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 *

188 related articles for article (PubMed ID: 21892769)

  • 1. SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
    Fischer C; Trajanoski S; Papić L; Windpassinger C; Bernert G; Freilinger M; Schabhüttl M; Arslan-Kirchner M; Javaher-Haghighi P; Plecko B; Senderek J; Rauscher C; Löscher WN; Pieber TR; Janecke AR; Auer-Grumbach M
    J Neurol; 2012 Mar; 259(3):515-23. PubMed ID: 21892769
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan.
    Yoshimura A; Yuan JH; Hashiguchi A; Ando M; Higuchi Y; Nakamura T; Okamoto Y; Nakagawa M; Takashima H
    J Neurol Neurosurg Psychiatry; 2019 Feb; 90(2):195-202. PubMed ID: 30257968
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.
    Zimoń M; Battaloğlu E; Parman Y; Erdem S; Baets J; De Vriendt E; Atkinson D; Almeida-Souza L; Deconinck T; Ozes B; Goossens D; Cirak S; Van Damme P; Shboul M; Voit T; Van Maldergem L; Dan B; El-Khateeb MS; Guergueltcheva V; Lopez-Laso E; Goemans N; Masri A; Züchner S; Timmerman V; Topaloğlu H; De Jonghe P; Jordanova A
    Neurogenetics; 2015 Jan; 16(1):33-42. PubMed ID: 25231362
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2.
    Houlden H; Laura M; Wavrant-De Vrièze F; Blake J; Wood N; Reilly MM
    Neurology; 2008 Nov; 71(21):1660-8. PubMed ID: 18832141
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease.
    Kanwal S; Choi YJ; Lim SO; Choi HJ; Park JH; Nuzhat R; Khan A; Perveen S; Choi BO; Chung KW
    BMC Med Genomics; 2021 Jun; 14(1):174. PubMed ID: 34193129
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis.
    Benedetti S; Previtali SC; Coviello S; Scarlato M; Cerri F; Di Pierri E; Piantoni L; Spiga I; Fazio R; Riva N; Natali Sora MG; Dacci P; Malaguti MC; Munerati E; Grimaldi LM; Marrosu MG; De Pellegrin M; Ferrari M; Comi G; Quattrini A; Bolino A
    Arch Neurol; 2010 Dec; 67(12):1498-505. PubMed ID: 21149811
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.
    Ando M; Hashiguchi A; Okamoto Y; Yoshimura A; Hiramatsu Y; Yuan J; Higuchi Y; Mitsui J; Ishiura H; Umemura A; Maruyama K; Matsushige T; Morishita S; Nakagawa M; Tsuji S; Takashima H
    J Peripher Nerv Syst; 2017 Sep; 22(3):191-199. PubMed ID: 28660751
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients.
    Choi BO; Nakhro K; Park HJ; Hyun YS; Lee JH; Kanwal S; Jung SC; Chung KW
    Clin Genet; 2015 Jun; 87(6):594-8. PubMed ID: 24863639
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.
    Ylikallio E; Johari M; Konovalova S; Moilanen JS; Kiuru-Enari S; Auranen M; Pajunen L; Tyynismaa H
    Eur J Hum Genet; 2014 Apr; 22(4):522-7. PubMed ID: 23963299
    [TBL] [Abstract][Full Text] [Related]  

  • 11. MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.
    Braathen GJ; Sand JC; Lobato A; Høyer H; Russell MB
    BMC Med Genet; 2010 Mar; 11():48. PubMed ID: 20350294
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.
    Azzedine H; Ravisé N; Verny C; Gabrëels-Festen A; Lammens M; Grid D; Vallat JM; Durosier G; Senderek J; Nouioua S; Hamadouche T; Bouhouche A; Guilbot A; Stendel C; Ruberg M; Brice A; Birouk N; Dubourg O; Tazir M; LeGuern E
    Neurology; 2006 Aug; 67(4):602-6. PubMed ID: 16924012
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy.
    Houlden H; Laura M; Ginsberg L; Jungbluth H; Robb SA; Blake J; Robinson S; King RH; Reilly MM
    Neuromuscul Disord; 2009 Apr; 19(4):264-9. PubMed ID: 19272779
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype.
    Iapadre G; Morana G; Vari MS; Pinto F; Lanteri P; Tessa A; Santorelli FM; Striano P; Verrotti A
    Eur J Paediatr Neurol; 2018 May; 22(3):563-567. PubMed ID: 29361379
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Phenotype of Charcot-Marie-Tooth disease Type 2.
    Bienfait HM; Baas F; Koelman JH; de Haan RJ; van Engelen BG; Gabreëls-Festen AA; Ongerboer de Visser BW; Meggouh F; Weterman MA; De Jonghe P; Timmerman V; de Visser M
    Neurology; 2007 May; 68(20):1658-67. PubMed ID: 17502546
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Homozygous Mutations in
    Asif M; Chiou CC; Hussain MF; Hussain M; Sajid Z; Gulsher M; Raheem A; Khan A; Nasreen N; Kloczkowski A; Hassan M; Iqbal F; Chen CC
    DNA Cell Biol; 2023 Nov; 42(11):697-708. PubMed ID: 37797217
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease].
    Zhang RX; Fu M; Zi XH; Li XB; Zhang FF; Xia K; Pan Q; Hu ZM; Tang BS
    Zhonghua Yi Xue Za Zhi; 2009 Dec; 89(47):3324-7. PubMed ID: 20193559
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.
    Tang B; Liu X; Zhao G; Luo W; Xia K; Pan Q; Cai F; Hu Z; Zhang C; Chen B; Zhang F; Shen L; Zhang R; Jiang H
    Arch Neurol; 2005 Aug; 62(8):1201-7. PubMed ID: 16087758
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.
    McCorquodale DS; Montenegro G; Peguero A; Carlson N; Speziani F; Price J; Taylor SW; Melanson M; Vance JM; Züchner S
    J Neurol; 2011 Jul; 258(7):1234-9. PubMed ID: 21258814
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
    Pipis M; Feely SME; Polke JM; Skorupinska M; Perez L; Shy RR; Laura M; Morrow JM; Moroni I; Pisciotta C; Taroni F; Vujovic D; Lloyd TE; Acsadi G; Yum SW; Lewis RA; Finkel RS; Herrmann DN; Day JW; Li J; Saporta M; Sadjadi R; Walk D; Burns J; Muntoni F; Ramchandren S; Horvath R; Johnson NE; Züchner S; Pareyson D; Scherer SS; Rossor AM; Shy ME; Reilly MM;
    Brain; 2020 Dec; 143(12):3589-3602. PubMed ID: 33415332
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.