These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

141 related articles for article (PubMed ID: 22675082)

  • 1. Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.
    Pierson TM; Adams DA; Markello T; Golas G; Yang S; Sincan M; Simeonov DR; Fuentes Fajardo K; Hansen NF; Cherukuri PF; Cruz P; Teer JK; Mullikin JC; ; Boerkoel CF; Gahl WA; Tifft CJ
    Neurology; 2012 Jul; 79(2):123-6. PubMed ID: 22675082
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.
    Lee JS; Choi JM; Lee M; Kim SY; Lee S; Lim BC; Cheon JE; Kim IO; Kim KJ; Choi M; Seong MW; Chae JH
    Brain Dev; 2018 May; 40(5):383-390. PubMed ID: 29439846
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis.
    Takenouchi T; Kosaki R; Nakabayashi K; Hata K; Takahashi T; Kosaki K
    Pediatr Neurol; 2015 Feb; 52(2):226-9. PubMed ID: 25443580
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.
    Myers KA; Bennett MF; Chow CW; Carden SM; Mandelstam SA; Bahlo M; Scheffer IE
    Am J Med Genet A; 2018 Jan; 176(1):230-234. PubMed ID: 29160035
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Genetic and clinical analysis of a novel GLB1 gene variant in a Chinese patient with GM1-gangliosidosis].
    Cheng S; Wang Q; Chen A; Zhou L; Hong X; Yuan H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 May; 39(5):537-541. PubMed ID: 35598274
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.
    Santamaria R; Chabás A; Coll MJ; Miranda CS; Vilageliu L; Grinberg D
    Hum Mutat; 2006 Oct; 27(10):1060. PubMed ID: 16941474
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing.
    Bouhouche A; Tibar H; Kriouale Y; Jiddane M; Smaili I; Bouslam N; Benomar A; Yahyaoui M; El Fahime E
    Case Rep Genet; 2018; 2018():8635698. PubMed ID: 30581635
    [TBL] [Abstract][Full Text] [Related]  

  • 10. GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
    Hofer D; Paul K; Fantur K; Beck M; Bürger F; Caillaud C; Fumic K; Ledvinova J; Lugowska A; Michelakakis H; Radeva B; Ramaswami U; Plecko B; Paschke E
    Hum Mutat; 2009 Aug; 30(8):1214-21. PubMed ID: 19472408
    [TBL] [Abstract][Full Text] [Related]  

  • 11. GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.
    Caciotti A; Donati MA; Procopio E; Filocamo M; Kleijer W; Wuyts W; Blaumeiser B; d'Azzo A; Simi L; Orlando C; McKenzie F; Fiumara A; Zammarchi E; Morrone A
    Hum Mutat; 2007 Feb; 28(2):204. PubMed ID: 17221873
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
    Hofer D; Paul K; Fantur K; Beck M; Roubergue A; Vellodi A; Poorthuis BJ; Michelakakis H; Plecko B; Paschke E
    Clin Genet; 2010 Sep; 78(3):236-46. PubMed ID: 20175788
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genomic medicine enters the neurology clinic.
    Coppola G; Geschwind DH
    Neurology; 2012 Jul; 79(2):112-4. PubMed ID: 22675078
    [No Abstract]   [Full Text] [Related]  

  • 16. An autopsy case of G
    Uchino A; Nagai M; Kanazawa N; Ichinoe M; Yanagisawa N; Adachi K; Nanba E; Ishiura H; Mitsui J; Tsuji S; Suzuki K; Murayama S; Nishiyama K
    Neuropathology; 2020 Aug; 40(4):379-388. PubMed ID: 32219895
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.
    Deodato F; Procopio E; Rampazzo A; Taurisano R; Donati MA; Dionisi-Vici C; Caciotti A; Morrone A; Scarpa M
    Metab Brain Dis; 2017 Oct; 32(5):1529-1536. PubMed ID: 28577204
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.
    Richter JE; Zimmermann MT; Blackburn PR; Mohammad AN; Klee EW; Pollard LM; Macmurdo CF; Atwal PS; Caulfield TR
    Mol Genet Genomic Med; 2018 Nov; 6(6):1229-1235. PubMed ID: 30187681
    [TBL] [Abstract][Full Text] [Related]  

  • 19. MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.
    Regier DS; Kwon HJ; Johnston J; Golas G; Yang S; Wiggs E; Latour Y; Thomas S; Portner C; Adams D; Vezina G; Baker EH; Tifft CJ
    Am J Med Genet A; 2016 Mar; 170(3):634-44. PubMed ID: 26646981
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis.
    Lei HL; Ye J; Qiu WJ; Zhang HW; Han LS; Wang Y; Gu XF
    World J Pediatr; 2012 Nov; 8(4):359-62. PubMed ID: 23151865
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.