114 related articles for article (PubMed ID: 20960652)
1. Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant.
Kohan R; Cannelli N; Aiello C; Santorelli FM; Cismondi AI; Milà M; Oller Ramírez AM; Halac IN
Hum Genet; 2008 Jun; 123(5):552. PubMed ID: 20960652
[No Abstract] [Full Text] [Related]
2. Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant.
Cismondi IA; Cannelli N; Aiello C; Santorelli FM; Kohan R; Oller Ramírez AM; Halac IN
Hum Genet; 2008 Jun; 123(5):554. PubMed ID: 20960661
[No Abstract] [Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.
Kopra O; Vesa J; von Schantz C; Manninen T; Minye H; Fabritius AL; Rapola J; van Diggelen OP; Saarela J; Jalanko A; Peltonen L
Hum Mol Genet; 2004 Dec; 13(23):2893-906. PubMed ID: 15459177
[TBL] [Abstract][Full Text] [Related]
8. Lymphocyte inclusions in Finnish-variant late infantile neuronal ceroid lipofuscinosis (CLN5).
Rapola J; Lake BD
Neuropediatrics; 2000 Feb; 31(1):33-4. PubMed ID: 10774993
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
O'Rawe A; Mitchison HM; Williams R; Wheeler R; Andermann E; Andermann F; Hart YM; Martin JJ; Philippart M; Stephenson JB; Gardiner RM; Mole SE
Neuropediatrics; 1997 Feb; 28(1):21-2. PubMed ID: 9151314
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.
Schmiedt ML; Bessa C; Heine C; Ribeiro MG; Jalanko A; Kyttälä A
Hum Mutat; 2010 Mar; 31(3):356-65. PubMed ID: 20052765
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5.
Li W; Fan X; Zhang Y; Huang L; Jiang T; Qin Z; Su J; Luo J; Yi S; Zhang S; Shen Y
BMC Med Genet; 2020 May; 21(1):100. PubMed ID: 32393339
[TBL] [Abstract][Full Text] [Related]
17. Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.
Schulz A; Dhar S; Rylova S; Dbaibo G; Alroy J; Hagel C; Artacho I; Kohlschütter A; Lin S; Boustany RM
Ann Neurol; 2004 Sep; 56(3):342-50. PubMed ID: 15349861
[TBL] [Abstract][Full Text] [Related]
18. Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile.
Cismondi IA; Kohan R; Ghio A; Ramirez AM; Halac IN
Hum Genet; 2008 Oct; 124(3):323-4. PubMed ID: 18846689
[No Abstract] [Full Text] [Related]
19. Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late Infantile.
Cismondi IA; Kohan R; Ghio A; Ramirez AM; Halac IN
Hum Genet; 2008 Oct; 124(3):324. PubMed ID: 18846690
[No 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]
