Detalhe da pesquisa
1.
Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D.
Hum Mol Genet
; 23(14): 3746-58, 2014 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24565866
2.
Progress and challenges in diagnosis of dysferlinopathy.
Muscle Nerve
; 54(5): 821-835, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27501525
3.
Next generation sequencing detection of late onset pompe disease.
Muscle Nerve
; 53(6): 981-3, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26800218
4.
Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.
Muscle Nerve
; 52(2): 163-73, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900067
5.
Muscle atrophy, ubiquitin-proteasome, and autophagic pathways in dysferlinopathy.
Muscle Nerve
; 50(3): 340-7, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24395438
6.
Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy.
Acta Myol
; 33(3): 119-26, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25873780
7.
Gender difference in limb-girdle muscular dystrophy: a muscle fiber morphometric study in 101 patients.
Clin Neuropathol
; 33(3): 179-85, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24618072
8.
TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle.
J Pathol
; 228(2): 251-9, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22431140
9.
Ultrastructural changes in LGMD1F.
Neuropathology
; 33(3): 276-80, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23279333
11.
Transcriptional and translational effects of intronic CAPN3 gene mutations.
Hum Mutat
; 31(9): E1658-69, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20635405
12.
Impaired autophagy affects acid α-glucosidase processing and enzyme replacement therapy efficacy in late-onset glycogen storage disease type II.
Neuropathol Appl Neurobiol
; 41(5): 672-5, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25559662
13.
Familial polyglucosan body myopathy with unusual phenotype.
Neuropathol Appl Neurobiol
; 41(3): 385-90, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25041762
14.
Dominant muscular dystrophy with a novel SYNE1 gene mutation.
Muscle Nerve
; 51(1): 145-7, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25091525
15.
Incomplete penetrance in limb-girdle muscular dystrophy type 1F.
Muscle Nerve
; 52(2): 305-6, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25487718
16.
Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report.
J Inherit Metab Dis
; 33 Suppl 3: S389-93, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20830524
17.
The role of ultrastructural examination in storage diseases.
Ultrastruct Pathol
; 34(5): 243-51, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20568989
18.
Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course?
J Neuropathol Exp Neurol
; 68(4): 383-90, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19287313
19.
Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy.
BMC Med
; 7: 14, 2009 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-19351384
20.
Inhibition of proteasome activity promotes the correct localization of disease-causing alpha-sarcoglycan mutants in HEK-293 cells constitutively expressing beta-, gamma-, and delta-sarcoglycan.
Am J Pathol
; 173(1): 170-81, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18535179