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Journal Abstract Search

283 related items for PubMed ID: 15050448

  • 21. [Myofibrillar myopathy].
    Hayashi YK.
    Brain Nerve; 2011 Nov; 63(11):1179-88. PubMed ID: 22068470
    [Abstract] [Full Text] [Related]

  • 22. Autopsy case of desminopathy involving skeletal and cardiac muscle.
    Yuri T, Miki K, Tsukamoto R, Shinde A, Kusaka H, Tsubura A.
    Pathol Int; 2007 Jan; 57(1):32-6. PubMed ID: 17199740
    [Abstract] [Full Text] [Related]

  • 23. Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.
    Bär H, Goudeau B, Wälde S, Casteras-Simon M, Mücke N, Shatunov A, Goldberg YP, Clarke C, Holton JL, Eymard B, Katus HA, Fardeau M, Goldfarb L, Vicart P, Herrmann H.
    Hum Mutat; 2007 Apr; 28(4):374-86. PubMed ID: 17221859
    [Abstract] [Full Text] [Related]

  • 24. A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract.
    Liu Y, Zhang X, Luo L, Wu M, Zeng R, Cheng G, Hu B, Liu B, Liang JJ, Shang F.
    Invest Ophthalmol Vis Sci; 2006 Mar; 47(3):1069-75. PubMed ID: 16505043
    [Abstract] [Full Text] [Related]

  • 25. Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration.
    Lobrinus JA, Janzer RC, Kuntzer T, Matthieu JM, Pfend G, Goy JJ, Bogousslavsky J.
    Neuromuscul Disord; 1998 Apr; 8(2):77-86. PubMed ID: 9608560
    [Abstract] [Full Text] [Related]

  • 26. How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.
    Clemen CS, Fischer D, Reimann J, Eichinger L, Müller CR, Müller HD, Goebel HH, Schröder R.
    Hum Mutat; 2009 Mar; 30(3):E490-9. PubMed ID: 19105189
    [Abstract] [Full Text] [Related]

  • 27. Restrictive cardiomyopathy, atrioventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits.
    Arbustini E, Morbini P, Grasso M, Fasani R, Verga L, Bellini O, Dal Bello B, Campana C, Piccolo G, Febo O, Opasich C, Gavazzi A, Ferrans VJ.
    J Am Coll Cardiol; 1998 Mar 01; 31(3):645-53. PubMed ID: 9502648
    [Abstract] [Full Text] [Related]

  • 28. Desmin-related myopathy: report of a rare case.
    Sridhar E, Sharma MC, Sarkar C, Singh S, Das T.
    Neurol India; 2005 Jun 01; 53(2):229-31. PubMed ID: 16010068
    [Abstract] [Full Text] [Related]

  • 29. Intermediate filament diseases: desminopathy.
    Goldfarb LG, Olivé M, Vicart P, Goebel HH.
    Adv Exp Med Biol; 2008 Jun 01; 642():131-64. PubMed ID: 19181099
    [Abstract] [Full Text] [Related]

  • 30. 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 01; 79(2):205-8. PubMed ID: 17698502
    [Abstract] [Full Text] [Related]

  • 31. Titin mutation segregates with hereditary myopathy with early respiratory failure.
    Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, Evilä A, Vihola A, Hackman P, Straub V, Dick DJ, Horvath R, Santibanez-Koref M, Udd B, Chinnery PF.
    Brain; 2012 Jun 01; 135(Pt 6):1695-713. PubMed ID: 22577215
    [Abstract] [Full Text] [Related]

  • 32. Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.
    Olivé M, Armstrong J, Miralles F, Pou A, Fardeau M, Gonzalez L, Martínez F, Fischer D, Martínez Matos JA, Shatunov A, Goldfarb L, Ferrer I.
    Neuromuscul Disord; 2007 Jun 01; 17(6):443-50. PubMed ID: 17418574
    [Abstract] [Full Text] [Related]

  • 33. Myotilinopathy: refining the clinical and myopathological phenotype.
    Olivé M, Goldfarb LG, Shatunov A, Fischer D, Ferrer I.
    Brain; 2005 Oct 01; 128(Pt 10):2315-26. PubMed ID: 15947064
    [Abstract] [Full Text] [Related]

  • 34. Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.
    Walter MC, Reilich P, Huebner A, Fischer D, Schröder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmüller H.
    Brain; 2007 Jun 01; 130(Pt 6):1485-96. PubMed ID: 17439987
    [Abstract] [Full Text] [Related]

  • 35. Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain.
    Vernengo L, Chourbagi O, Panuncio A, Lilienbaum A, Batonnet-Pichon S, Bruston F, Rodrigues-Lima F, Mesa R, Pizzarossa C, Demay L, Richard P, Vicart P, Rodriguez MM.
    Neuromuscul Disord; 2010 Mar 01; 20(3):178-87. PubMed ID: 20133133
    [Abstract] [Full Text] [Related]

  • 36. Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.
    Muntoni F, Bonne G, Goldfarb LG, Mercuri E, Piercy RJ, Burke M, Yaou RB, Richard P, Récan D, Shatunov A, Sewry CA, Brown SC.
    Brain; 2006 May 01; 129(Pt 5):1260-8. PubMed ID: 16585054
    [Abstract] [Full Text] [Related]

  • 37. 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 01; 16(8):498-503. PubMed ID: 16806931
    [Abstract] [Full Text] [Related]

  • 38. Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genes.
    Kostera-Pruszczyk A, Goudeau B, Ferreiro A, Richard P, Simon S, Vicart P, Fidzianska A.
    Neuromuscul Disord; 2006 Nov 01; 16(11):759-62. PubMed ID: 17005401
    [Abstract] [Full Text] [Related]

  • 39. Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.
    Avila-Smirnow D, Gueneau L, Batonnet-Pichon S, Delort F, Bécane HM, Claeys K, Beuvin M, Goudeau B, Jais JP, Nelson I, Richard P, Ben Yaou R, Romero NB, Wahbi K, Mathis S, Voit T, Furst D, van der Ven P, Gil R, Vicart P, Fardeau M, Bonne G, Behin A.
    Rev Neurol (Paris); 2016 Oct 01; 172(10):594-606. PubMed ID: 27633507
    [Abstract] [Full Text] [Related]

  • 40. Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
    Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M.
    Brain; 2007 Dec 01; 130(Pt 12):3250-64. PubMed ID: 18055494
    [Abstract] [Full Text] [Related]

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