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 *

168 related articles for article (PubMed ID: 33255407)

  • 1. Early Onset Ataxia with Comorbid Dystonia: Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology.
    Sival DA; Garofalo M; Brandsma R; Bokkers TA; van den Berg M; de Koning TJ; Tijssen MAJ; Verbeek DS
    Diagnostics (Basel); 2020 Nov; 10(12):. PubMed ID: 33255407
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The pathogenetic basis for a disease continuum in early- and late-onset ataxia-dystonia supports a unified genetic diagnostic approach.
    Garofalo M; Vansenne F; Verbeek DS; Sival DA
    Eur J Paediatr Neurol; 2023 Mar; 43():44-51. PubMed ID: 36905829
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Developmental neurobiology of cerebellar and Basal Ganglia connections.
    Sival DA; Noort SAMV; Tijssen MAJ; de Koning TJ; Verbeek DS
    Eur J Paediatr Neurol; 2022 Jan; 36():123-129. PubMed ID: 34954622
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cross-disease analysis of depression, ataxia and dystonia highlights a role for synaptic plasticity and the cerebellum in the pathophysiology of these comorbid diseases.
    Huang M; de Koning TJ; Tijssen MAJ; Verbeek DS
    Biochim Biophys Acta Mol Basis Dis; 2021 Jan; 1867(1):165976. PubMed ID: 33011198
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Reliability and discriminant validity of ataxia rating scales in early onset ataxia.
    Brandsma R; Lawerman TF; Kuiper MJ; Lunsing RJ; Burger H; Sival DA
    Dev Med Child Neurol; 2017 Apr; 59(4):427-432. PubMed ID: 27767206
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.
    Nibbeling EA; Delnooz CC; de Koning TJ; Sinke RJ; Jinnah HA; Tijssen MA; Verbeek DS
    Neurosci Biobehav Rev; 2017 Apr; 75():22-39. PubMed ID: 28143763
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Paediatric motor phenotypes in early-onset ataxia, developmental coordination disorder, and central hypotonia.
    Lawerman TF; Brandsma R; Maurits NM; Martinez-Manzanera O; Verschuuren-Bemelmans CC; Lunsing RJ; Brouwer OF; Kremer HP; Sival DA
    Dev Med Child Neurol; 2020 Jan; 62(1):75-82. PubMed ID: 31529709
    [TBL] [Abstract][Full Text] [Related]  

  • 8. NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening.
    Synofzik M; Harmuth F; Stampfer M; Müller Vom Hagen J; Schöls L; Bauer P
    J Neurol; 2015 Nov; 262(11):2557-63. PubMed ID: 26338816
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Reliability of phenotypic early-onset ataxia assessment: a pilot study.
    Lawerman TF; Brandsma R; van Geffen JT; Lunsing RJ; Burger H; Tijssen MA; de Vries JJ; de Koning TJ; Sival DA
    Dev Med Child Neurol; 2016 Jan; 58(1):70-6. PubMed ID: 25995073
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Dystonia as a network disorder: a concept in evolution.
    Schirinzi T; Sciamanna G; Mercuri NB; Pisani A
    Curr Opin Neurol; 2018 Aug; 31(4):498-503. PubMed ID: 29746398
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Connectome-Wide Phenotypical and Genotypical Associations in Focal Dystonia.
    Fuertinger S; Simonyan K
    J Neurosci; 2017 Aug; 37(31):7438-7449. PubMed ID: 28674168
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Slowly progressive cerebellar ataxia and cervical dystonia: clinical presentation of a new form of spinocerebellar ataxia?
    Kuoppamäki M; Giunti P; Quinn N; Wood NW; Bhatia KP
    Mov Disord; 2003 Feb; 18(2):200-6. PubMed ID: 12539216
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identifying Niemann-Pick type C in early-onset ataxia: two quick clinical screening tools.
    Synofzik M; Fleszar Z; Schöls L; Just J; Bauer P; Torres Martin JV; Kolb S
    J Neurol; 2016 Oct; 263(10):1911-8. PubMed ID: 27314965
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia.
    Le Ber I; Clot F; Vercueil L; Camuzat A; Viémont M; Benamar N; De Liège P; Ouvrard-Hernandez AM; Pollak P; Stevanin G; Brice A; Dürr A
    Neurology; 2006 Nov; 67(10):1769-73. PubMed ID: 17130408
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.
    Sweney MT; Newcomb TM; Swoboda KJ
    Pediatr Neurol; 2015 Jan; 52(1):56-64. PubMed ID: 25447930
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Low Prevalence and Clinical Effect of Vascular Risk Factors in Early-Onset Alzheimer's Disease.
    Chen Y; Sillaire AR; Dallongeville J; Skrobala E; Wallon D; Dubois B; Hannequin D; Pasquier F;
    J Alzheimers Dis; 2017; 60(3):1045-1054. PubMed ID: 28984595
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Construct Validity and Reliability of the SARA Gait and Posture Sub-scale in Early Onset Ataxia.
    Lawerman TF; Brandsma R; Verbeek RJ; van der Hoeven JH; Lunsing RJ; Kremer HPH; Sival DA
    Front Hum Neurosci; 2017; 11():605. PubMed ID: 29326569
    [No Abstract]   [Full Text] [Related]  

  • 18. Heterozygous Gnal Mice Are a Novel Animal Model with Which to Study Dystonia Pathophysiology.
    Pelosi A; Menardy F; Popa D; Girault JA; Hervé D
    J Neurosci; 2017 Jun; 37(26):6253-6267. PubMed ID: 28546310
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Progressive dystonia masking ataxia in ataxia-telangiectasia.
    Bodensteiner JB; Goldblum RM; Goldman AS
    Arch Neurol; 1980 Jul; 37(7):464-5. PubMed ID: 7387499
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Central pontine myelinolysis with cerebellar ataxia and dystonia].
    Gille M; Jacquemin C; Kiame G; Delbecq J; Guilmot D; Depré A
    Rev Neurol (Paris); 1993; 149(5):344-6. PubMed ID: 8272731
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.