Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells.
Proc Natl Acad Sci U S A
; 107(4): 1571-5, 2010 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-20080599
13.
Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa.
Mol Genet Metab
; 107(3): 456-61, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23031366
14.
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.
BMC Med Genet
; 13: 50, 2012 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-22727047
15.
Norrie disease: extraocular clinical manifestations in 56 patients.
Am J Med Genet A
; 158A(8): 1909-17, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22786811
16.
SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.
Amyotroph Lateral Scler
; 13(2): 217-22, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22292843
17.
Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel.
BMC Neurol
; 11: 61, 2011 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-21619592
18.
Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4.
J Med Genet
; 47(11): 786-90, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20679667
19.
Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology.
Mol Cell Proteomics
; 8(7): 1708-18, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19383612
20.
New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman disease).
J Pediatr Gastroenterol Nutr
; 60(3): e22-4, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24048164