Detalhe da pesquisa
1.
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Ann Neurol
; 84(5): 766-780, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30295347
2.
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
3.
Human pathology in NCL.
Biochim Biophys Acta
; 1832(11): 1807-26, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23200925
4.
mTOR-dependent abnormalities in autophagy characterize human malformations of cortical development: evidence from focal cortical dysplasia and tuberous sclerosis.
Acta Neuropathol
; 126(2): 207-18, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23728790
5.
Neuropathology of neurocutaneous melanosis: histological foci of melanotic neurones and glia may be undetectable on MRI.
Acta Neuropathol
; 123(3): 453-6, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22294043
6.
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.
JAMA Ophthalmol
; 135(7): 749-760, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28542676
7.
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).
Neurology
; 87(6): 579-84, 2016 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27412140