BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

202 related articles for article (PubMed ID: 7506095)

  • 1. De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
    Hayasaka K; Himoro M; Sawaishi Y; Nanao K; Takahashi T; Takada G; Nicholson GA; Ouvrier RA; Tachi N
    Nat Genet; 1993 Nov; 5(3):266-8. PubMed ID: 7506095
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.
    Valentijn LJ; Ouvrier RA; van den Bosch NH; Bolhuis PA; Baas F; Nicholson GA
    Hum Mutat; 1995; 5(1):76-80. PubMed ID: 7728152
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
    Roa BB; Dyck PJ; Marks HG; Chance PF; Lupski JR
    Nat Genet; 1993 Nov; 5(3):269-73. PubMed ID: 8275092
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.
    Warner LE; Shohat M; Shorer Z; Lupski JR
    Hum Mutat; 1997; 10(1):21-4. PubMed ID: 9222756
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
    Ikegami T; Nicholson G; Ikeda H; Ishida A; Johnston H; Wise G; Ouvrier R; Hayasaka K
    Biochem Biophys Res Commun; 1996 May; 222(1):107-10. PubMed ID: 8630052
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Mutation of the myelin Po gene in hereditary motor and sensory neuropathy].
    Hayasaka K
    Rinsho Shinkeigaku; 1995 Dec; 35(12):1444-6. PubMed ID: 8752425
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.
    Hayasaka K; Himoro M; Sato W; Takada G; Uyemura K; Shimizu N; Bird TD; Conneally PM; Chance PF
    Nat Genet; 1993 Sep; 5(1):31-4. PubMed ID: 7693129
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72.
    Marques W; Thomas PK; Sweeney MG; Carr L; Wood NW
    Ann Neurol; 1998 May; 43(5):680-3. PubMed ID: 9585367
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Phenotypic clustering in MPZ mutations.
    Shy ME; Jáni A; Krajewski K; Grandis M; Lewis RA; Li J; Shy RR; Balsamo J; Lilien J; Garbern JY; Kamholz J
    Brain; 2004 Feb; 127(Pt 2):371-84. PubMed ID: 14711881
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Actual nosology of polyneuropathies in childhood].
    Férnandez-Alvarez E
    Rev Neurol; 1996 Nov; 24(135):1382-4. PubMed ID: 8974741
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation].
    Ohnishi A; Yoshimura T; Kanehisa Y; Fukushima Y
    Rinsho Shinkeigaku; 1995 Jul; 35(7):788-92. PubMed ID: 8777804
    [TBL] [Abstract][Full Text] [Related]  

  • 12. New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype.
    Floroskufi P; Panas M; Karadima G; Vassilopoulos D
    Muscle Nerve; 2007 May; 35(5):667-9. PubMed ID: 17143884
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype.
    Rautenstrauss B; Nelis E; Grehl H; Pfeiffer RA; Van Broeckhoven C
    Hum Mol Genet; 1994 Sep; 3(9):1701-2. PubMed ID: 7530550
    [No Abstract]   [Full Text] [Related]  

  • 14. Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.
    Nelis E; Haites N; Van Broeckhoven C
    Hum Mutat; 1999; 13(1):11-28. PubMed ID: 9888385
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patients.
    Silander K; Meretoja P; Nelis E; Timmerman V; Van Broeckhoven C; Aula P; Savontaus ML
    Hum Mutat; 1996; 8(4):304-10. PubMed ID: 8956034
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0.
    Simonati A; Fabrizi GM; Taioli F; Polo A; Cerini R; Rizzuto N
    J Neurol; 2002 Sep; 249(9):1298-302. PubMed ID: 12242557
    [TBL] [Abstract][Full Text] [Related]  

  • 17. New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1.
    Himoro M; Yoshikawa H; Matsui T; Mitsui Y; Takahashi M; Kaido M; Nishimura T; Sawaishi Y; Takada G; Hayasaka K
    Biochem Mol Biol Int; 1993 Sep; 31(1):169-73. PubMed ID: 7505151
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Dejerine-Sottas' neuropathy caused by the missense mutation PMP22 Ser72Leu.
    Marques W; Neto JM; Barreira AA
    Acta Neurol Scand; 2004 Sep; 110(3):196-9. PubMed ID: 15285778
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy.
    Brožková D; Mazanec R; Rychlý Z; Haberlová J; Böhm J; Staněk J; Plevová P; Lisoňová J; Sabová J; Sakmaryová I; Seeman P
    Muscle Nerve; 2011 Nov; 44(5):819-22. PubMed ID: 22006697
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in demyelinating peripheral neuropathies support molecular model of myelin P0-glycoprotein extracellular domain.
    Kirschner DA; Saavedra RA
    J Neurosci Res; 1994 Sep; 39(1):63-9. PubMed ID: 7528817
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.