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 *

175 related articles for article (PubMed ID: 23912496)

  • 41. Spatial Fluctuation of Central Nervous System Lesions in X-linked Charcot-Marie-Tooth Disease with a Novel GJB1 Mutation.
    Yoshimoto Y; Yoshimoto S; Kakiuchi K; Miyagawa R; Ota S; Hosokawa T; Ishida S; Higuchi Y; Hashiguchi A; Takashima H; Arawaka S
    Intern Med; 2024 Feb; 63(4):571-576. PubMed ID: 37407465
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes.
    Michaelidou K; Tsiverdis I; Erimaki S; Papadimitriou D; Amoiridis G; Papadimitriou A; Mitsias P; Zaganas I
    Mol Genet Genomic Med; 2020 Apr; 8(4):e1141. PubMed ID: 32022442
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
    Huehne K; Benes V; Thiel C; Kraus C; Kress W; Hoeltzenbein M; Ploner CJ; Kotzian J; Reis A; Rott HD; Rautenstrauss BW
    Hum Mutat; 2003 Jan; 21(1):100. PubMed ID: 12497641
    [TBL] [Abstract][Full Text] [Related]  

  • 44. 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]  

  • 45. Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.
    Lu YY; Lyu H; Jin SQ; Zuo YH; Liu J; Wang ZX; Zhang W; Yuan Y
    Chin Med J (Engl); 2017 May; 130(9):1049-1054. PubMed ID: 28469099
    [TBL] [Abstract][Full Text] [Related]  

  • 46. X-linked Charcot-Marie-Tooth Disease Presenting with Stuttering Stroke-like Symptoms.
    Hardy DI; Licht DJ; Vossough A; Kirschen MP
    Neuropediatrics; 2019 Oct; 50(5):304-307. PubMed ID: 31220874
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.
    Chung KW; Sunwoo IN; Kim SM; Park KD; Kim WK; Kim TS; Koo H; Cho M; Lee J; Choi BO
    Neurogenetics; 2005 Sep; 6(3):159-63. PubMed ID: 15947997
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease.
    Takashima H; Nakagawa M; Umehara F; Hirata K; Suehara M; Mayumi H; Yoshishige K; Matsuyama W; Saito M; Jonosono M; Arimura K; Osame M
    Acta Neurol Scand; 2003 Jan; 107(1):31-7. PubMed ID: 12542510
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Clinical and molecular studies in a family with probable X-linked dominant Charcot-Marie-Tooth disease involving the central nervous system.
    Hisama FM; Lee HH; Vashlishan A; Tekumalla P; Russell DS; Auld E; Goldstein JM
    Arch Neurol; 2001 Nov; 58(11):1891-6. PubMed ID: 11709000
    [TBL] [Abstract][Full Text] [Related]  

  • 50. X-linked Charcot-Marie-Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: A case report.
    Kim JK; Han SA; Kim SJ
    Medicine (Baltimore); 2017 Dec; 96(49):e9176. PubMed ID: 29245364
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.
    Padilha JPD; Brasil CS; Hoefel AML; Winckler PB; Donis KC; Brusius-Facchin AC; Saute JAM
    Clin Genet; 2020 Aug; 98(2):185-190. PubMed ID: 32506583
    [TBL] [Abstract][Full Text] [Related]  

  • 52. GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali.
    Yalcouyé A; Diallo SH; Cissé L; Karembé M; Diallo S; Coulibaly T; Diarra S; Coulibaly D; Keita M; Guinto CO; Fischbeck KH; Wonkam A; Landouré G;
    J Peripher Nerv Syst; 2022 Jun; 27(2):113-119. PubMed ID: 35383424
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Novel gap junction protein beta-1 gene mutation associated with a stroke-like syndrome and central nervous system involvement in patients with X-linked Charcot-Marie-Tooth Type 1: A case report and literature review.
    Hu G; Zhang L; Zhang M; Yang C; Nie X; Xiang F; Chen L; Dong Z; Yu S
    Clin Neurol Neurosurg; 2019 May; 180():68-73. PubMed ID: 30952033
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Charcot-Marie-Tooth disease masquerading as acute demyelinating encephalomyelitis-like illness.
    Kim GH; Kim KM; Suh SI; Ki CS; Eun BL
    Pediatrics; 2014 Jul; 134(1):e270-3. PubMed ID: 24958582
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Deletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease.
    Kulshrestha R; Burton-Jones S; Antoniadi T; Rogers M; Jaunmuktane Z; Brandner S; Kiely N; Manuel R; Willis T
    Neuromuscul Disord; 2017 Aug; 27(8):766-770. PubMed ID: 28601552
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease.
    Barbat du Closel L; Bonello-Palot N; Péréon Y; Echaniz-Laguna A; Camdessanche JP; Nadaj-Pakleza A; Chanson JB; Frachet S; Magy L; Cassereau J; Cintas P; Choumert A; Devic P; Leonard Louis S; Gravier Dumonceau R; Delmont E; Salort-Campana E; Bouhour F; Latour P; Stojkovic T; Attarian S
    Eur J Neurol; 2023 Oct; 30(10):3265-3276. PubMed ID: 37335503
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. Phenotypic variability and central nervous system involvement.
    Karadima G; Koutsis G; Raftopoulou M; Floroskufi P; Karletidi KM; Panas M
    J Neurol Sci; 2014 Jun; 341(1-2):158-61. PubMed ID: 24768312
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Recurrent central nervous system white matter changes in charcot-Marie-tooth type X disease.
    McKinney JL; De Los Reyes EC; Lo WD; Flanigan KM
    Muscle Nerve; 2014 Mar; 49(3):451-4. PubMed ID: 24170412
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype--usefulness of human mapping chip linkage analysis in a Czech family.
    Safka Brožková D; Nevšímalová S; Mazanec R; Rautenstrauss B; Seeman P
    Neuromuscul Disord; 2012 Aug; 22(8):742-6. PubMed ID: 22546699
    [TBL] [Abstract][Full Text] [Related]  

  • 60. A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations.
    Vital A; Latour P; Sole G; Ferrer X; Rouanet M; Tison F; Vital C; Goizet C
    Neuromuscul Disord; 2012 Aug; 22(8):735-41. PubMed ID: 22546700
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.