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1.
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
J Inherit Metab Dis
; 44(2): 415-425, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-32929747
2.
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.
PLoS Genet
; 10(11): e1004711, 2014 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25392908
3.
Inhibition of IFNα secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology.
Rheumatology (Oxford)
; 59(5): 1191, 2020 05 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31971592
4.
Inhibition of IFNα secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology.
Rheumatology (Oxford)
; 59(5): 1171-1174, 2020 05 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31665500
5.
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.
Neurol Genet
; 8(1): e648, 2022 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-35079622
6.
Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.
Cell Rep Med
; 2(8): 100370, 2021 08 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-34467247
7.
Derivation and Characterization of Immortalized Human Muscle Satellite Cell Clones from Muscular Dystrophy Patients and Healthy Individuals.
Cells
; 9(8)2020 07 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-32722643
8.
TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis.
Nat Commun
; 10(1): 2129, 2019 05 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-31086189
9.
Myogenic Progenitor Cells Exhibit Type I Interferon-Driven Proangiogenic Properties and Molecular Signature During Juvenile Dermatomyositis.
Arthritis Rheumatol
; 70(1): 134-145, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28941175
10.
Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells.
Oncotarget
; 7(24): 35753-35767, 2016 Jun 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-26840085
11.
Apoptosis-induced proteinase 3 membrane expression is independent from degranulation.
J Leukoc Biol
; 75(1): 87-98, 2004 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-14525959
12.
Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.
Skelet Muscle
; 5: 40, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26568816
13.
Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy.
J Mol Med (Berl)
; 89(2): 193-202, 2011 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-21107515
14.
The cleavage of neutrophil leukosialin (CD43) by cathepsin G releases its extracellular domain and triggers its intramembrane proteolysis by presenilin/gamma-secretase.
J Biol Chem
; 283(35): 23627-35, 2008 Aug 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-18586676
15.
Distinct signaling pathways are involved in leukosialin (CD43) down-regulation, membrane blebbing, and phospholipid scrambling during neutrophil apoptosis.
J Biol Chem
; 280(7): 5843-53, 2005 Feb 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-15576378
16.
Rapamycin inhibits human renal epithelial cell proliferation: effect on cyclin D3 mRNA expression and stability.
Kidney Int
; 67(6): 2422-33, 2005 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-15882288
17.
Beta4 integrin and laminin 5 are aberrantly expressed in polycystic kidney disease: role in increased cell adhesion and migration.
Am J Pathol
; 163(5): 1791-800, 2003 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-14578180
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