Detalhe da pesquisa
1.
Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers.
J Cell Mol Med
; 28(8): e18122, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38652110
2.
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
EMBO J
; 39(23): e105364, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33128823
3.
Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2.
Acta Neuropathol
; 147(1): 19, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38240888
4.
Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy.
Acta Neuropathol
; 147(1): 53, 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38470509
5.
Causes of death after first time venous thromboembolism.
Thromb J
; 22(1): 16, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38303070
6.
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Brain
; 146(10): 4200-4216, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37163662
7.
Management and outcomes of patients with chest pain and psychiatric disorders in the era of high-sensitivity cardiac troponins.
J Intern Med
; 293(4): 481-493, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36511632
8.
Molecular mechanisms in chloroquine-exposed muscle cells elucidated by combined proteomic and microscopic studies.
Neuropathol Appl Neurobiol
; 49(1): e12877, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36633103
9.
Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophy.
Acta Neuropathol
; 145(5): 611-635, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36930296
10.
Senescent fibro-adipogenic progenitors are potential drivers of pathology in inclusion body myositis.
Acta Neuropathol
; 146(5): 725-745, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37773216
11.
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.
J Pathol
; 256(1): 93-107, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34599609
12.
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.
Brain
; 145(11): 3999-4015, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148379
13.
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Brain
; 145(4): 1507-1518, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34791078
14.
Tuning the Internal Compartmentation of Single-Chain Nanoparticles as Fluorescent Contrast Agents.
Macromol Rapid Commun
; 44(2): e2200618, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35973086
15.
Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants.
Int J Mol Sci
; 24(7)2023 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37047781
16.
Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene.
Int J Mol Sci
; 24(19)2023 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37834164
17.
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease.
Hum Mutat
; 43(4): 477-486, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35112411
18.
Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1).
Mol Genet Metab
; 136(3): 226-237, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35660068
19.
Skeletal muscle provides the immunological micro-milieu for specific plasma cells in anti-synthetase syndrome-associated myositis.
Acta Neuropathol
; 144(2): 353-372, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35612662
20.
A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents.
Am J Med Genet A
; 188(1): 283-291, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34519148