Detalhe da pesquisa
1.
Successful treatment of scleromyxoedema with daratumumab.
Br J Haematol
; 2024 Mar 12.
Artigo
Inglês
| MEDLINE | ID: mdl-38471663
2.
Pregnancy in Wilson's disease: Management and outcome.
Hepatology
; 67(4): 1261-1269, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-28859232
3.
Effects of copper toxicity on response inhibition processes: a study in Wilson's disease.
Arch Toxicol
; 90(7): 1623-30, 2016 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-26438404
4.
Evaluation of heart involvement in calpainopathy (LGMD2A) using cardiovascular magnetic resonance.
Muscle Nerve
; 52(4): 661-3, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26032656
5.
Hepatobiliary malignancies in Wilson disease.
Liver Int
; 35(5): 1615-22, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25369181
6.
The diagnostic value of midbrain hyperechogenicity in ALS is limited for discriminating key ALS differential diagnoses.
BMC Neurol
; 15: 33, 2015 Mar 14.
Artigo
Inglês
| MEDLINE | ID: mdl-25879789
7.
Chronic endoplasmic reticulum stress in myotonic dystrophy type 2 promotes autoimmunity via mitochondrial DNA release.
Nat Commun
; 15(1): 1534, 2024 Feb 20.
Artigo
Inglês
| MEDLINE | ID: mdl-38378748
8.
Efficacy and safety of oral chelators in treatment of patients with Wilson disease.
Clin Gastroenterol Hepatol
; 11(8): 1028-35.e1-2, 2013 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-23542331
9.
Olfactory function in patients with and without temporal lobe resection.
Epilepsy Behav
; 25(4): 477-80, 2012 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-23153710
10.
Vocal cord paralysis and rapid progressive motor neuron disease by the I113F mutation in SOD1 gene.
Amyotroph Lateral Scler
; 12(5): 382-4, 2011 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-21413851
11.
Alterations of lipid metabolism in Wilson disease.
Lipids Health Dis
; 10: 83, 2011 May 19.
Artigo
Inglês
| MEDLINE | ID: mdl-21595966
12.
Evaluation of Myocardial Strain Using Cardiac Magnetic Resonance in Patients with Wilson's Disease.
J Clin Med
; 10(2)2021 Jan 18.
Artigo
Inglês
| MEDLINE | ID: mdl-33477453
13.
Evaluation of the symptomatic treatment of residual neurological symptoms in Wilson disease.
Eur Neurol
; 64(2): 83-7, 2010.
Artigo
Inglês
| MEDLINE | ID: mdl-20606453
14.
Generation of two induced pluripotent stem cell lines from a female adult homozygous for the Wilson disease associated ATP7B variant p.H1069Q (AKOSi008-A) and a healthy control (AKOSi009-A).
Stem Cell Res
; 49: 102079, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33197697
15.
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Neurology
; 95(11): e1512-e1527, 2020 09 15.
Artigo
Inglês
| MEDLINE | ID: mdl-32796131
16.
Pregnancy and Wilson disease: management and outcome of mother and newborns-experiences of a perinatal centre.
Ann Transl Med
; 7(Suppl 2): S56, 2019 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-31179293
17.
The interesting case-orphan diseases-double trouble.
Ann Transl Med
; 7(Suppl 2): S74, 2019 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-31179311
18.
Left ventricular clefts - incidental finding or pathologic sign of Wilson's disease?
Orphanet J Rare Dis
; 14(1): 244, 2019 11 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31699127
19.
Cardiac and autonomic function in patients with Wilson's disease.
Orphanet J Rare Dis
; 14(1): 22, 2019 01 28.
Artigo
Inglês
| MEDLINE | ID: mdl-30691535
20.
Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies.
Neuromuscul Disord
; 18(6): 475-82, 2008 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-18504128