BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

109 related articles for article (PubMed ID: 15477569)

  • 21. Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.
    Berger P; Bonneick S; Willi S; Wymann M; Suter U
    Hum Mol Genet; 2002 Jun; 11(13):1569-79. PubMed ID: 12045210
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Clinicopathological and genetic study of early-onset demyelinating neuropathy.
    Parman Y; Battaloglu E; Baris I; Bilir B; Poyraz M; Bissar-Tadmouri N; Williams A; Ammar N; Nelis E; Timmerman V; De Jonghe P; Najafov A; Deymeer F; Serdaroglu P; Brophy PJ; Said G
    Brain; 2004 Nov; 127(Pt 11):2540-50. PubMed ID: 15469949
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Mild phenotype of Charcot-Marie-Tooth disease type 4B1.
    Murakami T; Kutoku Y; Nishimura H; Hayashi M; Abe A; Hayasaka K; Sunada Y
    J Neurol Sci; 2013 Nov; 334(1-2):176-9. PubMed ID: 23962696
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Molecular genetics of inherited neuropathies].
    Takashima H
    Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells.
    Chojnowski A; Ravisé N; Bachelin C; Depienne C; Ruberg M; Brugg B; Laporte J; Baron-Van Evercooren A; LeGuern E
    Neurobiol Dis; 2007 May; 26(2):323-31. PubMed ID: 17336078
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.
    LeGuern E; Guilbot A; Kessali M; Ravisé N; Tassin J; Maisonobe T; Grid D; Brice A
    Hum Mol Genet; 1996 Oct; 5(10):1685-8. PubMed ID: 8894708
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy).
    Bertini E; Biancalana V; Bolino A; Buj Bello A; Clague M; Guicheney P; Jungbluth H; Kress W; Musaro' A; Nandurkar H; Pirola L; Romero N; Senderek J; Suter U; Sewry C; Tronchere H; Wallgren-Pettersson C; Wishart MJ; Laporte J
    Neuromuscul Disord; 2004 Jun; 14(6):387-96. PubMed ID: 15145343
    [No Abstract]   [Full Text] [Related]  

  • 28. Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.
    Nouioua S; Hamadouche T; Funalot B; Bernard R; Bellatache N; Bouderba R; Grid D; Assami S; Benhassine T; Levy N; Vallat JM; Tazir M
    Neuromuscul Disord; 2011 Aug; 21(8):543-50. PubMed ID: 21741241
    [TBL] [Abstract][Full Text] [Related]  

  • 29. An animal model for Charcot-Marie-Tooth disease type 4B1.
    Bonneick S; Boentert M; Berger P; Atanasoski S; Mantei N; Wessig C; Toyka KV; Young P; Suter U
    Hum Mol Genet; 2005 Dec; 14(23):3685-95. PubMed ID: 16249189
    [TBL] [Abstract][Full Text] [Related]  

  • 30. The death panel for Charcot-Marie-Tooth panels.
    Amato AA; Reilly MM
    Ann Neurol; 2011 Jan; 69(1):1-4. PubMed ID: 21280068
    [No Abstract]   [Full Text] [Related]  

  • 31. Autosomal-recessive Charcot-Marie-Tooth diseases.
    Vallat JM; Tazir M; Magdelaine C; Sturtz F; Grid D
    J Neuropathol Exp Neurol; 2005 May; 64(5):363-70. PubMed ID: 15892292
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Is there a single form of Charcot-Marie-Tooth disease, or are there several variations? A classification difficulty].
    Ben Hamida M; Ben Othmane K; Belal S; Hentati F
    Rev Neurol (Paris); 1995 Apr; 151(4):221-4. PubMed ID: 7481371
    [No Abstract]   [Full Text] [Related]  

  • 33. Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A.
    Valentijn LJ; Baas F; Zorn I; Hensels GW; de Visser M; Bolhuis PA
    Hum Mol Genet; 1993 Dec; 2(12):2143-6. PubMed ID: 8111385
    [No Abstract]   [Full Text] [Related]  

  • 34. 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]  

  • 35. Myotubularin phosphatases: policing 3-phosphoinositides.
    Robinson FL; Dixon JE
    Trends Cell Biol; 2006 Aug; 16(8):403-12. PubMed ID: 16828287
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
    Baxter RV; Ben Othmane K; Rochelle JM; Stajich JE; Hulette C; Dew-Knight S; Hentati F; Ben Hamida M; Bel S; Stenger JE; Gilbert JR; Pericak-Vance MA; Vance JM
    Nat Genet; 2002 Jan; 30(1):21-2. PubMed ID: 11743579
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Mutations in the Myelin Protein Zero result in a spectrum of Charcot-Marie-Tooth phenotypes.
    Kochański A
    Acta Myol; 2004 May; 23(1):6-9. PubMed ID: 15298082
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene.
    Kabzinska D; Drac H; Rowinska-Marcinska K; Fidzianska A; Kochanski A; Hausmanowa-Petrusewicz I
    Acta Myol; 2006 Jun; 25(1):34-7. PubMed ID: 17039978
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11.
    De Sandre-Giovannoli A; Delague V; Hamadouche T; Chaouch M; Krahn M; Boccaccio I; Maisonobe T; Chouery E; Jabbour R; Atweh S; Grid D; Mégarbané A; Lévy N
    J Med Genet; 2005 Mar; 42(3):260-5. PubMed ID: 15744041
    [No Abstract]   [Full Text] [Related]  

  • 40. Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies.
    Chance PF; Fischbeck KH
    Hum Mol Genet; 1994; 3 Spec No():1503-7. PubMed ID: 7849745
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.