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Journal Abstract Search

255 related items for PubMed ID: 24556424

  • 21. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
    Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E.
    Neurology; 2009 May 26; 72(21):1802-9. PubMed ID: 19299310
    [Abstract] [Full Text] [Related]

  • 22. Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
    Geis T, Rödl T, Topaloğlu H, Balci-Hayta B, Hinreiner S, Müller-Felber W, Schoser B, Mehraein Y, Hübner A, Zirn B, Hoopmann M, Reutter H, Mowat D, Schuierer G, Schara U, Hehr U, Kölbel H.
    Orphanet J Rare Dis; 2019 Jul 16; 14(1):179. PubMed ID: 31311558
    [Abstract] [Full Text] [Related]

  • 23. Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies.
    Hu P, Yuan L, Deng H.
    Mutat Res Rev Mutat Res; 2018 Jul 16; 778():45-50. PubMed ID: 30454682
    [Abstract] [Full Text] [Related]

  • 24. Diagnosis and etiology of congenital muscular dystrophy.
    Peat RA, Smith JM, Compton AG, Baker NL, Pace RA, Burkin DJ, Kaufman SJ, Lamandé SR, North KN.
    Neurology; 2008 Jul 29; 71(5):312-21. PubMed ID: 18160674
    [Abstract] [Full Text] [Related]

  • 25. Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations.
    Liu XY, Jin M, Wang ZQ, Wang DN, He JJ, Lin MT, Fu HX, Wang N.
    Chin Med J (Engl); 2016 Jun 20; 129(12):1425-31. PubMed ID: 27270537
    [Abstract] [Full Text] [Related]

  • 26. Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.
    Vajsar J, Baskin B, Swoboda K, Biggar DW, Schachter H, Ray PN.
    Neuromuscul Disord; 2008 Aug 20; 18(8):675-7. PubMed ID: 18640039
    [Abstract] [Full Text] [Related]

  • 27. Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy.
    Martinez HR, Craigen WJ, Ummat M, Adesina AM, Lotze TE, Jefferies JL.
    Eur J Hum Genet; 2014 Apr 20; 22(4):486-91. PubMed ID: 24002165
    [Abstract] [Full Text] [Related]

  • 28. Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation.
    Akasaka-Manya K, Manya H, Endo T.
    Biochem Biophys Res Commun; 2004 Dec 03; 325(1):75-9. PubMed ID: 15522202
    [Abstract] [Full Text] [Related]

  • 29. Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity.
    Manya H, Chiba A, Yoshida A, Wang X, Chiba Y, Jigami Y, Margolis RU, Endo T.
    Proc Natl Acad Sci U S A; 2004 Jan 13; 101(2):500-5. PubMed ID: 14699049
    [Abstract] [Full Text] [Related]

  • 30. Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
    Manya H, Bouchet C, Yanagisawa A, Vuillaumier-Barrot S, Quijano-Roy S, Suzuki Y, Maugenre S, Richard P, Inazu T, Merlini L, Romero NB, Leturcq F, Bezier I, Topaloglu H, Estournet B, Seta N, Endo T, Guicheney P.
    Neuromuscul Disord; 2008 Jan 13; 18(1):45-51. PubMed ID: 17869517
    [Abstract] [Full Text] [Related]

  • 31. Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.
    Hu P, Wu S, Yuan L, Lin Q, Zheng W, Xia H, Xu H, Guan L, Deng H.
    J Cell Mol Med; 2017 Jul 13; 21(7):1388-1393. PubMed ID: 28157257
    [Abstract] [Full Text] [Related]

  • 32. Molecular heterogeneity in fetal forms of type II lissencephaly.
    Bouchet C, Gonzales M, Vuillaumier-Barrot S, Devisme L, Lebizec C, Alanio E, Bazin A, Bessières-Grattagliano B, Bigi N, Blanchet P, Bonneau D, Bonnières M, Carles D, Delahaye S, Fallet-Bianco C, Figarella-Branger D, Gaillard D, Gasser B, Guimiot F, Joubert M, Laurent N, Liprandi A, Loget P, Marcorelles P, Martinovic J, Menez F, Patrier S, Pelluard-Nehmé F, Perez MJ, Rouleau-Dubois C, Triau S, Laquerrière A, Encha-Razavi F, Seta N.
    Hum Mutat; 2007 Oct 13; 28(10):1020-7. PubMed ID: 17559086
    [Abstract] [Full Text] [Related]

  • 33. A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.
    Murakami T, Hayashi YK, Ogawa M, Noguchi S, Campbell KP, Togawa M, Inoue T, Oka A, Ohno K, Nonaka I, Nishino I.
    Brain Dev; 2009 Jun 13; 31(6):465-8. PubMed ID: 18804929
    [Abstract] [Full Text] [Related]

  • 34. Walker-Warburg syndrome.
    Vajsar J, Schachter H.
    Orphanet J Rare Dis; 2006 Aug 03; 1():29. PubMed ID: 16887026
    [Abstract] [Full Text] [Related]

  • 35. Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
    Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F.
    Ann Neurol; 2008 Nov 03; 64(5):573-82. PubMed ID: 19067344
    [Abstract] [Full Text] [Related]

  • 36. Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.
    Nabhan MM, ElKhateeb N, Braun DA, Eun S, Saleem SN, YungGee H, Hildebrandt F, Soliman NA.
    Am J Med Genet A; 2017 Oct 03; 173(10):2697-2702. PubMed ID: 28815891
    [Abstract] [Full Text] [Related]

  • 37. Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
    Song D, Dai Y, Chen X, Fu X, Chang X, Wang N, Zhang C, Yan C, Zheng H, Wu L, Jiang L, Hua Y, Yang H, Wang Z, Dai T, Zhu W, Han C, Yuan Y, Kobayashi K, Toda T, Xiong H.
    Clin Genet; 2021 Mar 03; 99(3):384-395. PubMed ID: 33200426
    [Abstract] [Full Text] [Related]

  • 38. Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.
    Matsumoto H, Hayashi YK, Kim DS, Ogawa M, Murakami T, Noguchi S, Nonaka I, Nakazawa T, Matsuo T, Futagami S, Campbell KP, Nishino I.
    Neuromuscul Disord; 2005 May 03; 15(5):342-8. PubMed ID: 15833426
    [Abstract] [Full Text] [Related]

  • 39. POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy.
    Gan S, Yang H, Xiao T, Pan Z, Wu L.
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2021 Aug 28; 46(8):915-919. PubMed ID: 34565739
    [Abstract] [Full Text] [Related]

  • 40. Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
    Devisme L, Bouchet C, Gonzalès M, Alanio E, Bazin A, Bessières B, Bigi N, Blanchet P, Bonneau D, Bonnières M, Bucourt M, Carles D, Clarisse B, Delahaye S, Fallet-Bianco C, Figarella-Branger D, Gaillard D, Gasser B, Delezoide AL, Guimiot F, Joubert M, Laurent N, Laquerrière A, Liprandi A, Loget P, Marcorelles P, Martinovic J, Menez F, Patrier S, Pelluard F, Perez MJ, Rouleau C, Triau S, Attié-Bitach T, Vuillaumier-Barrot S, Seta N, Encha-Razavi F.
    Brain; 2012 Feb 28; 135(Pt 2):469-82. PubMed ID: 22323514
    [Abstract] [Full Text] [Related]

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