T; Barbier M; Papin M; Davoine CS; Sayah S; Coarelli G; Charles P; Marelli C; Parodi L; Tranchant C; Goizet C; Klebe S; Lohmann E; Van Maldergem L; van Broeckhoven C; Coutelier M; Tesson C; Stevanin G; Duyckaerts C; Brice A; Durr A;
    Genet Med; 2020 Nov; 22(11):1851-1862. PubMed ID: 32713943
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia.
    Nanetti L; Magri S; Fichera M; Castaldo A; Nigri A; Pinardi C; Mongelli A; Sarro L; Pareyson D; Grisoli M; Gellera C; Di Bella D; Mariotti C; Taroni F
    Mov Disord; 2023 Apr; 38(4):665-675. PubMed ID: 36799493
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features.
    Synofzik M; Beetz C; Bauer C; Bonin M; Sanchez-Ferrero E; Schmitz-Hübsch T; Wüllner U; Nägele T; Riess O; Schöls L; Bauer P
    J Med Genet; 2011 Jun; 48(6):407-12. PubMed ID: 21367767
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
    Durr A
    Lancet Neurol; 2010 Sep; 9(9):885-94. PubMed ID: 20723845
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.
    Lieto M; Riso V; Galatolo D; De Michele G; Rossi S; Barghigiani M; Cocozza S; Pontillo G; Trovato R; Saccà F; Salvatore E; Tessa A; Filla A; Santorelli FM; De Michele G; Silvestri G
    Eur J Neurol; 2020 Mar; 27(3):498-505. PubMed ID: 31571321
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
    Barbier M; Davoine CS; Petit E; Porché M; Guillot-Noel L; Sayah S; Fauret AL; Neau JP; Guyant-Maréchal L; Deffond D; Tranchant C; Goizet C; Coarelli G; Castrioto A; Klebe S; Ewenczyk C; Heinzmann A; Charles P; Tchikviladzé M; Van Broeckhoven C; Brice A; Durr A
    Genet Med; 2023 Feb; 25(2):100327. PubMed ID: 36422518
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia.
    Chiang HL; Fuh JL; Tsai YS; Soong BW; Liao YC; Lee YC
    J Neurol Sci; 2021 Sep; 428():117600. PubMed ID: 34333379
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Retrocollis as the cardinal feature in a de novo ITRP1 variant.
    Zachou A; Palaiologou D; Kanavakis E; Anagnostou E
    Brain Dev; 2022 May; 44(5):347-352. PubMed ID: 35148930
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review.
    Liu X; Wang L; Chen J; Kang C; Li J
    Medicine (Baltimore); 2021 Dec; 100(50):e28008. PubMed ID: 34918652
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia.
    Nicita F; Nardella M; Bellacchio E; Alfieri P; Terrone G; Piccini G; Graziola F; Pignata C; Capuano A; Bertini E; Zanni G
    Clin Genet; 2019 Aug; 96(2):169-175. PubMed ID: 31066025
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2.
    Tunc S; Dulovic-Mahlow M; Baumann H; Baaske MK; Jahn M; Junker J; Münchau A; Brüggemann N; Lohmann K
    Cerebellum; 2019 Aug; 18(4):817-822. PubMed ID: 31111429
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
    Zambonin JL; Bellomo A; Ben-Pazi H; Everman DB; Frazer LM; Geraghty MT; Harper AD; Jones JR; Kamien B; Kernohan K; Koenig MK; Lines M; Palmer EE; Richardson R; Segel R; Tarnopolsky M; Vanstone JR; Gibbons M; Collins A; Fogel BL; ; Dudding-Byth T; Boycott KM
    Orphanet J Rare Dis; 2017 Jun; 12(1):121. PubMed ID: 28659154
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5.
    Bian X; Wang S; Jin S; Xu S; Zhang H; Wang D; Shang W; Wang P
    Neurol Sci; 2021 Dec; 42(12):5195-5203. PubMed ID: 33797620
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The complexities of CACNA1A in clinical neurogenetics.
    Hommersom MP; van Prooije TH; Pennings M; Schouten MI; van Bokhoven H; Kamsteeg EJ; van de Warrenburg BPC
    J Neurol; 2022 Jun; 269(6):3094-3108. PubMed ID: 34806130
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.
    Löbbe AM; Kang JS; Hilker R; Hackstein H; Müller U; Nolte D
    J Mol Neurosci; 2014 Apr; 52(4):493-6. PubMed ID: 24293060
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Late-onset hereditary ataxias with dementia.
    Linares AJ; Fogel BL
    Curr Opin Neurol; 2023 Aug; 36(4):324-334. PubMed ID: 37382141
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Expanding the clinical and genetic heterogeneity of SPAX5.
    Dosi C; Galatolo D; Rubegni A; Doccini S; Pasquariello R; Nesti C; Sicca F; Barghigiani M; Battini R; Tessa A; Santorelli FM
    Ann Clin Transl Neurol; 2020 Apr; 7(4):595-601. PubMed ID: 32237276
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.