BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

363 related articles for article (PubMed ID: 21447811)

  • 1. Neuronal ceroid lipofuscinosis in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population.
    Al-Kowari MK; Hassan S; El-Said MF; Ben-Omran T; Hedin L; Mole SE; Badii R
    J Child Neurol; 2011 May; 26(5):625-9. PubMed ID: 21447811
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia.
    Al-Muhaizea MA; Al-Hassnan ZN; Chedrawi A
    Pediatr Neurol; 2009 Jul; 41(1):74-6. PubMed ID: 19520283
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.
    Pineda-Trujillo N; Cornejo W; Carrizosa J; Wheeler RB; Múnera S; Valencia A; Agudelo-Arango J; Cogollo A; Anderson G; Bedoya G; Mole SE; Ruíz-Linares A
    Neurology; 2005 Feb; 64(4):740-2. PubMed ID: 15728307
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
    Savukoski M; Klockars T; Holmberg V; Santavuori P; Lander ES; Peltonen L
    Nat Genet; 1998 Jul; 19(3):286-8. PubMed ID: 9662406
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Late-infantile neuronal ceroid lipofuscinosis (CLN2/Jansky-Bielschowsky type) in Oman.
    Koul R; Al-Futaisi A; Ganesh A; Rangnath Bushnarmuth S
    J Child Neurol; 2007 May; 22(5):555-9. PubMed ID: 17690061
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.
    Teixeira CA; Espinola J; Huo L; Kohlschütter J; Persaud Sawin DA; Minassian B; Bessa CJ; Guimarães A; Stephan DA; Sá Miranda MC; MacDonald ME; Ribeiro MG; Boustany RM
    Hum Mutat; 2003 May; 21(5):502-8. PubMed ID: 12673792
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1).
    Salonen T; Järvelä I; Peltonen L; Jalanko A
    Hum Mutat; 2000; 15(3):273-9. PubMed ID: 10679943
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.
    Sharp JD; Wheeler RB; Parker KA; Gardiner RM; Williams RE; Mole SE
    Hum Mutat; 2003 Jul; 22(1):35-42. PubMed ID: 12815591
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.
    Cannelli N; Nardocci N; Cassandrini D; Morbin M; Aiello C; Bugiani M; Criscuolo L; Zara F; Striano P; Granata T; Bertini E; Simonati A; Santorelli FM
    Neuropediatrics; 2007 Feb; 38(1):46-9. PubMed ID: 17607606
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
    Ranta S; Topcu M; Tegelberg S; Tan H; Ustübütün A; Saatci I; Dufke A; Enders H; Pohl K; Alembik Y; Mitchell WA; Mole SE; Lehesjoki AE
    Hum Mutat; 2004 Apr; 23(4):300-5. PubMed ID: 15024724
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
    Reinhardt K; Grapp M; Schlachter K; Brück W; Gärtner J; Steinfeld R
    Clin Genet; 2010 Jan; 77(1):79-85. PubMed ID: 19807737
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.
    Moore SJ; Buckley DJ; MacMillan A; Marshall HD; Steele L; Ray PN; Nawaz Z; Baskin B; Frecker M; Carr SM; Ives E; Parfrey PS
    Clin Genet; 2008 Sep; 74(3):213-22. PubMed ID: 18684116
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs.
    Melville SA; Wilson CL; Chiang CS; Studdert VP; Lingaas F; Wilton AN
    Genomics; 2005 Sep; 86(3):287-94. PubMed ID: 16033706
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.
    Siintola E; Topcu M; Kohlschütter A; Salonen T; Joensuu T; Anttonen AK; Lehesjoki AE
    Clin Genet; 2005 Aug; 68(2):167-73. PubMed ID: 15996215
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis.
    Katz ML; Khan S; Awano T; Shahid SA; Siakotos AN; Johnson GS
    Biochem Biophys Res Commun; 2005 Feb; 327(2):541-7. PubMed ID: 15629147
    [TBL] [Abstract][Full Text] [Related]  

  • 17. CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.
    Xin W; Mullen TE; Kiely R; Min J; Feng X; Cao Y; O'Malley L; Shen Y; Chu-Shore C; Mole SE; Goebel HH; Sims K
    Neurology; 2010 Feb; 74(7):565-71. PubMed ID: 20157158
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.
    Ranta S; Zhang Y; Ross B; Lonka L; Takkunen E; Messer A; Sharp J; Wheeler R; Kusumi K; Mole S; Liu W; Soares MB; Bonaldo MF; Hirvasniemi A; de la Chapelle A; Gilliam TC; Lehesjoki AE
    Nat Genet; 1999 Oct; 23(2):233-6. PubMed ID: 10508524
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
    Aiello C; Terracciano A; Simonati A; Discepoli G; Cannelli N; Claps D; Crow YJ; Bianchi M; Kitzmuller C; Longo D; Tavoni A; Franzoni E; Tessa A; Veneselli E; Boldrini R; Filocamo M; Williams RE; Bertini ES; Biancheri R; Carrozzo R; Mole SE; Santorelli FM
    Hum Mutat; 2009 Mar; 30(3):E530-40. PubMed ID: 19177532
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.