Detalhe da pesquisa
1.
Time-dependent expression of ryanodine receptors in sea urchin eggs, zygotes and early embryos.
Zygote
; 30(2): 213-216, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34315559
2.
Fungal Planet description sheets: 1284-1382.
Persoonia
; 47: 178-374, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37693795
3.
Fungal Planet description sheets: 1284-1382.
Persoonia
; 47: 178-374, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-38352974
4.
Review: Danon disease: Review of natural history and recent advances.
Neuropathol Appl Neurobiol
; 46(4): 303-322, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31698507
5.
Fungal Planet description sheets: 1112-1181.
Persoonia
; 45: 251-409, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34456379
6.
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).
Neuropathol Appl Neurobiol
; 44(5): 449-462, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28574618
7.
Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM.
Mol Genet Metab
; 121(1): 28-34, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28391974
8.
European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.
Eur J Neurol
; 24(6): 768-e31, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28477382
9.
Cerebral venous thrombosis at high altitude: A systematic review.
Rev Neurol (Paris)
; 173(4): 189-193, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28038774
10.
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.
J Neurol Neurosurg Psychiatry
; 87(1): 5-11, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25783438
11.
MicroRNA signatures predict dysregulated vitamin D receptor and calcium pathways status in limb girdle muscle dystrophies (LGMD) 2A/2B.
Cell Biochem Funct
; 34(6): 414-22, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27558075
12.
First Observation of CP Violation in B[over ¯]
Phys Rev Lett
; 115(12): 121604, 2015 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26430984
13.
Muscle atrophy in Limb Girdle Muscular Dystrophy 2A: a morphometric and molecular study.
Neuropathol Appl Neurobiol
; 39(7): 762-71, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23414389
14.
EFNS review on the role of muscle biopsy in the investigation of myalgia.
Eur J Neurol
; 20(7): 997-1005, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23627674
15.
Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex.
Nat Genet
; 11(3): 266-73, 1995 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-7581449
16.
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
Nat Genet
; 20(1): 31-6, 1998 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-9731526
17.
Prognostic role and interaction of TERT promoter status, telomere length and MGMT promoter methylation in newly diagnosed IDH wild-type glioblastoma patients.
ESMO Open
; 8(3): 101570, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37230028
18.
Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues.
Neurobiol Dis
; 45(1): 264-71, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21872659
19.
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.
Clin Genet
; 82(3): 232-9, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21913903
20.
CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis.
Eur J Neurol
; 19(10): 1373-5, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22233359