Detalhe da pesquisa
1.
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Cell
; 149(3): 525-37, 2012 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-22521361
2.
A case of juvenile CLN1- challenge in diagnosis and epilepsy treatment.
Neurocase
; 27(2): 165-168, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33849402
3.
OsARF11 Promotes Growth, Meristem, Seed, and Vein Formation during Rice Plant Development.
Int J Mol Sci
; 22(8)2021 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33920962
4.
Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers.
J Proteome Res
; 16(10): 3787-3804, 2017 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28792770
5.
Activation of peroxisome proliferator-activated receptor α induces lysosomal biogenesis in brain cells: implications for lysosomal storage disorders.
J Biol Chem
; 290(16): 10309-24, 2015 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-25750174
6.
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.
Biochim Biophys Acta
; 1852(10 Pt B): 2301-11, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25976102
7.
Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.
Hum Mol Genet
; 23(8): 2005-22, 2014 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24271013
8.
Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry.
Mol Genet Metab
; 119(1-2): 151-9, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27510433
9.
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
10.
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
Am J Hum Genet
; 91(1): 202-8, 2012 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22748208
11.
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
12.
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Genet Med
; 17(4): 253-261, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25412400
13.
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Genet Med
; 17(9): 689-701, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25503498
14.
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
15.
Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.
BMC Med Genet
; 15: 30, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24602372
16.
Enzyme replacement therapy stabilized white matter lesion progression in Fabry disease.
Cerebrovasc Dis
; 38(6): 448-56, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25502511
17.
Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stress.
Angiogenesis
; 16(2): 387-404, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23143660
18.
Analysis of left ventricular mass in untreated men and in men treated with agalsidase-ß: data from the Fabry Registry.
Genet Med
; 15(12): 958-65, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23703683
19.
Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.
Curr Neurol Neurosci Rep
; 13(8): 366, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23775425
20.
Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.
J Genet Couns
; 22(5): 555-64, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23860966