Detalhe da pesquisa
1.
Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3.
PLoS Genet
; 11(1): e1004834, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25590633
2.
Tissue Plasminogen Activator to Treat a Stroke after Foam Sclerotherapy in a Woman with a Patent Foramen Ovale.
J Stroke Cerebrovasc Dis
; 27(6): e110-e112, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29402614
3.
Vertical Gaze Palsy Caused by Selective Unilateral Rostral Midbrain Infarction.
Neuroophthalmology
; 42(5): 309-311, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30258479
4.
Developmentally Regulated RNA-binding Protein 1 (Drb1)/RNA-binding Motif Protein 45 (RBM45), a Nuclear-Cytoplasmic Trafficking Protein, Forms TAR DNA-binding Protein 43 (TDP-43)-mediated Cytoplasmic Aggregates.
J Biol Chem
; 291(29): 14996-5007, 2016 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27226551
5.
Synergistic Antiproliferative Effects of Zoledronic Acid and Fluvastatin on Human Pancreatic Cancer Cell Lines: An in Vitro Study.
Biol Pharm Bull
; 39(8): 1238-46, 2016 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27181081
6.
A lethal intracranial Rosai-Dorfman disease of the brainstem diagnosed at autopsy.
Pathol Int
; 65(10): 549-53, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26184902
7.
LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity.
Neurobiol Dis
; 69: 200-5, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24878509
8.
Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.
Am J Hum Genet
; 89(1): 121-30, 2011 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21683323
9.
Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2.
J Hum Genet
; 59(3): 129-33, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24430576
10.
Unique combination of hyperintense vessel sign on initial FLAIR and delayed vasoconstriction on MRA in reversible cerebral vasoconstriction syndrome: a case report.
Cephalalgia
; 34(13): 1093-6, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24711608
11.
Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour.
Brain
; 136(Pt 3): 957-70, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23404338
12.
Tissue plasminogen activator thrombolytic therapy for acute ischemic stroke in 4 hospital groups in Japan.
J Stroke Cerebrovasc Dis
; 22(3): 190-6, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21968092
13.
First evidence of tick-borne encephalitis (TBE) outside of Hokkaido Island in Japan.
Emerg Microbes Infect
; 12(2): 2278898, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37906509
14.
Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.
Am J Hum Genet
; 85(5): 544-57, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19878914
15.
Effect of mitochondrial transcription factor a overexpression on motor neurons in amyotrophic lateral sclerosis model mice.
J Neurosci Res
; 90(6): 1200-8, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22354563
16.
Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy.
J Hum Genet
; 57(6): 368-74, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22513715
17.
Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome.
Hum Mol Genet
; 18(7): 1229-37, 2009 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19147685
18.
Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8.
Hum Genet
; 130(5): 671-83, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21594610
19.
Disruption of neurovascular unit prior to motor neuron degeneration in amyotrophic lateral sclerosis.
J Neurosci Res
; 89(5): 718-28, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21337372
20.
Neurological and pathological improvements of cerebral infarction in mice with platinum nanoparticles.
J Neurosci Res
; 89(7): 1125-33, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21433052