BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

317 related articles for article (PubMed ID: 15389993)

  • 21. Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis.
    Sperb F; Vairo F; Burin M; Mayer FQ; Matte U; Giugliani R
    Gene; 2013 Jan; 512(1):113-6. PubMed ID: 23046582
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Dystonia as the major manifestation of Leigh's syndrome.
    Lera G; Bhatia K; Marsden CD
    Mov Disord; 1994 Nov; 9(6):642-9. PubMed ID: 7845405
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [Juvenile-onset dystonia with bilateral atrophy of the basal ganglia on MRI].
    Terao Y; Hashimoto K; Chiba A; Inoue K; Mannen T
    Rinsho Shinkeigaku; 1991 Sep; 31(9):1010-4. PubMed ID: 1769149
    [TBL] [Abstract][Full Text] [Related]  

  • 24. GM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra.
    Vieira JP; Conceição C; Scortenschi E
    Pediatr Neurol; 2013 Sep; 49(3):195-7. PubMed ID: 23831247
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Tourettism, hemiballism and juvenile Parkinsonism: expanding the clinical spectrum of the neurodegeneration associated to pantothenate kinase deficiency (Hallervorden Spatz syndrome)].
    Carod-Artal FJ; Vargas AP; Marinho PB; Fernandes-Silva TV; Portugal D
    Rev Neurol; 2004 Feb 16-29; 38(4):327-31. PubMed ID: 14997456
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [The role of ophthalmological examination in the diagnosis of gangliosidosis GM1].
    Krzywińska-Zdeb E; Gizewska M; Modrzejewska M; Romanowska H; Stecewicz I; Pawłowska A; Tuziak M; Walczak M
    Klin Oczna; 2011; 113(7-9):266-9. PubMed ID: 22256571
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Basal ganglia infarction as a possible cause of cervical dystonia.
    Molho ES; Factor SA
    Mov Disord; 1993 Apr; 8(2):213-6. PubMed ID: 8474493
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.
    Karimzadeh P; Naderi S; Modarresi F; Dastsooz H; Nemati H; Farokhashtiani T; Shamsian BS; Inaloo S; Faghihi MA
    BMC Med Genet; 2017 Jul; 18(1):73. PubMed ID: 28716012
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [The metabolism of radiolabelled GM1-ganglioside in cultured skin fibroblasts from controls and patients with GM1-gangliosidosis].
    Inui K
    Nihon Rinsho; 1995 Dec; 53(12):3102-4. PubMed ID: 8577066
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis.
    Gort L; Santamaria R; Grinberg D; Vilageliu L; Chabás A
    Clin Genet; 2007 Aug; 72(2):109-11. PubMed ID: 17661814
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis.
    Brunetti-Pierri N; Bhattacharjee MB; Wang ZJ; Zili Chu ; Wenger DA; Potocki L; Hunter J; Scaglia F
    J Child Neurol; 2008 Jan; 23(1):73-8. PubMed ID: 18184943
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Late-infantile GM1 gangliosidosis: A case report.
    Noh ES; Park HM; Kim MS; Park HD; Cho SY; Jin DK
    Medicine (Baltimore); 2022 Jan; 101(1):e28435. PubMed ID: 35029890
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.
    Santamaria R; Blanco M; Chabás A; Grinberg D; Vilageliu L
    Clin Genet; 2007 Mar; 71(3):273-9. PubMed ID: 17309651
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [A family of hereditary spastic paraplegia with dementia, ataxia, and dystonia].
    Maruta K; Kondo I
    Rinsho Shinkeigaku; 2001 Oct; 41(10):683-90. PubMed ID: 11993189
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Diagnosis of feline GM1 gangliosidosis by enzyme assay of cultured conjunctival cells.
    Nowakowski RW; Thompson JN; Baker HJ
    Invest Ophthalmol Vis Sci; 1988 Mar; 29(3):487-90. PubMed ID: 3125124
    [TBL] [Abstract][Full Text] [Related]  

  • 36. GM1 gangliosidosis type 2 in two siblings.
    Gascon GG; Ozand PT; Erwin RE
    J Child Neurol; 1992 Apr; 7 Suppl():S41-50. PubMed ID: 1588015
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Mongolian spots in GM1 gangliosidosis: a pictorial report.
    Mishra S; Pai P; Uttarilli A; Girisha KM
    Clin Dysmorphol; 2021 Jan; 30(1):6-9. PubMed ID: 33038107
    [TBL] [Abstract][Full Text] [Related]  

  • 38. The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
    Arash-Kaps L; Komlosi K; Seegräber M; Diederich S; Paschke E; Amraoui Y; Beblo S; Dieckmann A; Smitka M; Hennermann JB
    J Pediatr; 2019 Dec; 215():152-157.e3. PubMed ID: 31761138
    [TBL] [Abstract][Full Text] [Related]  

  • 39. The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient.
    Caciotti A; Donati MA; d'Azzo A; Salvioli R; Guerrini R; Zammarchi E; Morrone A
    Eur J Paediatr Neurol; 2009 Mar; 13(2):160-4. PubMed ID: 18571950
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosis.
    Brunetti-Pierri N; Mian A; Luetchke R; Graham BH
    J Inherit Metab Dis; 2007 Oct; 30(5):823. PubMed ID: 17712606
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 16.