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 *

268 related articles for article (PubMed ID: 28635954)

  • 1. Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
    Storbeck M; Horsberg Eriksen B; Unger A; Hölker I; Aukrust I; Martínez-Carrera LA; Linke WA; Ferbert A; Heller R; Vorgerd M; Houge G; Wirth B
    Eur J Hum Genet; 2017 Sep; 25(9):1040-1048. PubMed ID: 28635954
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.
    Rossor AM; Oates EC; Salter HK; Liu Y; Murphy SM; Schule R; Gonzalez MA; Scoto M; Phadke R; Sewry CA; Houlden H; Jordanova A; Tournev I; Chamova T; Litvinenko I; Zuchner S; Herrmann DN; Blake J; Sowden JE; Acsadi G; Rodriguez ML; Menezes MP; Clarke NF; Auer Grumbach M; Bullock SL; Muntoni F; Reilly MM; North KN
    Brain; 2015 Feb; 138(Pt 2):293-310. PubMed ID: 25497877
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutation.
    Ueda Y; Suganuma T; Narumi-Kishimoto Y; Kaname T; Sato T
    Brain Dev; 2021 Jan; 43(1):135-139. PubMed ID: 32888736
    [TBL] [Abstract][Full Text] [Related]  

  • 4. In-frame de novo mutation in
    Koboldt DC; Kastury RD; Waldrop MA; Kelly BJ; Mosher TM; McLaughlin H; Corsmeier D; Slaughter JL; Flanigan KM; McBride KL; Mehta L; Wilson RK; White P
    Cold Spring Harb Mol Case Stud; 2018 Oct; 4(5):. PubMed ID: 30054298
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.
    Rudnik-Schöneborn S; Deden F; Eggermann K; Eggermann T; Wieczorek D; Sellhaus B; Yamoah A; Goswami A; Claeys KG; Weis J; Zerres K
    Muscle Nerve; 2016 Sep; 54(3):496-500. PubMed ID: 26998597
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy.
    Marchionni E; Agolini E; Mastromoro G; Guadagnolo D; Coppola G; Roggini M; Riminucci M; Novelli A; Giancotti A; Corsi A; Pizzuti A
    Am J Med Genet A; 2021 May; 185(5):1509-1514. PubMed ID: 33547725
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.
    Neveling K; Martinez-Carrera LA; Hölker I; Heister A; Verrips A; Hosseini-Barkooie SM; Gilissen C; Vermeer S; Pennings M; Meijer R; te Riele M; Frijns CJ; Suchowersky O; MacLaren L; Rudnik-Schöneborn S; Sinke RJ; Zerres K; Lowry RB; Lemmink HH; Garbes L; Veltman JA; Schelhaas HJ; Scheffer H; Wirth B
    Am J Hum Genet; 2013 Jun; 92(6):946-54. PubMed ID: 23664116
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Adult-onset SMALED2 due to a novel
    Wan C; Wang Y; Zhou Q; Yu Y; Hong D; Zhu M
    Clin Neuropathol; 2019; 38(3):109-117. PubMed ID: 30738493
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Neurogenic arthrogryposis and the power of phenotyping.
    Rossor AM; Reilly MM
    Neuromuscul Disord; 2021 Oct; 31(10):1062-1069. PubMed ID: 34736627
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.
    Ravenscroft G; Di Donato N; Hahn G; Davis MR; Craven PD; Poke G; Neas KR; Neuhann TM; Dobyns WB; Laing NG
    Neuromuscul Disord; 2016 Nov; 26(11):744-748. PubMed ID: 27751653
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2.
    Yoshioka M; Morisada N; Toyoshima D; Yoshimura H; Nishio H; Iijima K; Takeshima Y; Uehara T; Kosaki K
    Brain Dev; 2018 Apr; 40(4):343-347. PubMed ID: 29273277
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.
    Peeters K; Litvinenko I; Asselbergh B; Almeida-Souza L; Chamova T; Geuens T; Ydens E; Zimoń M; Irobi J; De Vriendt E; De Winter V; Ooms T; Timmerman V; Tournev I; Jordanova A
    Am J Hum Genet; 2013 Jun; 92(6):955-64. PubMed ID: 23664119
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.
    Unger A; Dekomien G; Güttsches A; Dreps T; Kley R; Tegenthoff M; Ferbert A; Weis J; Heyer C; Linke WA; Martinez-Carrera L; Storbeck M; Wirth B; Hoffjan S; Vorgerd M
    Neurology; 2016 Nov; 87(21):2235-2243. PubMed ID: 27784775
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
    Koboldt DC; Waldrop MA; Wilson RK; Flanigan KM
    Ann Neurol; 2020 Apr; 87(4):487-496. PubMed ID: 32057122
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant.
    Yamamoto K; Ohashi K; Fujimoto M; Ieda D; Nakamura Y; Hattori A; Kaname T; Ieda K; Nishino I; Saitoh S
    Brain Dev; 2022 Sep; 44(8):578-582. PubMed ID: 35527075
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development.
    Martinez Carrera LA; Gabriel E; Donohoe CD; Hölker I; Mariappan A; Storbeck M; Uhlirova M; Gopalakrishnan J; Wirth B
    Hum Mol Genet; 2018 May; 27(10):1772-1784. PubMed ID: 29528393
    [TBL] [Abstract][Full Text] [Related]  

  • 17. An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?
    Chin HL; Huynh S; Ashkani J; Castaldo M; Dixon K; Selby K; Shen Y; Wright M; Boerkoel CF; Hendson G; Jones SJM
    Am J Med Genet A; 2022 Mar; 188(3):926-930. PubMed ID: 34825470
    [TBL] [Abstract][Full Text] [Related]  

  • 18. SMALED2 with BICD2 gene mutations: Report of two cases and portrayal of a classical phenotype.
    Picher-Martel V; Morin C; Brunet D; Dionne A
    Neuromuscul Disord; 2020 Aug; 30(8):669-673. PubMed ID: 32709491
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel
    Tumurkhuu M; Batbuyan U; Yuzawa S; Munkhsaikhan Y; Batmunkh G; Nishimura W
    Intractable Rare Dis Res; 2021 May; 10(2):102-108. PubMed ID: 33996355
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy.
    Rossor AM; Sleigh JN; Groves M; Muntoni F; Reilly MM; Hoogenraad CC; Schiavo G
    Acta Neuropathol Commun; 2020 Mar; 8(1):34. PubMed ID: 32183910
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.