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 *

236 related articles for article (PubMed ID: 27588448)

  • 61. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
    Boyer O; Nevo F; Plaisier E; Funalot B; Gribouval O; Benoit G; Huynh Cong E; Arrondel C; Tête MJ; Montjean R; Richard L; Karras A; Pouteil-Noble C; Balafrej L; Bonnardeaux A; Canaud G; Charasse C; Dantal J; Deschenes G; Deteix P; Dubourg O; Petiot P; Pouthier D; Leguern E; Guiochon-Mantel A; Broutin I; Gubler MC; Saunier S; Ronco P; Vallat JM; Alonso MA; Antignac C; Mollet G
    N Engl J Med; 2011 Dec; 365(25):2377-88. PubMed ID: 22187985
    [TBL] [Abstract][Full Text] [Related]  

  • 62. An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).
    Misu K; Yoshihara T; Shikama Y; Awaki E; Yamamoto M; Hattori N; Hirayama M; Takegami T; Nakashima K; Sobue G
    J Neurol Neurosurg Psychiatry; 2000 Dec; 69(6):806-11. PubMed ID: 11080237
    [TBL] [Abstract][Full Text] [Related]  

  • 63. Membrane metallo-endopeptidase is dispensable for repair after nerve injury.
    Cervellini I; Galino J; Zhu N; Fricker FR; Bao L; Bennett DLH
    Glia; 2019 Oct; 67(10):1990-2000. PubMed ID: 31339187
    [TBL] [Abstract][Full Text] [Related]  

  • 64. Report of a novel mutation in the PMP22 gene causing an axonal neuropathy.
    Gess B; Jeibmann A; Schirmacher A; Kleffner I; Schilling M; Young P
    Muscle Nerve; 2011 Apr; 43(4):605-9. PubMed ID: 21337347
    [TBL] [Abstract][Full Text] [Related]  

  • 65. 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]  

  • 66. Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
    Nishiguchi KM; Avila-Fernandez A; van Huet RA; Corton M; Pérez-Carro R; Martín-Garrido E; López-Molina MI; Blanco-Kelly F; Hoefsloot LH; van Zelst-Stams WA; García-Ruiz PJ; Del Val J; Di Gioia SA; Klevering BJ; van de Warrenburg BP; Vazquez C; Cremers FP; García-Sandoval B; Hoyng CB; Collin RW; Rivolta C; Ayuso C
    Ophthalmology; 2014 Aug; 121(8):1620-7. PubMed ID: 24697911
    [TBL] [Abstract][Full Text] [Related]  

  • 67. A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs.
    Becker D; Minor KM; Letko A; Ekenstedt KJ; Jagannathan V; Leeb T; Shelton GD; Mickelson JR; Drögemüller C
    BMC Genomics; 2017 Aug; 18(1):662. PubMed ID: 28841859
    [TBL] [Abstract][Full Text] [Related]  

  • 68. A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy.
    Miura S; Morikawa T; Fujioka R; Noda K; Kosaka K; Taniwaki T; Shibata H
    Eur J Med Genet; 2017 Sep; 60(9):474-478. PubMed ID: 28642160
    [TBL] [Abstract][Full Text] [Related]  

  • 69. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.
    Birouk N; LeGuern E; Maisonobe T; Rouger H; Gouider R; Tardieu S; Gugenheim M; Routon MC; Léger JM; Agid Y; Brice A; Bouche P
    Neurology; 1998 Apr; 50(4):1074-82. PubMed ID: 9566397
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Targeting the colony stimulating factor 1 receptor alleviates two forms of Charcot-Marie-Tooth disease in mice.
    Klein D; Patzkó Á; Schreiber D; van Hauwermeiren A; Baier M; Groh J; West BL; Martini R
    Brain; 2015 Nov; 138(Pt 11):3193-205. PubMed ID: 26297559
    [TBL] [Abstract][Full Text] [Related]  

