BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

196 related articles for article (PubMed ID: 28633435)

  • 1. MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
    Ylikallio E; Woldegebriel R; Tumiati M; Isohanni P; Ryan MM; Stark Z; Walsh M; Sawyer SL; Bell KM; Oshlack A; Lockhart PJ; Shcherbii M; Estrada-Cuzcano A; Atkinson D; Hartley T; Tetreault M; Cuppen I; van der Pol WL; Candayan A; Battaloglu E; Parman Y; van Gassen KLI; van den Boogaard MH; Boycott KM; Kauppi L; Jordanova A; Lönnqvist T; Tyynismaa H
    Brain; 2017 Aug; 140(8):2093-2103. PubMed ID: 28633435
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease.
    Dong HL; Wei Q; Li JQ; Li HF; Bai G; Ma H; Wu ZY
    J Peripher Nerv Syst; 2020 Jun; 25(2):107-111. PubMed ID: 32319184
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in
    Sedghi M; Moslemi AR; Cabrera-Serrano M; Ansari B; Ghasemi M; Baktashian M; Fattahpour A; Tajsharghi H
    Brain Commun; 2019; 1(1):fcz011. PubMed ID: 32954258
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
    Woldegebriel R; Kvist J; Andersson N; Õunap K; Reinson K; Wojcik MH; Bijlsma EK; Hoffer MJV; Ryan MM; Stark Z; Walsh M; Cuppen I; van den Boogaard MH; Bharucha-Goebel D; Donkervoort S; Winchester S; Zori R; Bönnemann CG; Maroofian R; O'Connor E; Houlden H; Zhao F; Carpén O; White M; Sreedharan J; Stewart M; Ylikallio E; Tyynismaa H
    Hum Mol Genet; 2020 Jun; 29(9):1426-1439. PubMed ID: 32202298
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy.
    Kennerson ML; Corbett AC; Ellis M; Perez-Siles G; Nicholson GA
    Brain; 2018 Sep; 141(9):e66. PubMed ID: 29982295
    [No Abstract]   [Full Text] [Related]  

  • 6. Reply: A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy.
    Ylikallio E; Woldegebriel R; Tyynismaa H
    Brain; 2018 Sep; 141(9):e67. PubMed ID: 29982292
    [No Abstract]   [Full Text] [Related]  

  • 7. Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.
    Karakaya M; Mazaheri N; Polat I; Bharucha-Goebel D; Donkervoort S; Maroofian R; Shariati G; Hoelker I; Monaghan K; Winchester S; Zori R; Galehdari H; Bönnemann CG; Yis U; Wirth B
    Brain; 2017 Oct; 140(10):e65. PubMed ID: 28969388
    [No Abstract]   [Full Text] [Related]  

  • 8. 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]  

  • 9. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
    Sevilla T; Lupo V; Martínez-Rubio D; Sancho P; Sivera R; Chumillas MJ; García-Romero M; Pascual-Pascual SI; Muelas N; Dopazo J; Vílchez JJ; Palau F; Espinós C
    Brain; 2016 Jan; 139(Pt 1):62-72. PubMed ID: 26497905
    [TBL] [Abstract][Full Text] [Related]  

  • 10. De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
    Motley WW; Palaima P; Yum SW; Gonzalez MA; Tao F; Wanschitz JV; Strickland AV; Löscher WN; De Vriendt E; Koppi S; Medne L; Janecke AR; Jordanova A; Zuchner S; Scherer SS
    Brain; 2016 Jun; 139(Pt 6):1649-56. PubMed ID: 27009151
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.
    Chung KW; Kim SB; Park KD; Choi KG; Lee JH; Eun HW; Suh JS; Hwang JH; Kim WK; Seo BC; Kim SH; Son IH; Kim SM; Sunwoo IN; Choi BO
    Brain; 2006 Aug; 129(Pt 8):2103-18. PubMed ID: 16835246
    [TBL] [Abstract][Full Text] [Related]  

  • 12. De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
    Mendoza-Ferreira N; Karakaya M; Cengiz N; Beijer D; Brigatti KW; Gonzaga-Jauregui C; Fuhrmann N; Hölker I; Thelen MP; Zetzsche S; Rombo R; Puffenberger EG; De Jonghe P; Deconinck T; Zuchner S; Strauss KA; Carson V; Schrank B; Wunderlich G; Baets J; Wirth B
    Am J Hum Genet; 2020 Oct; 107(4):763-777. PubMed ID: 32937143
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport.
    Gustavsson EK; Follett J; Farrer MJ; Aasly JO
    Muscle Nerve; 2019 Sep; 60(3):311-314. PubMed ID: 31241196
    [TBL] [Abstract][Full Text] [Related]  

  • 14. SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.
    Rebelo AP; Saade D; Pereira CV; Farooq A; Huff TC; Abreu L; Moraes CT; Mnatsakanova D; Mathews K; Yang H; Schon EA; Zuchner S; Shy ME
    Brain; 2018 Mar; 141(3):662-672. PubMed ID: 29351582
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
    Senderek J; Bergmann C; Stendel C; Kirfel J; Verpoorten N; De Jonghe P; Timmerman V; Chrast R; Verheijen MH; Lemke G; Battaloglu E; Parman Y; Erdem S; Tan E; Topaloglu H; Hahn A; Müller-Felber W; Rizzuto N; Fabrizi GM; Stuhrmann M; Rudnik-Schöneborn S; Züchner S; Michael Schröder J; Buchheim E; Straub V; Klepper J; Huehne K; Rautenstrauss B; Büttner R; Nelis E; Zerres K
    Am J Hum Genet; 2003 Nov; 73(5):1106-19. PubMed ID: 14574644
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family.
    Martin AM; Maradei SJ; Velasco HM
    Colomb Med (Cali); 2015 Dec; 46(4):194-8. PubMed ID: 26848201
    [TBL] [Abstract][Full Text] [Related]  

  • 17. SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.
    Manole A; Horga A; Gamez J; Raguer N; Salvado M; San Millán B; Navarro C; Pittmann A; Reilly MM; Houlden H
    Neurogenetics; 2017 Jan; 18(1):63-67. PubMed ID: 28005197
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
    Bouhouche A; Birouk N; Azzedine H; Benomar A; Durosier G; Ente D; Muriel MP; Ruberg M; Slassi I; Yahyaoui M; Dubourg O; Ouazzani R; LeGuern E
    Brain; 2007 Apr; 130(Pt 4):1062-75. PubMed ID: 17347251
    [TBL] [Abstract][Full Text] [Related]  

  • 20. NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.
    Berciano J; Peeters K; García A; López-Alburquerque T; Gallardo E; Hernández-Fabián A; Pelayo-Negro AL; De Vriendt E; Infante J; Jordanova A
    J Neurol; 2016 Feb; 263(2):361-369. PubMed ID: 26645395
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.