Detalhe da pesquisa
1.
Differential isoform expression and selective muscle involvement in muscular dystrophies.
Am J Pathol
; 185(10): 2833-42, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26269091
2.
Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions.
Am J Pathol
; 184(8): 2322-32, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24907641
3.
Atypical phenotypes in titinopathies explained by second titin mutations.
Ann Neurol
; 75(2): 230-40, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24395473
4.
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
Am J Hum Genet
; 88(6): 729-740, 2011 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21620354
5.
Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2.
Am J Pathol
; 177(6): 3025-36, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20971734
6.
Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.
Brain
; 133(Pt 5): 1451-9, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20418530
7.
Novel myosin heavy chain immunohistochemical double staining developed for the routine diagnostic separation of I, IIA and IIX fibers.
Acta Neuropathol
; 119(4): 495-500, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20107819
8.
Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.
Acta Neuropathol
; 119(4): 465-79, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20066428
9.
The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy.
J Neurol Neurosurg Psychiatry
; 81(8): 834-9, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20682716
10.
Cytoplasmic LRIG2 expression is associated with poor oligodendroglioma patient survival.
Neuropathology
; 29(3): 242-7, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18992012
11.
Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders.
PLoS One
; 11(3): e0151376, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26999347
12.
Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D.
Acta Neuropathol Commun
; 4: 9, 2016 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26847086
13.
PP2A Inhibitor PME-1 Drives Kinase Inhibitor Resistance in Glioma Cells.
Cancer Res
; 76(23): 7001-7011, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27671680
14.
Characterization of a novel cell line established from a patient with Herceptin-resistant breast cancer.
Mol Cancer Ther
; 3(12): 1585-92, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15634652
15.
Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy.
PLoS One
; 9(3): e90819, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24618559
16.
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
Eur J Hum Genet
; 22(6): 801-8, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24193343
17.
Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies.
Neuromuscul Disord
; 24(3): 227-40, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24332166
18.
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2.
J Neurol
; 259(10): 2090-9, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22407275
19.
New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics.
Neurology
; 79(22): 2194-200, 2012 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-23152584
20.
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.
Nat Genet
; 44(4): 450-5, S1-2, 2012 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22366786