Detalhe da pesquisa
1.
The Batten disease protein CLN3 is important for stress granules dynamics and translational activity.
J Biol Chem
; 299(5): 104649, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36965618
2.
Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease.
Hum Mol Genet
; 28(23): 3867-3879, 2019 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31807779
3.
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.
J Paediatr Child Health
; 57(4): 519-525, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33377563
4.
Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation.
Hum Mol Genet
; 27(10): 1711-1722, 2018 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29514215
5.
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Brain
; 142(1): 59-69, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561534
6.
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
Hum Mutat
; 40(11): 1924-1938, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31283065
7.
Prevention of Photoreceptor Cell Loss in a Cln6nclf Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells.
Mol Ther
; 26(5): 1343-1353, 2018 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29606505
8.
Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal Ceroid Lipofuscinoses.
Adv Exp Med Biol
; 1074: 91-99, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29721932
9.
NCLs and ER: A stressful relationship.
Biochim Biophys Acta Mol Basis Dis
; 1863(6): 1273-1281, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28390949
10.
Genetics of the neuronal ceroid lipofuscinoses (Batten disease).
Biochim Biophys Acta
; 1852(10 Pt B): 2237-41, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26026925
11.
Future perspectives: Moving towards NCL treatments.
Biochim Biophys Acta
; 1852(10 Pt B): 2336-8, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25857620
12.
Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder.
Biochim Biophys Acta
; 1852(10 Pt B): 2316-23, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26117801
13.
The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?
J Neurosci Res
; 94(4): 339-47, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26762174
14.
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
Mol Genet Metab
; 119(1-2): 160-7, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27553878
15.
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
Hum Mol Genet
; 22(7): 1417-23, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23297359
16.
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.
Am J Hum Genet
; 90(6): 1102-7, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22608501
17.
Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.
Biochim Biophys Acta
; 1832(11): 1827-30, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23542453
18.
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.
Hum Mol Genet
; 21(12): 2646-50, 2012 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22388936
19.
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
Am J Hum Genet
; 88(5): 566-73, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21549341
20.
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.
Am J Hum Genet
; 89(2): 241-52, 2011 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21820099