Detalhe da pesquisa
1.
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment.
Eur J Hum Genet
; 32(4): 426-434, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38316953
2.
Integrated Multi-Omics Analysis for Inferring Molecular Players in Inclusion Body Myositis.
Antioxidants (Basel)
; 12(8)2023 Aug 19.
Artigo
Inglês
| MEDLINE | ID: mdl-37627634
3.
Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.
Sci Rep
; 13(1): 22783, 2023 12 20.
Artigo
Inglês
| MEDLINE | ID: mdl-38129426
4.
Unravelling inclusion body myositis using a patient-derived fibroblast model.
J Cachexia Sarcopenia Muscle
; 14(2): 964-977, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36860172
5.
Mitochondrial Dysfunction: A Common Hallmark Underlying Comorbidity between sIBM and Other Degenerative and Age-Related Diseases.
J Clin Med
; 9(5)2020 May 13.
Artigo
Inglês
| MEDLINE | ID: mdl-32413985
6.
[Hypocalcaemia: an unusual and potentially reversible cause of dilated cardiomyopathy]. / Hipocalcemia: una causa poco frecuente y potencialmente reversible de miocardiopatía dilatada.
Med Clin (Barc)
; 136(3): 133-4, 2011 Feb 12.
Artigo
Espanhol
| MEDLINE | ID: mdl-20044112
7.
Hypocalcemia: una causa poco frecuente y potencialmente reversible de miocardipatía dilatada / Hypocalcaemia: an unusual and potentially reversible cause of dilated cardiomyopathy
Med. clín (Ed. impr.)
; 136(3): 133-134, feb. 2011.
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-85395