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 *

180 related articles for article (PubMed ID: 25028179)

  • 1. Analysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathies.
    Tey S; Ahmad-Annuar A; Drew AP; Shahrizaila N; Nicholson GA; Kennerson ML
    Neurogenetics; 2014 Oct; 15(4):229-35. PubMed ID: 25028179
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age.
    Eschbach J; Sinniger J; Bouitbir J; Fergani A; Schlagowski AI; Zoll J; Geny B; René F; Larmet Y; Marion V; Baloh RH; Harms MB; Shy ME; Messadeq N; Weydt P; Loeffler JP; Ludolph AC; Dupuis L
    Neurobiol Dis; 2013 Oct; 58():220-30. PubMed ID: 23742762
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies.
    Tey S; Ahmad-Annuar A; Drew AP; Shahrizaila N; Nicholson GA; Kennerson ML
    Clin Genet; 2016 Aug; 90(2):127-33. PubMed ID: 26662454
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Dync1h1 Mutation Causes Proprioceptive Sensory Neuron Loss and Impaired Retrograde Axonal Transport of Dorsal Root Ganglion Neurons.
    Zhao J; Wang Y; Xu H; Fu Y; Qian T; Bo D; Lu YX; Xiong Y; Wan J; Zhang X; Dong Q; Chen XJ
    CNS Neurosci Ther; 2016 Jul; 22(7):593-601. PubMed ID: 27080913
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Neurodegenerative mutation in cytoplasmic dynein alters its organization and dynein-dynactin and dynein-kinesin interactions.
    Deng W; Garrett C; Dombert B; Soura V; Banks G; Fisher EM; van der Brug MP; Hafezparast M
    J Biol Chem; 2010 Dec; 285(51):39922-34. PubMed ID: 20889981
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
    Strickland AV; Schabhüttl M; Offenbacher H; Synofzik M; Hauser NS; Brunner-Krainz M; Gruber-Sedlmayr U; Moore SA; Windhager R; Bender B; Harms M; Klebe S; Young P; Kennerson M; Garcia AS; Gonzalez MA; Züchner S; Schule R; Shy ME; Auer-Grumbach M
    J Neurol; 2015 Sep; 262(9):2124-34. PubMed ID: 26100331
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ
    Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.
    Peeters K; Bervoets S; Chamova T; Litvinenko I; De Vriendt E; Bichev S; Kancheva D; Mitev V; Kennerson M; Timmerman V; De Jonghe P; Tournev I; MacMillan J; Jordanova A
    Hum Mutat; 2015 Mar; 36(3):287-91. PubMed ID: 25512093
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
    Willemsen MH; Vissers LE; Willemsen MA; van Bon BW; Kroes T; de Ligt J; de Vries BB; Schoots J; Lugtenberg D; Hamel BC; van Bokhoven H; Brunner HG; Veltman JA; Kleefstra T
    J Med Genet; 2012 Mar; 49(3):179-83. PubMed ID: 22368300
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.
    Fiorillo C; Moro F; Yi J; Weil S; Brisca G; Astrea G; Severino M; Romano A; Battini R; Rossi A; Minetti C; Bruno C; Santorelli FM; Vallee R
    Hum Mutat; 2014 Mar; 35(3):298-302. PubMed ID: 24307404
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Cytoplasmic dynein heavy chain: the servant of many masters.
    Schiavo G; Greensmith L; Hafezparast M; Fisher EM
    Trends Neurosci; 2013 Nov; 36(11):641-51. PubMed ID: 24035135
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Review: Cytoplasmic dynein motors in photoreceptors.
    Dahl TM; Baehr W
    Mol Vis; 2021; 27():506-517. PubMed ID: 34526758
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Proprioceptive sensory neuropathy in mice with a mutation in the cytoplasmic Dynein heavy chain 1 gene.
    Chen XJ; Levedakou EN; Millen KJ; Wollmann RL; Soliven B; Popko B
    J Neurosci; 2007 Dec; 27(52):14515-24. PubMed ID: 18160659
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in cytoplasmic dynein and its regulators cause malformations of cortical development and neurodegenerative diseases.
    Lipka J; Kuijpers M; Jaworski J; Hoogenraad CC
    Biochem Soc Trans; 2013 Dec; 41(6):1605-12. PubMed ID: 24256262
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.
    Becker LL; Dafsari HS; Schallner J; Abdin D; Seifert M; Petit F; Smol T; Bok L; Rodan L; Krapels I; Spranger S; Weschke B; Johnson K; Straub V; Kaindl AM; Di Donato N; von der Hagen M; Cirak S
    J Hum Genet; 2020 Nov; 65(11):1003-1017. PubMed ID: 32788638
    [TBL] [Abstract][Full Text] [Related]  

  • 16. DYNC1H1 mutation alters transport kinetics and ERK1/2-cFos signalling in a mouse model of distal spinal muscular atrophy.
    Garrett CA; Barri M; Kuta A; Soura V; Deng W; Fisher EM; Schiavo G; Hafezparast M
    Brain; 2014 Jul; 137(Pt 7):1883-93. PubMed ID: 24755273
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
    Harms MB; Ori-McKenney KM; Scoto M; Tuck EP; Bell S; Ma D; Masi S; Allred P; Al-Lozi M; Reilly MM; Miller LJ; Jani-Acsadi A; Pestronk A; Shy ME; Muntoni F; Vallee RB; Baloh RH
    Neurology; 2012 May; 78(22):1714-20. PubMed ID: 22459677
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Two cases of DYNC1H1 mutations with intractable epilepsy.
    Matsumoto A; Kojima K; Miya F; Miyauchi A; Watanabe K; Iwamoto S; Kawai K; Kato M; Takahashi Y; Yamagata T
    Brain Dev; 2021 Sep; 43(8):857-862. PubMed ID: 34092403
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.
    Weedon MN; Hastings R; Caswell R; Xie W; Paszkiewicz K; Antoniadi T; Williams M; King C; Greenhalgh L; Newbury-Ecob R; Ellard S
    Am J Hum Genet; 2011 Aug; 89(2):308-12. PubMed ID: 21820100
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
    Laššuthová P; Šafka Brožková D; Krůtová M; Neupauerová J; Haberlová J; Mazanec R; Dřímal P; Seeman P
    Orphanet J Rare Dis; 2016 Aug; 11(1):118. PubMed ID: 27549087
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.