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Journal Abstract Search

254 related items for PubMed ID: 20157158

  • 41. Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis.
    Ge L, Li HY, Hai Y, Min L, Xing L, Min J, Shu HX, Mei OY, Hua L.
    J Child Neurol; 2018 Nov; 33(13):837-850. PubMed ID: 30264640
    [Abstract] [Full Text] [Related]

  • 42. Strategy for mutation detection in CLN3: characterisation of two Finnish mutations.
    Munroe PB, O'Rawe AM, Mitchison HM, Järvelä IE, Santavuori P, Lerner TJ, Taschner PE, Gardiner RM, Mole SE.
    Neuropediatrics; 1997 Feb; 28(1):15-7. PubMed ID: 9151312
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  • 43. Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs.
    Goldberg-Stern H, Halevi A, Marom D, Straussberg R, Mimouni-Bloch A.
    Pediatr Neurol; 2009 Oct; 41(4):297-300. PubMed ID: 19748052
    [Abstract] [Full Text] [Related]

  • 44. Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations.
    Wisniewski KE, Kaczmarski A, Kida E, Connell F, Kaczmarski W, Michalewski MP, Moroziewicz DN, Zhong N.
    Mol Genet Metab; 1999 Apr; 66(4):248-52. PubMed ID: 10191110
    [Abstract] [Full Text] [Related]

  • 45. Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.
    Simonati A, Williams RE, Nardocci N, Laine M, Battini R, Schulz A, Garavaglia B, Moro F, Pezzini F, Santorelli FM.
    Dev Med Child Neurol; 2017 Aug; 59(8):815-821. PubMed ID: 28542837
    [Abstract] [Full Text] [Related]

  • 46. Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
    Mole SE, Mitchison HM, Munroe PB.
    Hum Mutat; 1999 Aug; 14(3):199-215. PubMed ID: 10477428
    [Abstract] [Full Text] [Related]

  • 47. A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs.
    Villani NA, Bullock G, Michaels JR, Yamato O, O'Brien DP, Mhlanga-Mutangadura T, Johnson GS, Katz ML.
    Mol Genet Metab; 2019 May; 127(1):107-115. PubMed ID: 31101435
    [Abstract] [Full Text] [Related]

  • 48. Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics.
    Shacka JJ.
    Brain Res Bull; 2012 May 01; 88(1):43-57. PubMed ID: 22502604
    [Abstract] [Full Text] [Related]

  • 49. From locus to cellular disturbances: positional cloning of the infantile neuronal ceroid lipofuscinosis gene.
    Hellsten E, Vesa J, Jalanko A, Peltonen L.
    Neuropediatrics; 1997 Feb 01; 28(1):9-11. PubMed ID: 9151310
    [Abstract] [Full Text] [Related]

  • 50. Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses.
    Uusi-Rauva K, Blom T, von Schantz-Fant C, Blom T, Jalanko A, Kyttälä A.
    Int J Mol Sci; 2017 May 01; 18(5):. PubMed ID: 28468312
    [Abstract] [Full Text] [Related]

  • 51. Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.
    Lebrun AH, Storch S, Rüschendorf F, Schmiedt ML, Kyttälä A, Mole SE, Kitzmüller C, Saar K, Mewasingh LD, Boda V, Kohlschütter A, Ullrich K, Braulke T, Schulz A.
    Hum Mutat; 2009 May 01; 30(5):E651-61. PubMed ID: 19309691
    [Abstract] [Full Text] [Related]

  • 52. The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function.
    Parvin S, Rezazadeh M, Hosseinzadeh H, Moradi M, Shiva S, Gharesouran J.
    Neuromolecular Med; 2019 Jun 01; 21(2):160-169. PubMed ID: 30919163
    [Abstract] [Full Text] [Related]

  • 53. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
    Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA, Elleder M, Mole SE, Lehesjoki AE.
    Brain; 2009 Mar 01; 132(Pt 3):810-9. PubMed ID: 19201763
    [Abstract] [Full Text] [Related]

  • 54. A novel CLN5 mutation in Turkish patient with variant late-onset neuronal ceroid lipofuscinosis and recurrent fractures that causes severe morbidity.
    Duz MB.
    Neurocase; 2021 Dec 01; 27(6):437-440. PubMed ID: 34678132
    [Abstract] [Full Text] [Related]

  • 55. Batten disease in the west of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits.
    Crow YJ, Tolmie JL, Howatson AG, Patrick WJ, Stephenson JB.
    Neuropediatrics; 1997 Jun 01; 28(3):140-4. PubMed ID: 9266550
    [Abstract] [Full Text] [Related]

  • 56. Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene.
    Houweling PJ, Cavanagh JA, Palmer DN, Frugier T, Mitchell NL, Windsor PA, Raadsma HW, Tammen I.
    Biochim Biophys Acta; 2006 Oct 01; 1762(10):890-7. PubMed ID: 16935476
    [Abstract] [Full Text] [Related]

  • 57. Pheno/genotypic correlations of neuronal ceroid lipofuscinoses.
    Wisniewski KE, Zhong N, Philippart M.
    Neurology; 2001 Aug 28; 57(4):576-81. PubMed ID: 11548735
    [Abstract] [Full Text] [Related]

  • 58. Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
    Larkin H, Ribeiro MG, Lavoie C.
    Hum Mutat; 2013 Dec 28; 34(12):1688-97. PubMed ID: 24038957
    [Abstract] [Full Text] [Related]

  • 59. Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.
    Patiño LC, Battu R, Ortega-Recalde O, Nallathambi J, Anandula VR, Renukaradhya U, Laissue P.
    PLoS One; 2014 Dec 28; 9(10):e109576. PubMed ID: 25333361
    [Abstract] [Full Text] [Related]

  • 60. Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses.
    Mole SE.
    J Inherit Metab Dis; 1996 Dec 28; 19(3):269-74. PubMed ID: 8803767
    [Abstract] [Full Text] [Related]

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