BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

645 related articles for article (PubMed ID: 16380616)

  • 1. A mutation in myotilin causes spheroid body myopathy.
    Foroud T; Pankratz N; Batchman AP; Pauciulo MW; Vidal R; Miravalle L; Goebel HH; Cushman LJ; Azzarelli B; Horak H; Farlow M; Nichols WC
    Neurology; 2005 Dec; 65(12):1936-40. PubMed ID: 16380616
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient.
    Shalaby S; Mitsuhashi H; Matsuda C; Minami N; Noguchi S; Nonaka I; Nishino I; Hayashi YK
    J Neuropathol Exp Neurol; 2009 Jun; 68(6):701-7. PubMed ID: 19458539
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Consequences of mutations within the C terminus of the FHL1 gene.
    Schoser B; Goebel HH; Janisch I; Quasthoff S; Rother J; Bergmann M; Müller-Felber W; Windpassinger C
    Neurology; 2009 Aug; 73(7):543-51. PubMed ID: 19687455
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.
    Jungbluth H; Zhou H; Hartley L; Halliger-Keller B; Messina S; Longman C; Brockington M; Robb SA; Straub V; Voit T; Swash M; Ferreiro A; Bydder G; Sewry CA; Müller C; Muntoni F
    Neurology; 2005 Dec; 65(12):1930-5. PubMed ID: 16380615
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Symptomatic dysferlin gene mutation carriers: characterization of two cases.
    Illa I; De Luna N; Domínguez-Perles R; Rojas-García R; Paradas C; Palmer J; Márquez C; Gallano P; Gallardo E
    Neurology; 2007 Apr; 68(16):1284-9. PubMed ID: 17287450
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.
    Arias M; Pardo J; Blanco-Arias P; Sobrido MJ; Arias S; Dapena D; Carracedo A; Goldfarb LG; Navarro C
    Neuromuscul Disord; 2006 Aug; 16(8):498-503. PubMed ID: 16806931
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A new missense mutation in caveolin-3 gene causes rippling muscle disease.
    Dotti MT; Malandrini A; Gambelli S; Salvadori C; De Stefano N; Federico A
    J Neurol Sci; 2006 Apr; 243(1-2):61-4. PubMed ID: 16458928
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis.
    Hedera P; Petty EM; Bui MR; Blaivas M; Fink JK
    Arch Neurol; 2003 Sep; 60(9):1321-5. PubMed ID: 12975303
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3.
    Hedera P; Blair MA; Andermann E; Andermann F; D'Agostino D; Taylor KA; Chahine L; Pandolfo M; Bradford Y; Haines JL; Abou-Khalil B
    Neurology; 2007 Jun; 68(24):2107-12. PubMed ID: 17377072
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Myotilinopathy: refining the clinical and myopathological phenotype.
    Olivé M; Goldfarb LG; Shatunov A; Fischer D; Ferrer I
    Brain; 2005 Oct; 128(Pt 10):2315-26. PubMed ID: 15947064
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1.
    Schessl J; Columbus A; Hu Y; Zou Y; Voit T; Goebel HH; Bönnemann CG
    Neuropediatrics; 2010 Feb; 41(1):43-6. PubMed ID: 20571991
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation.
    Madrid RE; Kubisch C; Hays AP
    Neurology; 2005 Oct; 65(8):1301-3. PubMed ID: 16247063
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM.
    Garvey SM; Miller SE; Claflin DR; Faulkner JA; Hauser MA
    Hum Mol Genet; 2006 Aug; 15(15):2348-62. PubMed ID: 16801328
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Myotilinopathy in a family with late onset myopathy.
    Pénisson-Besnier I; Talvinen K; Dumez C; Vihola A; Dubas F; Fardeau M; Hackman P; Carpen O; Udd B
    Neuromuscul Disord; 2006 Jul; 16(7):427-31. PubMed ID: 16793270
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.
    Udd B; Vihola A; Sarparanta J; Richard I; Hackman P
    Neurology; 2005 Feb; 64(4):636-42. PubMed ID: 15728284
    [TBL] [Abstract][Full Text] [Related]  

  • 16. An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?
    Waters MF; Fee D; Figueroa KP; Nolte D; Müller U; Advincula J; Coon H; Evidente VG; Pulst SM
    Neurology; 2005 Oct; 65(7):1111-3. PubMed ID: 16135769
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
    Berciano J; Gallardo E; Domínguez-Perles R; Gallardo E; García A; García-Barredo R; Combarros O; Infante J; Illa I
    J Neurol Neurosurg Psychiatry; 2008 Feb; 79(2):205-8. PubMed ID: 17698502
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.
    Dick KJ; Al-Mjeni R; Baskir W; Koul R; Simpson MA; Patton MA; Raeburn S; Crosby AH
    Neurology; 2008 Jul; 71(4):248-52. PubMed ID: 18463364
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease.
    Le Ber I; Camuzat A; Berger E; Hannequin D; Laquerrière A; Golfier V; Seilhean D; Viennet G; Couratier P; Verpillat P; Heath S; Camu W; Martinaud O; Lacomblez L; Vercelletto M; Salachas F; Sellal F; Didic M; Thomas-Anterion C; Puel M; Michel BF; Besse C; Duyckaerts C; Meininger V; Campion D; Dubois B; Brice A;
    Neurology; 2009 May; 72(19):1669-76. PubMed ID: 19433740
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.
    Zhang Q; Guo X; Xiao X; Yi J; Jia X; Hejtmancik JF
    Mol Vis; 2004 Nov; 10():890-900. PubMed ID: 15570218
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 33.