  • 71. A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21.
    Ismailov SM; Fedotov VP; Dadali EL; Polyakov AV; Van Broeckhoven C; Ivanov VI; De Jonghe P; Timmerman V; Evgrafov OV
    Eur J Hum Genet; 2001 Aug; 9(8):646-50. PubMed ID: 11528513
    [TBL] [Abstract][Full Text] [Related]  

  • 72. Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy.
    Lin CH; Tsai PI; Lin HY; Hattori N; Funayama M; Jeon B; Sato K; Abe K; Mukai Y; Takahashi Y; Li Y; Nishioka K; Yoshino H; Daida K; Chen ML; Cheng J; Huang CY; Tzeng SR; Wu YS; Lai HJ; Tsai HH; Yen RF; Lee NC; Lo WC; Hung YC; Chan CC; Ke YC; Chao CC; Hsieh ST; Farrer M; Wu RM
    Brain; 2020 Dec; 143(11):3352-3373. PubMed ID: 33141179
    [TBL] [Abstract][Full Text] [Related]  

  • 73. Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.
    Gonzalez M; McLaughlin H; Houlden H; Guo M; Yo-Tsen L; Hadjivassilious M; Speziani F; Yang XL; Antonellis A; Reilly MM; Züchner S;
    J Neurol Neurosurg Psychiatry; 2013 Nov; 84(11):1247-9. PubMed ID: 23729695
    [TBL] [Abstract][Full Text] [Related]  

  • 74. PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.
    Juneja M; Azmi A; Baets J; Roos A; Jennings MJ; Saveri P; Pisciotta C; Bernard-Marissal N; Schneider BL; Verfaillie C; Chrast R; Seeman P; Hahn AF; de Jonghe P; Maudsley S; Horvath R; Pareyson D; Timmerman V
    J Neurol Neurosurg Psychiatry; 2018 Aug; 89(8):870-878. PubMed ID: 29449460
    [TBL] [Abstract][Full Text] [Related]  

  • 75. A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.
    Choi YR; Hong YB; Jung SC; Lee JH; Kim YJ; Park HJ; Lee J; Koo H; Lee JS; Jwa DH; Jung N; Woo SY; Kim SB; Chung KW; Choi BO
    BMC Neurol; 2015 Oct; 15():179. PubMed ID: 26437932
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
    Sullivan JM; Motley WW; Johnson JO; Aisenberg WH; Marshall KL; Barwick KE; Kong L; Huh JS; Saavedra-Rivera PC; McEntagart MM; Marion MH; Hicklin LA; Modarres H; Baple EL; Farah MH; Zuberi AR; Lutz CM; Gaudet R; Traynor BJ; Crosby AH; Sumner CJ
    J Clin Invest; 2020 Mar; 130(3):1506-1512. PubMed ID: 32065591
    [TBL] [Abstract][Full Text] [Related]  

  • 77. A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.
    Goizet C; Yaou RB; Demay L; Richard P; Bouillot S; Rouanet M; Hermosilla E; Le Masson G; Lagueny A; Bonne G; Ferrer X
    J Med Genet; 2004 Mar; 41(3):e29. PubMed ID: 14985400
    [No Abstract]   [Full Text] [Related]  

  • 78. Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.
    Klein CJ; Wu Y; Vogel P; Goebel HH; Bönnemann C; Zukosky K; Botuyan MV; Duan X; Middha S; Atkinson EJ; Mer G; Dyck PJ
    Neurology; 2014 Mar; 82(10):873-8. PubMed ID: 24500646
    [TBL] [Abstract][Full Text] [Related]  

  • 79. Polyneuropathy in Young Siberian Huskies Caused by Degenerative and Inflammatory Diseases.
    Jahns H; Vernau KM; Nolan CM; O'Neill EJ; Shiel RE; Shelton GD
    Vet Pathol; 2020 Sep; 57(5):666-674. PubMed ID: 32578500
    [TBL] [Abstract][Full Text] [Related]  

  • 80. Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies.
    Paketci C; Karakaya M; Edem P; Bayram E; Keller N; Daimagüler HS; Cirak S; Jordanova A; Hiz S; Wirth B; Yiş U
    Rev Neurol (Paris); 2020 Dec; 176(10):846-855. PubMed ID: 32709422
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.