163 related articles for article (PubMed ID: 27165443)
1. First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations.
Sato R; Inui T; Endo W; Okubo Y; Takezawa Y; Anzai M; Morita H; Saitsu H; Matsumoto N; Haginoya K
Brain Dev; 2016 Oct; 38(9):852-6. PubMed ID: 27165443
[TBL] [Abstract][Full Text] [Related]
2. A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report.
Sun G; Yao F; Tian Z; Ma T; Yang Z
BMC Med Genet; 2018 Oct; 19(1):177. PubMed ID: 30285654
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.
Chin JJ; Behnam B; Davids M; Sharma P; Zein WM; Wang C; Chepa-Lotrea X; Gallantine WB; Toro C; Adams DR; Tifft CJ; Gahl WA; Malicdan MCV
Mol Genet Metab; 2019 Feb; 126(2):188-195. PubMed ID: 30528883
[TBL] [Abstract][Full Text] [Related]
6. A murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human disease.
Morgan JP; Magee H; Wong A; Nelson T; Koch B; Cooper JD; Weimer JM
PLoS One; 2013; 8(11):e78694. PubMed ID: 24223841
[TBL] [Abstract][Full Text] [Related]
7. Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.
Badilla-Porras R; Echeverri-McCandless A; Weimer JM; Ulate-Campos A; Soto-Rodríguez A; Gutiérrez-Mata A; Hernández-Con L; Bogantes-Ledezma S; Balmaceda-Meza A; Brudvig J; Sanabria-Castro A
Orphanet J Rare Dis; 2022 Jan; 17(1):13. PubMed ID: 35012600
[TBL] [Abstract][Full Text] [Related]
8. Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Berkovic SF; Oliver KL; Canafoglia L; Krieger P; Damiano JA; Hildebrand MS; Morbin M; Vears DF; Sofia V; Giuliano L; Garavaglia B; Simonati A; Santorelli FM; Gambardella A; Labate A; Belcastro V; Castellotti B; Ozkara C; Zeman A; Rankin J; Mole SE; Aguglia U; Farrell M; Rajagopalan S; McDougall A; Brammah S; Andermann F; Andermann E; Dahl HM; Franceschetti S; Carpenter S
Brain; 2019 Jan; 142(1):59-69. PubMed ID: 30561534
[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. CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.
Bouhouche A; Regragui W; El Fahime E; Bouslam N; Tazi-Ahnini R; Melloul M; Benomar A; Yahyaoui M
Indian J Pediatr; 2013 Aug; 80(8):694-6. PubMed ID: 23180398
[TBL] [Abstract][Full Text] [Related]
11. 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; 9(10):e109576. PubMed ID: 25333361
[TBL] [Abstract][Full Text] [Related]
12. Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2.
Benedict JW; Getty AL; Wishart TM; Gillingwater TH; Pearce DA
J Neurosci Res; 2009 Jul; 87(9):2157-66. PubMed ID: 19235893
[TBL] [Abstract][Full Text] [Related]
13. The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.
Wheeler RB; Sharp JD; Schultz RA; Joslin JM; Williams RE; Mole SE
Am J Hum Genet; 2002 Feb; 70(2):537-42. PubMed ID: 11727201
[TBL] [Abstract][Full Text] [Related]
14. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
Arsov T; Smith KR; Damiano J; Franceschetti S; Canafoglia L; Bromhead CJ; Andermann E; Vears DF; Cossette P; Rajagopalan S; McDougall A; Sofia V; Farrell M; Aguglia U; Zini A; Meletti S; Morbin M; Mullen S; Andermann F; Mole SE; Bahlo M; Berkovic SF
Am J Hum Genet; 2011 May; 88(5):566-73. PubMed ID: 21549341
[TBL] [Abstract][Full Text] [Related]
15. Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.
Katata Y; Uematsu M; Sato H; Suzuki S; Nakayama T; Kubota Y; Kobayashi T; Hino-Fukuyo N; Saitsu H; Kure S
Brain Dev; 2016 Mar; 38(3):341-5. PubMed ID: 26443629
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.
Siintola E; Topcu M; Aula N; Lohi H; Minassian BA; Paterson AD; Liu XQ; Wilson C; Lahtinen U; Anttonen AK; Lehesjoki AE
Am J Hum Genet; 2007 Jul; 81(1):136-46. PubMed ID: 17564970
[TBL] [Abstract][Full Text] [Related]
18. A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report.
Kozina AA; Okuneva EG; Baryshnikova NV; Krasnenko AY; Tsukanov KY; Klimchuk OI; Kondakova OB; Larionova AN; Batysheva TT; Surkova EI; Shatalov PA; Ilinsky VV
BMC Med Genet; 2018 Aug; 19(1):151. PubMed ID: 30144815
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.
Rus CM; Weissensteiner T; Pereira C; Susnea I; Danquah BD; Morales Torres G; Rocha ME; Cozma C; Saravanakumar D; Mannepalli S; Kandaswamy KK; Di Bucchianico S; Zimmermann R; Rolfs A; Bauer P; Beetz C
Orphanet J Rare Dis; 2022 May; 17(1):179. PubMed ID: 35505348
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
